| Conversion between NMSS and MDS-NMS in Parkinson's Disease. | Garon M, Rojo-Albuin JM, Chaudhuri KR, Rizos A, Rodriguez-Blazquez C, Mamikonyan E, Biundo R, Schrag A, Weintraub D, Antonini A, Odin P, Martinez-Martin P | 2025-03-20 | Parkinson's disease, conversion formulas, movement disorders, non‐motor symptoms, rating scales | Movement disorders : official journal of the Movement Disorder Society |
| Copy Number Variation and Haplotype Analysis of 17q21.31 Reveals Increased Risk Associated with Progressive Supranuclear Palsy and Gene Expression Changes in Neuronal Cells. | Wang H, Chang TS, Dombroski BA, Cheng PL, Si YQ, Tucci A, Patil V, Valiente-Banuet L, Li C, Farrell K, Mclean C, Molina-Porcel L, Rajput A, De Deyn PP, Le Bastard N, Gearing M, Donker Kaat L, Van Swieten JC, Dopper E, Ghetti BF, Newell KL, Troakes C, de Yébenes JG, Rábano-Gutierrez A, Meller T, Oertel WH, Respondek G, Stamelou M, Arzberger T, Roeber S, Müller U, Hopfner F, Pastor P, Brice A, Durr A, Le Ber I, Beach TG, Serrano GE, Hazrati LN, Litvan I, Rademakers R, Ross OA, Galasko D, Boxer AL, Miller BL, Seeley WW, Van Deerlin VM, Lee EB, White CL, Morris HR, de Silva R, Crary JF, Goate AM, Friedman JS, Compta Y, Leung YY, Coppola G, Naj AC, Wang LS, Dalgard C, Dickson DW, Höglinger GU, Tzeng JY, Geschwind DH, Schellenberg GD, Lee WP | 2025-03-08 | 17q21.31, H1 and H2 haplotypes, copy number variations, progressive supranuclear palsy, single‐cell gene expression | Movement disorders : official journal of the Movement Disorder Society |
| A proposal to involve people living with rare and complex conditions in the development of clinical practice guidelines. | Granja-Dominguez A, Martin-Gomez C, Ortigoza-Escobar JD, Rodriguez-Lopez R, Gonzalez-Bermudez L, Dantone S, Pavanello S, Blasco-Amaro JA | 2025-02-19 | Clinical practice guideline, Guideline development, Patient advisory group, Patient involvement, Patient-centric, Rare disease | Patient education and counseling |
| Commentary on "Atypical ADCY5-related movement disorders: Highlighting adolescent/adult-onset cervical dystonia". | Ortuño-Yepes B, Martorell L, Armstrong J, Ortigoza-Escobar JD | 2025-02-13 | | Parkinsonism & related disorders |
| Skin calcium deposits in primary familial brain calcification: A novel potential biomarker. | Emmi A, Bonato G, Tushevski A, Bertolin C, Cavallieri F, Porzionato A, Antonini A, Salviati L, Carecchio M | 2025-02-11 | | Annals of clinical and translational neurology |
| Historia natural de la distonía mioclónica asociada a variantes de SGCE en niños y adolescentes. | De Francesch V, Cazurro-Gutiérrez A, Timmers ER, Español-Martín G, Ferrero-Turrión J, Gómez-Andrés D, Marcé-Grau A, Dougherty-de Miguel L, González V, Moreno-Galdó A, Tijssen MAJ, Pérez-Dueñas B | 2025-01-31 | | Developmental medicine and child neurology |
| Dystonia caused by ANO3 variants is due to attenuated Ca2+ influx by ORAI1. | Ousingsawat J, Talbi K, Gómez-Martín H, Koy A, Fernández-Jaén A, Tekgül H, Serdaroğlu E, Ortigoza-Escobar JD, Schreiber R, Kunzelmann K | 2025-01-07 | ANO3, Anoctamin 3, Ca2+ signaling, Dystonia, K+ channels, TMEM16C | BMC medicine |
| Resting-State EEG Alpha Rhythms Are Related to CSF Tau Biomarkers in Prodromal Alzheimer's Disease. | Del Percio C, Lizio R, Lopez S, Noce G, Carpi M, Jakhar D, Soricelli A, Salvatore M, Yener G, Güntekin B, Massa F, Arnaldi D, Famà F, Pardini M, Ferri R, Carducci F, Lanuzza B, Stocchi F, Vacca L, Coletti C, Marizzoni M, Taylor JP, Hanoğlu L, Yılmaz NH, Kıyı İ, Özbek-İşbitiren Y, D'Anselmo A, Bonanni L, Biundo R, D'Antonio F, Bruno G, Antonini A, Giubilei F, Farotti L, Parnetti L, Frisoni GB, Babiloni C | 2025-01-03 | cerebrospinal fluid (CSF) biomarkers, exact low-resolution brain electromagnetic source tomography (eLORETA), mild cognitive impairment due to Alzheimer’s disease (ADMCI), resting-state electroencephalographic (EEG) rhythms | International journal of molecular sciences |
| Opicapone as adjunct to levodopa in treated Parkinson's disease without motor complications: A randomized clinical trial. | Ferreira JJ, Rascol O, Stocchi F, Antonini A, Moreira J, Castilla-Fernández G, Rocha JF, Holenz J, Poewe W | 2025-01-01 | COMT, Parkinson's disease, clinical trial, levodopa, opicapone | European journal of neurology |
| The FGF14 GAA repeat expansion is a major cause of ataxia in the Cypriot population. | Livanos I, Votsi C, Michailidou K, Pellerin D, Brais B, Zuchner S, Pantzaris M, Kleopa KA, Zamba Papanicolaou E, Christodoulou K | 2025-01-01 | Cyprus, FGF14, SCA27B, autosomal dominant cerebellar ataxia, spinocerebellar ataxia 27B | Brain communications |
| Deep Learning Unravels Differences Between Kinematic and Kinetic Gait Cycle Time Series from Two Control Samples of Healthy Children Assessed in Two Different Gait Laboratories. | de Gorostegui A, Kiernan D, Martín-Gonzalo JA, López-López J, Pulido-Valdeolivas I, Rausell E, Zanin M, Gómez-Andrés D | 2024-12-27 | children, deep learning, external validity, gait | Sensors (Basel, Switzerland) |
| Alpha-synuclein RT-QuIC assay in gastroduodenal and skin biopsies of Parkinson disease patients. | Emmi A, Mammana A, Sandre M, Baiardi S, Weis L, Rossi M, Magliocchetti F, Savarino E, Russo FP, Porzionato A, Carecchio M, Campagnolo M, Antonini A, Parchi P | 2024-12-21 | | Annals of clinical and translational neurology |
| Sensitivity and specificity of a seed amplification assay for diagnosis of multiple system atrophy: a multicentre cohort study. | Ma Y, Farris CM, Weber S, Schade S, Nguyen H, Pérez-Soriano A, Giraldo DM, Fernández M, Soto M, Cámara A, Painous C, Muñoz E, Valldeoriola F, Martí MJ, Clarimon J, Kallunki P, Ma TC, Alcalay RN, Gomes BF, Blennow K, Zetterberg H, Constantinescu J, Mengel D, Kadam V, Parchi P, Brockmann K, Tropea TF, Siderowf A, Synofzik M, Kang UJ, Compta Y, Svenningsson P, Mollenhauer B, Concha-Marambio L | 2024-12-01 | | The Lancet. Neurology |
| Parkinson disease therapy: current strategies and future research priorities. | Stocchi F, Bravi D, Emmi A, Antonini A | 2024-11-04 | | Nature reviews. Neurology |
| Response to Mortimer et al. "Clinical and molecular profiling in GNAO1 permits phenotype-genotype correlation". | Lasa-Aranzasti A, Solis GP, Katanaev VL, Pérez-Dueñas B | 2024-11-01 | | Movement disorders : official journal of the Movement Disorder Society |
| α-Synuclein Pathology in the Carotid Body: Experimental Evidence for a possible Contributor to Respiratory Impairment in Parkinson's Disease. | Emmi A, Macchi V, Stocco E, Tushevski A, Antonini A, De Caro R, Porzionato A | 2024-10-24 | Parkinson's disease, biomarker, carotid body, chemoreceptor, respiratory control, α‐synuclein | Movement disorders : official journal of the Movement Disorder Society |
| Integrating brainstem and cortical functional architectures. | Hansen JY, Cauzzo S, Singh K, García-Gomar MG, Shine JM, Bianciardi M, Misic B | 2024-10-16 | | Nature neuroscience |
| Developmental and epileptic encephalopathy 56 due to YWHAG variants: 12 new cases and review of the literature. | Amato ME, Balsells S, Martorell L, Alcalá San Martín A, Ansell K, Børresen ML, Johnson H, Korff C, Garcia-Tarodo S, Lefranc J, Denommé-Pichon AS, Sarrazin E, Szabo NZ, Saraiva JM, Wicher D, Goverde A, Bindels-de Heus KGCB, Barakat TS, Ortigoza-Escobar JD | 2024-10-09 | Ataxia, Epilepsy, Febrile seizures, Intellectual disability, YWHAG | European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society |
| Cerebrospinal Fluid Homovanillic and 5-Hydroxyindoleacetic Acids in a Large Pediatric Population; Establishment of Reference Intervals and Impact of Disease and Medication. | Rodriguez-Gonzalez H, Ormazabal A, Casado M, Arias AY, Oliva C, Barranco-Altirriba M, Casadevall R, García-Cuyas F, Nascimento A, Ortez C, Natera-de Benito D, Armangué T, O'Callaghan MM, Juliá-Palacios N, Darling A, Ortigoza-Escobar JD, Fons C, García-Cazorla A, Perera-Lluna A, Artuch R | 2024-09-27 | | Clinical chemistry |
| Enhanced quantitation of pathological α-synuclein in patient biospecimens by RT-QuIC seed amplification assays. | Srivastava A, Wang Q, Orrù CD, Fernandez M, Compta Y, Ghetti B, Zanusso G, Zou WQ, Caughey B, Beauchemin CAA | 2024-09-20 | | PLoS pathogens |
| Corrigendum to "Pilot therapeutic education program in multiple system atrophy: Safety, quality of life and satisfaction from a national registry based longitudinal study" [Park. Relat. Disord. (2024) 106993]. | Cámara A, Compta Y, Baixauli M, Maragall L, Pérez-Soriano A, Montagut N, Ahuir M, Ludeña E, Peri L, Fernández N, Villote S, Lopez de Los Reyes JC, Navarro-Otano J, Zaro I, Muñoz E, Buongiorno M, Caballol N, Pont-Sunyer C, Puente V, Giraldo D, Valldeoriola F, Lombraña M, Martí MJ | 2024-08-14 | | Parkinsonism & related disorders |
| Early-onset asymmetric parkinsonism with atypical features and rapid progression related to a PSEN1 H163R variant. | Luque-Buzo E, Pérez-Sánchez JR, Gonzalez-Sánchez M, Contreras-Chicote A, De la Casa-Fages B, Secades-García S, Grandas-Pérez F | 2024-08-10 | Atypical, Early-onset, Parkinsonism, Presenilin 1 | Parkinsonism & related disorders |
| Immune landscape of the enteric nervous system differentiates Parkinson's disease patients from controls: The PADUA-CESNE cohort. | Campagnolo M, Weis L, Sandre M, Tushevski A, Russo FP, Savarino E, Carecchio M, Stocco E, Macchi V, De Caro R, Parchi P, Bubacco L, Porzionato A, Antonini A, Emmi A | 2024-07-22 | Alpha-synuclein, Biomarkers, Gut, Immune system, Inflammation, Parkinson's disease's | Neurobiology of disease |
| Genetic mutations in Parkinson's disease: screening of a selected population from North-Eastern Italy. | Bonato G, Antonini A, Pistonesi F, Campagnolo M, Guerra A, Biundo R, Pilleri M, Bertolin C, Salviati L, Carecchio M | 2024-07-22 | GBA, Genetics, NGS, Parkinson | Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology |
| Pathogenic variants in KMT2C result in a neurodevelopmental disorder distinct from Kleefstra and Kabuki syndromes. | Rots D, Choufani S, Faundes V, Dingemans AJM, Joss S, Foulds N, Jones EA, Stewart S, Vasudevan P, Dabir T, Park SM, Jewell R, Brown N, Pais L, Jacquemont S, Jizi K, Ravenswaaij-Arts CMAV, Kroes HY, Stumpel CTRM, Ockeloen CW, Diets IJ, Nizon M, Vincent M, Cogné B, Besnard T, Kambouris M, Anderson E, Zackai EH, McDougall C, Donoghue S, O'Donnell-Luria A, Valivullah Z, O'Leary M, Srivastava S, Byers H, Leslie N, Mazzola S, Tiller GE, Vera M, Shen JJ, Boles R, Jain V, Brischoux-Boucher E, Kinning E, Simpson BN, Giltay JC, Harris J, Keren B, Guimier A, Marijon P, Vries BBA, Motter CS, Mendelsohn BA, Coffino S, Gerkes EH, Afenjar A, Visconti P, Bacchelli E, Maestrini E, Delahaye-Duriez A, Gooch C, Hendriks Y, Adams H, Thauvin-Robinet C, Josephi-Taylor S, Bertoli M, Parker MJ, Rutten JW, Caluseriu O, Vernon HJ, Kaziyev J, Zhu J, Kremen J, Frazier Z, Osika H, Breault D, Nair S, Lewis SME, Ceroni F, Viggiano M, Posar A, Brittain H, Giovanna T, Giulia G, Quteineh L, Ha-Vinh Leuchter R, Zonneveld-Huijssoon E, Mellado C, Marey I, Coudert A, Aracena Alvarez MI, Kennis MGP, Bouman A, Roifman M, Amorós Rodríguez MI, Ortigoza-Escobar JD, Vernimmen V, Sinnema M, Pfundt R, Brunner HG, Vissers LELM, Kleefstra T, Weksberg R, Banka S | 2024-07-09 | DNA methylation, EHMT1, KMT2C, KMT2D, Kabuki syndrome, Kleefstra syndrome, neurodevelopmental disorder | American journal of human genetics |
| Non-Motor Symptoms in Primary Familial Brain Calcification. | Bonato G, Cimino P, Pistonesi F, Salviati L, Bertolin C, Carecchio M | 2024-06-30 | COMPASS-31, PFBC, non-motor symptoms | Journal of clinical medicine |
| Biallelic ZBTB11 Variants: A Neurodevelopmental Condition with Progressive Complex Movement Disorders. | Ortigoza-Escobar JD, Zamani M, Dorison N, Sadeghian S, Azizimalamiri R, Alvi JR, Sultan T, Galehdari H, Shariati G, Saberi A, Leeuwen L, Zifarelli G, Bauer P, d'Hardemare V, Doummar D, Roze E, Travaglini L, Nicita F, Ojea Ponce N, Zahraei SM, Alabdi L, Tamim A, Hashem MO, Ababneh F, Morrow MM, Curry C, Tam A, Ruedy J, Bhambhani V, Veith R, Strømme P, Efthymiou S, Alkuraya FS, Moreno-De-Luca A, Burglen L, Houlden H, Maroofian R | 2024-06-20 | ZBTB11, cataracts, deep brain stimulation, movement disorders | Movement disorders : official journal of the Movement Disorder Society |
| Clinical and Molecular Profiling in GNAO1 Permits Phenotype-Genotype Correlation. | Lasa-Aranzasti A, Larasati YA, da Silva Cardoso J, Solis GP, Koval A, Cazurro-Gutiérrez A, Ortigoza-Escobar JD, Miranda MC, De la Casa-Fages B, Moreno-Galdó A, Tizzano EF, Gómez-Andrés D, Verdura E, Katanaev VL, Pérez-Dueñas B | 2024-06-16 | GNAO1 pathogenic variant, G‐protein, clinical phenotype, molecular etiology, movement disorders | Movement disorders : official journal of the Movement Disorder Society |
| Increase in wasteosomes (corpora amylacea) in frontotemporal lobar degeneration with specific detection of tau, TDP-43 and FUS pathology. | Alsina R, Riba M, Pérez-Millan A, Borrego-Écija S, Aldecoa I, Romera C, Balasa M, Antonell A, Lladó A, Compta Y, Del Valle J, Sánchez-Valle R, Pelegrí C, Molina-Porcel L, Vilaplana J | 2024-06-15 | Corpora amylacea, FUS, Frontotemporal lobar degeneration (FTLD), TDP-43, Tau, Wasteosomes | Acta neuropathologica communications |
| Pediatric Onset of Generalized Dystonia, Cognitive Impairment, and Dysmorphic Features in a Patient Carrying Compound Heterozygous GNAL Mutations. | Magistrelli L, Contaldi E, Piola B, Caushi F, Carecchio M, D'Alfonso S, Corrado L | 2024-06-08 | GNAL mutation, cognitive disability, generalized dystonia, pediatric dystonia | Movement disorders clinical practice |
| Increased glucosylsphingosine levels and Gaucher disease in GBA1-associated Parkinson's disease. | Marano M, Zizzo C, Malaguti MC, Bacchin R, Cavallieri F, De Micco R, Spagnolo F, Bentivoglio AR, Schirinzi T, Bovenzi R, Ramat S, Erro R, Sorrentino C, Sucapane P, Pilotto A, Lupini A, Magliozzi A, Di Vico I, Carecchio M, Bonato G, Cilia R, Colucci F, Tamma F, Caputo E, Mostile G, Arabia G, Modugno N, Zibetti M, Ceravolo MG, Tambasco N, Cossu G, Valzania F, Manganotti P, Di Lazzaro V, Zappia M, Fabbrini G, Tinazzi M, Tessitore A, Duro G, Di Fonzo A | 2024-06-01 | Gaucher disease, Genetic, Glucocerebrosidase, Glycosphingolipids, Parkinson's disease | Parkinsonism & related disorders |
| Status epilepticus in POLG disease: a large multinational study. | Hikmat O, Naess K, Engvall M, Klingenberg C, Rasmussen M, Brodtkorb E, Ostergaard E, de Coo I, Pias-Peleteiro L, Isohanni P, Uusimaa J, Majamaa K, Kärppä M, Ortigoza-Escobar JD, Tangeraas T, Berland S, Harrison E, Biggs H, Horvath R, Darin N, Rahman S, Bindoff LA | 2024-06-01 | POLG, Epilepsy, Mitochondrial disease, Refractory status epilepticus | Journal of neurology |
| A modular framework for multi-scale tissue imaging and neuronal segmentation. | Cauzzo S, Bruno E, Boulet D, Nazac P, Basile M, Callara AL, Tozzi F, Ahluwalia A, Magliaro C, Danglot L, Vanello N | 2024-05-22 | | Nature communications |
| Diverse faces of GNAO1: mild forms in epilepsy and autism. | Ludlam WG, Soliani L, Domínguez-Carral J, Cordelli DM, Marchiani V, Gorría-Redondo N, Aguilera-Albesa S, Martemyanov KA, Ortigoza-Escobar JD | 2024-05-10 | | Journal of neurology |
| Pilot therapeutic education program in multiple system atrophy: Safety, quality of life and satisfaction from a national registry based longitudinal study. | Cámara A, Compta Y, Baixauli M, Maragall L, Pérez-Soriano A, Montagut N, Ahuir M, Ludeña E, Peri L, Fernández N, Villote S, Lopez de Los Reyes JC, Navarro-Otano J, Zaro I, Muñoz E, Buongiorno M, Caballol N, Pont-Sunyer C, Puente V, Giraldo D, Valldeoriola F, Lombraña M, Martí MJ | 2024-05-03 | Advanced practice nurse, CROMS, Caregivers, Healthcare education program, Multiple system atrophy (MSA), PREMS, PROMS, Satisfaction, Therapeutic patient education | Parkinsonism & related disorders |
| [Not Available]. | Pasternak M, Mirza SS, Luciw N, Mutsaerts HJMM, Petr J, Thomas D, Cash D, Bocchetta M, Tartaglia MC, Mitchell SB, Black SE, Freedman M, Tang-Wai D, Rogaeva E, Russell LL, Bouzigues A, van Swieten JC, Jiskoot LC, Seelaar H, Laforce R, Tiraboschi P, Borroni B, Galimberti D, Rowe JB, Graff C, Finger E, Sorbi S, de Mendonça A, Butler C, Gerhard A, Sanchez-Valle R, Moreno F, Synofzik M, Vandenberghe R, Ducharme S, Levin J, Otto M, Santana I, Strafella AP, MacIntosh BJ, Rohrer JD, Masellis M | 2024-05-01 | arterial spin labeling, cerebral perfusion, frontotemporal dementia, presymptomatic biomarker | Alzheimer's & dementia : the journal of the Alzheimer's Association |
| Mitochondrial complex I deficiency stratifies idiopathic Parkinson's disease. | Flønes IH, Toker L, Sandnes DA, Castelli M, Mostafavi S, Lura N, Shadad O, Fernandez-Vizarra E, Painous C, Pérez-Soriano A, Compta Y, Molina-Porcel L, Alves G, Tysnes OB, Dölle C, Nido GS, Tzoulis C | 2024-04-29 | | Nature communications |
| Atypical Mowat-Wilson Syndrome: Dystonia, Choreoathetosis and Cognitive Features. | Nou-Fontanet L, Martí-Sánchez L, Martorell L, Casas J, Ortigoza-Escobar JD | 2024-04-22 | | Movement disorders clinical practice |
| Parkinsonism outcomes in different settings: How the type of care matters. | Solano B, Cámara A, Compta Y | 2024-04-12 | | Parkinsonism & related disorders |
| Clinical and Molecular Spectrum of Autosomal Recessive CA8-Related Cerebellar Ataxia. | Kaiyrzhanov R, Ortigoza-Escobar JD, Stringer BW, Ganieva M, Gowda VK, Srinivasan VM, Macaya A, Laner A, Onbool E, Al-Shammari R, Al-Owain M, Deconinck N, Vilain C, Dontaine P, Self E, Akram R, Hussain G, Baig SM, Iqbal J, Salpietro V, Neshatdoust M, Kasiri M, Yesil G, Uygur T, Pysden K, Berry IR, Alves CA, Giacomotto J, Houlden H, Maroofian R | 2024-04-06 | CA8, ataxia, cerebellar atrophy, vermis atrophy | Movement disorders : official journal of the Movement Disorder Society |
| Extending the phenotypic spectrum assessed by the CDR plus NACC FTLD in genetic frontotemporal dementia. | Samra K, Peakman G, MacDougall AM, Bouzigues A, Greaves CV, Convery RS, van Swieten JC, Jiskoot L, Seelaar H, Moreno F, Sanchez-Valle R, Laforce R, Graff C, Masellis M, Tartaglia MC, Rowe JB, Borroni B, Finger E, Synofzik M, Galimberti D, Vandenberghe R, de Mendonça A, Butler CR, Gerhard A, Ducharme S, Ber IL, Tiraboschi P, Santana I, Pasquier F, Levin J, Otto M, Sorbi S, Rohrer JD, Russell LL | 2024-04-01 | C9orf72, frontotemporal dementia, genetics, progranulin, tau | Alzheimer's & dementia (Amsterdam, Netherlands) |
| Emergence of lingual dystonia and strabismus in early-onset SCN8A self-limiting familial infantile epilepsy. | Ancora C, Ortigoza-Escobar JD, Valletti MA, Furia F, Nielsen JEK, Møller RS, Gardella E | 2024-04-01 | SCN8A, intermittent esotropia, lingual dyskinesia, movement disorders, paroxysmal strabismus, self‐limiting familial infantile epilepsy | Epileptic disorders : international epilepsy journal with videotape |
| Validation of the Italian version of the Parkinson's Disease- Cognitive Functional Rating Scale. | Garon M, Weis L, Siquier A, Fiorenzato E, Pistonesi F, Cianci V, Canesi M, Pesce F, Reali E, Pozzi B, Isaias IU, Siri C, Santangelo G, Cuoco S, Barone P, Kulisevsky J, Antonini A, Biundo R | 2024-04-01 | PD-CFRS, Parkinson’s disease, Parkinson’s disease dementia, Parkinson’s disease mild cognitive impairment | Journal of neural transmission (Vienna, Austria : 1996) |
| Exploring mitochondrial biomarkers for Friedreich's ataxia: a multifaceted approach. | Stovickova L, Hansikova H, Hanzalova J, Musova Z, Semjonov V, Stovicek P, Hadzic H, Novotna L, Simcik M, Strnad P, Serbina A, Karamazovova S, Schwabova Paulasova J, Vyhnalek M, Krsek P, Zumrova A | 2024-03-23 | Biomarkers, Complex I (NQR), Complex II (SQR), Complex IV (COX), Disease monitoring, Friedreich's ataxia, Mitochondrial dysfunction, Neurofilament light chain (NFL), Therapeutic monitoring, Ubiquinone (Coenzyme Q10) | Journal of neurology |
| Anti-alpha synuclein and anti-tau immunotherapies: Can a cocktail approach work? | Del Giudice KP, Cosgaya M, Zaro I, Ravasi V, Santacruz P, Painous C, Fernández M, Cámara A, Compta Y | 2024-03-08 | 4R-tau, 4R-tauopathies, Alpha-synuclein, Antibodies, Corticobasal degeneration, Immunotherapy, Multiple system atrophy, Parkinson's disease, Progressive supranuclear palsy, Synucleinopathies | Parkinsonism & related disorders |
| Correction: A new blood DNA methylation signature for Koolen-de Vries syndrome: Classification of missense KANSL1 variants and comparison to fibroblast cells. | Awamleh Z, Choufani S, Wu W, Rots D, Dingemans AJM, Nadif Kasri N, Boronat S, Ibañez-Mico S, Cuesta Herraiz L, Ferrer I, Martínez Carrascal A, Pérez-Jurado LA, Aznar Lain G, Ortigoza-Escobar JD, de Vries BBA, Koolen DA, Weksberg R | 2024-03-01 | | European journal of human genetics : EJHG |
| A new blood DNA methylation signature for Koolen-de Vries syndrome: Classification of missense KANSL1 variants and comparison to fibroblast cells. | Awamleh Z, Choufani S, Wu W, Rots D, Dingemans AJM, Nadif Kasri N, Boronat S, Ibañez-Mico S, Cuesta Herraiz L, Ferrer I, Martínez Carrascal A, Pérez-Jurado LA, Aznar Lain G, Ortigoza-Escobar JD, de Vries BBA, Koolen DA, Weksberg R | 2024-03-01 | | European journal of human genetics : EJHG |
| Facial emotion recognition in individuals with mild cognitive impairment: An exploratory study. | Burgio F, Menardi A, Benavides-Varela S, Danesin L, Giustiniani A, Van den Stock J, De Mitri R, Biundo R, Meneghello F, Antonini A, Vallesi A, de Gelder B, Semenza C | 2024-02-05 | Cognitive predictors, Emotion recognition, Mild cognitive impairment, Neuroimaging, Parkinson’s disease | Cognitive, affective & behavioral neuroscience |
| Constipation: "Making" or "Marking" motor and cognitive progression already in prodromal synucleinopathy? | Simonet C, Compta Y | 2024-02-01 | | Parkinsonism & related disorders |
| Brain Dynamics Complexity as a Signature of Cognitive Decline in Parkinson's Disease. | Fiorenzato E, Moaveninejad S, Weis L, Biundo R, Antonini A, Porcaro C | 2024-02-01 | Parkinson's disease, dementia, fractal dimension, mild cognitive impairment, neural networks | Movement disorders : official journal of the Movement Disorder Society |
| Current management of primary mitochondrial disorders in EU countries: the European Reference Networks survey. | Mancuso M, Lopriore P, Lamperti C, Klopstock T, Rahman S, Licchetta L, Kornblum C, Wortmann SB, Dollfus H, Papadopoulou MT, Arzimanoglou A, Scarpa M, Graessner H, Evangelista T | 2024-02-01 | Europe, European Reference Networks, Mitochondrial diseases, Rare diseases, Survey | Journal of neurology |
| Dominant VPS16 Pathogenic Variants: Not Only Isolated Dystonia. | Monfrini E, Avanzino L, Palermo G, Bonato G, Brescia G, Ceravolo R, Cantarella G, Mandich P, Prokisch H, Storm Van's Gravesande K, Straccia G, Elia A, Reale C, Panteghini C, Zorzi G, Eleopra R, Erro R, Carecchio M, Garavaglia B, Zech M, Romito L, Di Fonzo A | 2024-01-01 | GPi-DBS, HOPSANDs, choreoathetosis, freezing, myoclonus, pharyngeal spasm | Movement disorders clinical practice |
| A systematic practice review: Providing palliative care for people with Parkinson's disease and their caregivers. | Garon M, Weck C, Rosqvist K, Odin P, Schrag A, Krikmann Ü, Pedrosa DJ, Antonini A, Lorenzl S, Martins Pereira S, Paal P | 2024-01-01 | Parkinson’s disease, caregivers, clinical guideline, palliative care, quality of life | Palliative medicine |
| A Novel AIFM1-Related Disorder Phenotype Treated with Deep Brain Stimulation. | Pijuan J, Sevrioukova IF, García-Campos Ó, Hernaez M, Gort L, Gómez-Chiari M, Jou C, Candela-Cantó S, Rumiá J, Artuch R, Palau F, Hoenicka J, Ortigoza-Escobar JD | 2024-01-01 | | Movement disorders : official journal of the Movement Disorder Society |
| Rapidly progressive multiple system atrophy in a patient carrying LRRK2 G2019S mutation. | Carrer T, Bonato G, Sandre M, Emmi A, Campagnolo M, Musso G, Carecchio M, Parchi P, Antonini A | 2024-01-01 | G2019S, LRRK2, MSA, RT-QuIC | Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology |
| Dyskinetic crisis in GNAO1-related disorders: clinical perspectives and management strategies. | Domínguez Carral J, Reinhard C, Ebrahimi-Fakhari D, Dorison N, Galosi S, Garone G, Malenica M, Ravelli C, Serdaroglu E, van de Pol LA, Koy A, Leuzzi V, Roubertie A, Lin JP, Doummar D, Cif L, Ortigoza-Escobar JD | 2024-01-01 | GNAO1, deep brain stimulation, dyskinetic crisis, dystonia, movement disorders | Frontiers in neurology |
| Systematic review of thyroid function in NKX2-1-related disorders: Screening and diagnosis. | Carmona-Hidalgo B, Martín-Gómez C, Herrera-Ramos E, Rodríguez-López R, Fontanet LN, Moreno JC, Blasco-Amaro JA, Léger J, Dario-Ortigoza-Escobar J | 2024-01-01 | | PloS one |
| Systematic review of thyroid function in NKX2-1-related disorders: Treatment and follow-up. | Carmona-Hidalgo B, Herrera-Ramos E, Rodríguez-López R, Nou-Fontanet L, C Moreno J, Blasco-Amaro JA, Léger J, Ortigoza-Escobar JD | 2024-01-01 | | PloS one |
| Broadening the clinical spectrum: molecular mechanisms and new phenotypes of ANO3-dystonia. | Ousingsawat J, Talbi K, Gómez-Martín H, Koy A, Fernández-Jaén A, Tekgül H, Serdaroğlu E, Schreiber R, Ortigoza-Escobar JD, Kunzelmann K | 2023-12-11 | ANO3, Ca2+ signalling, K+ channels, TMEM16C, anoctamin 3, dystonia | Brain : a journal of neurology |
| Clinical and electrophysiological features of SCN8A variants causing episodic or chronic ataxia. | Lyu H, Boßelmann CM, Johannesen KM, Koko M, Ortigoza-Escobar JD, Aguilera-Albesa S, Garcia-Navas Núñez D, Linnankivi T, Gaily E, van Ruiten HJA, Richardson R, Betzler C, Horvath G, Brilstra E, Geerdink N, Orsucci D, Tessa A, Gardella E, Fleszar Z, Schöls L, Lerche H, Møller RS, Liu Y | 2023-12-01 | Chronic ataxia, Episodic ataxia, Loss-of-function, Patch-clamp, SCN8A | EBioMedicine |
| Systematic review of drug therapy for chorea in NXK2-1-related disorders: Efficacy and safety evidence from case studies and series. | Nou-Fontanet L, Martín-Gómez C, Isabel-Gómez R, Bachoud-Lévi AC, Zorzi G, Capuano A, Blasco-Amaro JA, Ortigoza-Escobar JD | 2023-12-01 | NKX2-1, chorea, clinical guideline, drug therapy, systematic review | European journal of neurology |
| Integrating brainstem and cortical functional architectures. | Hansen JY, Cauzzo S, Singh K, García-Gomar MG, Shine JM, Bianciardi M, Misic B | 2023-11-28 | | Research square |
| Exploring the Spectrum of RHOBTB2 Variants Associated with Developmental Encephalopathy 64: A Case Series and Literature Review. | de Pedro Baena S, Sariego Jamardo A, Castro P, López González FJ, Sánchez Carpintero R, Cerisola A, Troncoso M, Witting S, Barrios A, Fons C, López Pisón J, Ortigoza-Escobar JD | 2023-11-01 | RHOBTB2, acute encephalopathy, epileptic encephalopathy, kinesigenic paroxysmal dyskinesia, movement disorders, oxcarbazepine | Movement disorders clinical practice |
| Lipoproteins and α-synuclein in cerebrospinal fluid in Parkinson's disease: "Dangerous liaisons" on the road to neurodegeneration? | Parnetti L, Bellomo G, Compta Y | 2023-11-01 | | Parkinsonism & related disorders |
| Current and novel infusion therapies for patients with Parkinson's disease. | Antonini A, D'Onofrio V, Guerra A | 2023-11-01 | Apomorphine, Device-aided therapies, Infusion therapies, Levodopa/carbidopa intestinal gel, Parkinson’s disease, Subcutaneous levodopa | Journal of neural transmission (Vienna, Austria : 1996) |
| Biomarkers of aging in frailty and age-associated disorders: State of the art and future perspective. | Salvioli S, Basile MS, Bencivenga L, Carrino S, Conte M, Damanti S, De Lorenzo R, Fiorenzato E, Gialluisi A, Ingannato A, Antonini A, Baldini N, Capri M, Cenci S, Iacoviello L, Nacmias B, Olivieri F, Rengo G, Querini PR, Lattanzio F | 2023-11-01 | Artificial Intelligence, Biomarkers of aging, Frailty, Inflammaging, Multimorbidity | Ageing research reviews |
| Severity of GNAO1-Related Disorder Correlates with Changes in G-Protein Function. | Domínguez-Carral J, Ludlam WG, Junyent Segarra M, Fornaguera Marti M, Balsells S, Muchart J, Čokolić Petrović D, Espinoza I, Ortigoza-Escobar JD, Martemyanov KA | 2023-11-01 | | Annals of neurology |
| Integrating brainstem and cortical functional architectures. | Hansen JY, Cauzzo S, Singh K, García-Gomar MG, Shine JM, Bianciardi M, Misic B | 2023-10-26 | | bioRxiv : the preprint server for biology |
| Healthy diet versus added sugars and unsaturated fatty acids in Parkinson's disease: Food for thought. | Carrasco M, Camara A, Compta Y | 2023-10-01 | | Parkinsonism & related disorders |
| The pharmacological management of the behavioral aspects of Parkinson's disease: an update. | Campagnolo M, Emmi A, Biundo R, Fiorenzato E, Batzu L, Chaudhuri KR, Antonini A | 2023-09-01 | Anxiety, Depression, Neuropsychiatric Symptoms, Neuropsychiatric symptoms, Parkinson's Disease | Expert opinion on pharmacotherapy |
| Correction to: A case of childhood‑onset dystonia‑parkinsonism due to homozygous parkin mutations and effect of globus pallidus deep brain stimulation. | Garrì F, Ciprietti D, Lerjefors L, Landi A, Pilleri M, Biundo R, Salviati L, Carecchio M, Antonini A | 2023-09-01 | | Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology |
| A case of childhood-onset dystonia-parkinsonism due to homozygous parkin mutations and effect of globus pallidus deep brain stimulation. | Garrì F, Ciprietti D, Lerjefors L, Landi A, Pilleri M, Biundo R, Salviati L, Carecchio M, Antonini A | 2023-09-01 | | Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology |
| Prodromal language impairment in genetic frontotemporal dementia within the GENFI cohort. | Samra K, MacDougall AM, Bouzigues A, Bocchetta M, Cash DM, Greaves CV, Convery RS, van Swieten JC, Jiskoot L, Seelaar H, Moreno F, Sanchez-Valle R, Laforce R, Graff C, Masellis M, Tartaglia MC, Rowe JB, Borroni B, Finger E, Synofzik M, Galimberti D, Vandenberghe R, de Mendonça A, Butler CR, Gerhard A, Ducharme S, Le Ber I, Tiraboschi P, Santana I, Pasquier F, Levin J, Otto M, Sorbi S, Rohrer JD, Russell LL | 2023-08-15 | C9orf72, Frontotemporal dementia, Genetic, Language, MAPT, Progranulin | Journal of the neurological sciences |
| Beyond the Dopaminergic System: Lessons Learned from levodopa Resistant Symptoms in Parkinson's Disease. | Antonini A, Emmi A, Campagnolo M | 2023-08-01 | Parkinson, l‐dopa, motor complications, progression | Movement disorders clinical practice |
| Internet of medical things. Measurement of respiratory dynamics using wearable sensors in post-COVID-19 patients. | García Cena CE, Silva L, Diaz Palencia FH, Moríñigo MI, Santos CP, Pazmiño RS, Benito-León J, Gómez-Andrés D | 2023-07-01 | Respiratory dynamics, component, formatting, headings, inertial sensors, post-COVID-19 condition, respiratory rate (RR), style, styling, wireless communication | Enfoque UTE : revista cientifica |
| Midbrain and pons MRI shape analysis and its clinical and CSF correlates in degenerative parkinsonisms: a pilot study. | Painous C, Pascual-Diaz S, Muñoz-Moreno E, Sánchez V, Pariente JC, Prats-Galino A, Soto M, Fernández M, Pérez-Soriano A, Camara A, Muñoz E, Valldeoriola F, Caballol N, Pont-Sunyer C, Martin N, Basora M, Tio M, Rios J, Martí MJ, Bargalló N, Compta Y | 2023-07-01 | Multiple system atrophy, Neurofilament protein, Parkinsonian disorders, Progressive supranuclear palsy, Shape analysis | European radiology |
| Early Onset Nonprogressive Generalized Dystonia Is Caused by Biallelic SHQ1 Variants. | Revert Barberà A, Fernández Isern G, Ortigoza-Escobar JD | 2023-06-01 | | Movement disorders : official journal of the Movement Disorder Society |
| Action Induced Myoclonus in a 11-Year-Old Boy with Silver-Russell Syndrome. | Nou-Fontanet L, García-Navas D, Gómez-Martín H, Martorell L, Ortigoza-Escobar JD | 2023-06-01 | Myoclonus, case report., movement disorder, silver‐Russel syndrome | Movement disorders clinical practice |
| Sacades, pupils and blink tracking: More than meets the eye in the Parkinson's disease cognitive spectrum? | Painous C, Compta Y | 2023-05-01 | | Parkinsonism & related disorders |
| A proof-of-concept study with SOM3355 (bevantolol hydrochloride) for reducing chorea in Huntington's disease. | Gamez J, Calopa M, Muñoz E, Ferré A, Huertas O, McAllister K, Reig N, Scart-Grès C, Insa R, Kulisevsky J | 2023-05-01 | Huntington, SOM3355, bevantolol, chorea, vesicular monoamine transporter type 2 | British journal of clinical pharmacology |
| Brainstem neuromelanin and iron MRI reveals a precise signature for idiopathic and LRRK2 Parkinson's disease. | Martínez M, Ariz M, Alvarez I, Castellanos G, Aguilar M, Hernández-Vara J, Caballol N, Garrido A, Bayés À, Vilas D, Marti MJ, Pastor P, de Solórzano CO, Pastor MA | 2023-04-15 | | NPJ Parkinson's disease |
| Coexistence of junctional epidermolysis bullosa, autosomal recessive deafness type 57, and Angelman syndrome: A case report. | Amato ME, Ricart S, Vicente MA, Martorell L, Armstrong J, Fernández Isern G, Mascaro JM, Balsells S, Alonso I, Serrano M, Ortigoza-Escobar JD | 2023-04-01 | Angelman syndrome, COL17A1, PDZD7, UBE3A, autosomal recessive deafness type 57, case report, epidermolysis bullosa | Clinical case reports |
| Chromosome Microarray Analysis for the Investigation of Deletions in Pediatric Movement Disorders: A Systematic Review of the Literature. | Soliani L, Alcalá San Martín A, Balsells S, Hernando-Davalillo C, Ortigoza-Escobar JD | 2023-04-01 | children, chromosome microarray analysis, deletion, movement disorder, review | Movement disorders clinical practice |
| Early neurotransmitters changes in prodromal frontotemporal dementia: A GENFI study. | Premi E, Pengo M, Mattioli I, Cantoni V, Dukart J, Gasparotti R, Buratti E, Padovani A, Bocchetta M, Todd EG, Bouzigues A, Cash DM, Convery RS, Russell LL, Foster P, Thomas DL, van Swieten JC, Jiskoot LC, Seelaar H, Galimberti D, Sanchez-Valle R, Laforce R, Moreno F, Synofzik M, Graff C, Masellis M, Tartaglia MC, Rowe JB, Tsvetanov KA, Vandenberghe R, Finger E, Tiraboschi P, de Mendonça A, Santana I, Butler CR, Ducharme S, Gerhard A, Levin J, Otto M, Sorbi S, Le Ber I, Pasquier F, Rohrer JD, Borroni B | 2023-04-01 | Frontotemporal dementia, Frontotemporal lobar degeneration, Genes, Magnetic resonance imaging, Mutation, Neurotransmitters, Positron emission tomography | Neurobiology of disease |
| Language impairment in the genetic forms of behavioural variant frontotemporal dementia. | Samra K, MacDougall AM, Bouzigues A, Bocchetta M, Cash DM, Greaves CV, Convery RS, van Swieten JC, Seelaar H, Jiskoot L, Moreno F, Sanchez-Valle R, Laforce R, Graff C, Masellis M, Tartaglia MC, Rowe JB, Borroni B, Finger E, Synofzik M, Galimberti D, Vandenberghe R, de Mendonça A, Butler CR, Gerhard A, Ducharme S, Le Ber I, Tiraboschi P, Santana I, Pasquier F, Levin J, Otto M, Sorbi S, Rohrer JD, Russell LL | 2023-04-01 | C9orf72, Frontotemporal dementia, Genetics, Language, Progranulin, Tau | Journal of neurology |
| Implementation of Exome Sequencing in Clinical Practice for Neurological Disorders. | Alvarez-Mora MI, Rodríguez-Revenga L, Jodar M, Potrony M, Sanchez A, Badenas C, Oriola J, Villanueva-Cañas JL, Muñoz E, Valldeoriola F, Cámara A, Compta Y, Carreño M, Martí MJ, Sánchez-Valle R, Madrigal I | 2023-03-28 | Parkinson, ataxia, autism spectrum disorder, dystonia, epilepsy, neurodevelopmental disorders, neurological disorders, spastic paraplegia, whole exome sequencing | Genes |
| Management of rare movement diseases in different world regions. | Painous C, Martí MJ, Graessner H, Camargo AP, El-Jaafary SI, Martínez-Ramírez D, Ojo OO, Taiwo FT, Rajan R, Cornejo-Olivas M, Ayele BA, Tibar H, Kearney M, Gatto E, Tijssen MA | 2023-03-01 | Management, Movement disorders, Rare diseases, Survey | Parkinsonism & related disorders |
| Motor symptoms in genetic frontotemporal dementia: developing a new module for clinical rating scales. | Samra K, MacDougall AM, Peakman G, Bouzigues A, Bocchetta M, Cash DM, Greaves CV, Convery RS, van Swieten JC, Jiskoot L, Seelaar H, Moreno F, Sanchez-Valle R, Laforce R, Graff C, Masellis M, Tartaglia C, Rowe JB, Borroni B, Finger E, Synofzik M, Galimberti D, Vandenberghe R, de Mendonça A, Butler CR, Gerhard A, Ducharme S, Le Ber I, Tiraboschi P, Santana I, Pasquier F, Levin J, Otto M, Sorbi S, Rohrer JD, Russell LL | 2023-03-01 | C9orf72, Frontotemporal dementia, Genetics, Motor, Progranulin, Tau | Journal of neurology |
| Combining Transcranial Magnetic Stimulation and Deep Brain Stimulation: Current Knowledge, Relevance and Future Perspectives. | D'Onofrio V, Manzo N, Guerra A, Landi A, Baro V, Määttä S, Weis L, Porcaro C, Corbetta M, Antonini A, Ferreri F | 2023-02-18 | deep brain stimulation (DBS), neuromodulation, neuropsychiatric disorders, transcranial magnetic stimulation (TMS) | Brain sciences |
| Clinical, cognitive, and morphometric profiles of progressive supranuclear palsy phenotypes. | Campagnolo M, Weis L, Fogliano C, Cianci V, Garon M, Fiorenzato E, Carecchio M, Ferreri F, Bisiacchi P, Antonini A, Biundo R | 2023-02-01 | Clinical phenotype, Cognitive dysfunction, Functional disability, MRI, Progressive supranuclear palsy PSP | Journal of neural transmission (Vienna, Austria : 1996) |
| Unraveling the transcriptomic signatures of Parkinson's disease and major depression using single-cell and bulk data. | Christodoulou CC, Onisiforou A, Zanos P, Papanicolaou EZ | 2023-01-01 | Parkinson’s disease, bulk transcriptomics, major depressive disorder, prefrontal cortex, single-cell RNA, transcriptomics | Frontiers in aging neuroscience |
| Catching the Culprit: How Chorea May Signal an Inborn Error of Metabolism. | Ortigoza-Escobar JD | 2023-01-01 | Chorea, athetosis, ballismus, inborn errors of metabolism, neuroimaging | Tremor and other hyperkinetic movements (New York, N.Y.) |
| Altered sleep and neurovascular dysfunction in alpha-synucleinopathies: the perfect storm for glymphatic failure. | Buongiorno M, Marzal C, Fernandez M, Cullell N, de Mena L, Sánchez-Benavides G, de la Sierra A, Krupinski J, Compta Y | 2023-01-01 | Lewy bodies dementia, Parkinson’s disease, alpha-synucleinopathies, circadian blood pressure patterns, cognitive decline, glymphatic system, multisystem atrophy, sleep disturbances | Frontiers in aging neuroscience |
| Symptomatology in 4-repeat tauopathies is associated with data-driven topology of [18F]-PI-2620 tau-PET signal. | Schönecker S, Palleis C, Franzmeier N, Katzdobler S, Ferschmann C, Schuster S, Finze A, Scheifele M, Prix C, Fietzek U, Weidinger E, Nübling G, Vöglein J, Patt M, Barthel H, Sabri O, Danek A, Höglinger GU, Brendel M, Levin J | 2023-01-01 | 4-repeat tauopathy, Corticobasal syndrome, Data-driven, Parkinsonism, Progressive supranuclear palsy, [(18)F]PI-2620 tau-PET | NeuroImage. Clinical |
| Exploring the values, preferences, and information needs of patients with NKX2-1-related disorders: A qualitative study protocol. | Martín-Gómez C, Ortigoza-Escobar JD, Nou-Fontanet L, Molina-Linde JM, Bachoud-Lévi AC, Léger J, Blasco-Amaro JA | 2023-01-01 | | PloS one |
| Spastic Paraplegia and Cognitive Impairment Due to a De Novo Pathogenic Variant in Presenilin-1. | Muñoz E, Jodar M, Guerrero J, Compta Y, Perissinotti A, Álvarez-Mora MI, Falgàs N, Rodríguez-Revenga L, Sánchez-Valle R | 2023-01-01 | de novo mutation, early‐onset Alzheimer's disease, presenilin‐1, spastic paraplegia | Movement disorders clinical practice |
| Neurodevelopmental Gene-Related Dystonia: A Pediatric Case with NAA15 Variant. | Yubero D, Martorell L, Nunes T, Lyon GJ, Ortigoza-Escobar JD | 2022-11-01 | | Movement disorders : official journal of the Movement Disorder Society |
| Corrigendum to "Dissemination in time and space in presymptomatic granulin mutation carriers: A spatial chronnectome study" [Neurobiology of Aging Volume 108, December 2021, Pages 155-167]. | Premi E, Giunta M, Iraji A, Rachakonda S, Calhoun V, Gazzina S, Benussi A, Gasparotti R, Archetti S, Bocchetta M, Cash D, Todd E, Peakman G, Convery R, van Swieten JC, Jiskoot L, Sanchez-Valle R, Moreno F, Laforce R, Graff C, Synofzik M, Galimberti D, Rowe J, Masellis M, Tartaglia C, Finger E, Vandenberghe R, de Mendonça A, Tagliavini F, Butler CR, Santana I, Gerhard A, Ber IL, Pasquier F, Ducharme S, Levin J, Danek A, Sorbi S, Otto M, Rohrer JD, Borroni B | 2022-11-01 | | Neurobiology of aging |
| De novo 4q35.2 duplication containing FAT1 is associated with autism spectrum disorder. | Hernando-Davalillo C, Martín AAS, Borregan Prats M, Ortigoza-Escobar JD | 2022-11-01 | 4q35.2, FAT1, array CGH, autism spectrum disorder, case report, microduplication | Clinical genetics |
| Toward an Automatic Assessment of Cognitive Dysfunction in Relapsing-Remitting Multiple Sclerosis Patients Using Eye Movement Analysis. | García Cena CE, Gómez-Andrés D, Pulido-Valdeolivas I, Sánchez-Seco VG, Domingo-Santos A, Moreno-García S, Benito-León J | 2022-10-27 | cognitive dysfunction, eye movements, multiple sclerosis, ocular markers, prediction methods, statistical analysis, video-oculography | Sensors (Basel, Switzerland) |
| Acetazolamide Improves Episodic Ataxia in a Patient with Non-Verbal Autism and Paroxysmal Dyskinesia Due To PRRT2 Biallelic Variants. | Martorell L, Macaya A, Pérez-Dueñas B, Ortigoza-Escobar JD | 2022-10-01 | #, PRRT2, acetazolamide, autism, case report, episodic ataxia, homozygous, paroxysmal dyskinesia | Movement disorders clinical practice |
| Long-Duration Progressive Supranuclear Palsy: Clinical Course and Pathological Underpinnings. | Lukic MJ, Respondek G, Kurz C, Compta Y, Gelpi E, Ferguson LW, Rajput A, Troakes C, van Swieten JC, Giese A, Roeber S, Herms J, Arzberger T, Höglinger G | 2022-10-01 | | Annals of neurology |
| Frequency and Longitudinal Course of Motor Signs in Genetic Frontotemporal Dementia. | Schönecker S, Martinez-Murcia FJ, Rauchmann BS, Franzmeier N, Prix C, Wlasich E, Loosli SV, Bochmann K, Gorriz Saez JM, Laforce R, Ducharme S, Tartaglia MC, Finger E, de Mendonça A, Santana I, Sanchez-Valle R, Moreno F, Sorbi S, Tagliavini F, Borroni B, Otto M, Synofzik M, Galimberti D, Vandenberghe R, van Swieten J, Butler C, Gerhard A, Graff C, Danek A, Rohrer JD, Masellis M, Rowe J, Levin J | 2022-09-05 | | Neurology |
| Differential impairment of cerebrospinal fluid synaptic biomarkers in the genetic forms of frontotemporal dementia. | Sogorb-Esteve A, Nilsson J, Swift IJ, Heller C, Bocchetta M, Russell LL, Peakman G, Convery RS, van Swieten JC, Seelaar H, Borroni B, Galimberti D, Sanchez-Valle R, Laforce R, Moreno F, Synofzik M, Graff C, Masellis M, Tartaglia MC, Rowe JB, Vandenberghe R, Finger E, Tagliavini F, Santana I, Butler CR, Ducharme S, Gerhard A, Danek A, Levin J, Otto M, Sorbi S, Le Ber I, Pasquier F, Gobom J, Brinkmalm A, Blennow K, Zetterberg H, Rohrer JD | 2022-08-31 | Biomarkers, Frontotemporal dementia, Synaptic dysfunction | Alzheimer's research & therapy |
| Cytokine profile and brain biopsy in a case of childhood-onset central nervous system vasculitis in Noonan syndrome-like disorder due to a novel CBL variant. | Ortigoza-Escobar JD, Fernández de Sevilla M, Monfort L, Antón J, Iglesias E, Rebollo M, Del-Prado-Sánchez C, Arostegui JI, Mensa-Vilaró A, Alsina L, Rodriguez-Vigil Iturrate C, Niemeyer CM, Jou C, Catalá A | 2022-08-15 | Case report, Cerebral vasculitis, Cyclophosphamide, Cytokines, HSCT, Noonan syndrome, cbl syndrome | Journal of neuroimmunology |
| Very Long Time Persistent HyperCKemia as the First Manifestation of McLeod Syndrome: A Case Report. | Torres V, Painous C, Santacruz P, Sánchez A, Sanz C, Grau-Junyent JM, Muñoz E | 2022-08-01 | McLeod syndrome, chorea, creatine kinase, neuroacanthocytosis | Movement disorders clinical practice |
| Altered retinal structure and function in Spinocerebellar ataxia type 3. | Toulis V, Casaroli-Marano R, Camós-Carreras A, Figueras-Roca M, Sánchez-Dalmau B, Muñoz E, Ashraf NS, Ferreira AF, Khan N, Marfany G, Costa MDC | 2022-08-01 | Ataxin-3, Biomarker, Deubiquitinating enzyme, Electroretinogram, Machado-Joseph disease, Optical coherence tomography, Photoreceptor, Retinal pigment epithelium, Transmission electron microscopy, polyglutamine | Neurobiology of disease |
| Conceptual framework for the definition of preclinical and prodromal frontotemporal dementia. | Benussi A, Alberici A, Samra K, Russell LL, Greaves CV, Bocchetta M, Ducharme S, Finger E, Fumagalli G, Galimberti D, Jiskoot LC, Le Ber I, Masellis M, Nacmias B, Rowe JB, Sanchez-Valle R, Seelaar H, Synofzik M, Rohrer JD, Borroni B | 2022-07-01 | definition, frontotemporal dementia, frontotemporal lobar degeneration, mild cognitive and/or behavioral and/or motor impairment, mild cognitive impairment, preclinical, presymptomatic, prodromal | Alzheimer's & dementia : the journal of the Alzheimer's Association |
| Combined CSF α-SYN RT-QuIC, CSF NFL and midbrain-pons planimetry in degenerative parkinsonisms: From bedside to bench, and back again. | Compta Y, Painous C, Soto M, Pulido-Salgado M, Fernández M, Camara A, Sánchez V, Bargalló N, Caballol N, Pont-Sunyer C, Buongiorno M, Martin N, Basora M, Tio M, Giraldo DM, Pérez-Soriano A, Zaro I, Muñoz E, Martí MJ, Valldeoriola F | 2022-06-01 | CSF neurofilament Light chain, Degenerative parkinsonisms, MRI, biomarkers, α-synuclein RT-QuIC | Parkinsonism & related disorders |
| Structural brain splitting is a hallmark of Granulin-related frontotemporal dementia. | Gazzina S, Grassi M, Premi E, Alberici A, Benussi A, Archetti S, Gasparotti R, Bocchetta M, Cash DM, Todd EG, Peakman G, Convery RS, van Swieten JC, Jiskoot LC, Seelaar H, Sanchez-Valle R, Moreno F, Laforce R, Graff C, Synofzik M, Galimberti D, Rowe JB, Masellis M, Tartaglia MC, Finger E, Vandenberghe R, de Mendonça A, Tagliavini F, Butler CR, Santana I, Gerhard A, Ber IL, Pasquier F, Ducharme S, Levin J, Danek A, Sorbi S, Otto M, Rohrer JD, Borroni B | 2022-06-01 | Frontotemporal dementia, Granulin, Graph theory, Mutation, Progranulin, Structural MRI | Neurobiology of aging |
| The CBI-R detects early behavioural impairment in genetic frontotemporal dementia. | Nelson A, Russell LL, Peakman G, Convery RS, Bouzigues A, Greaves CV, Bocchetta M, Cash DM, van Swieten JC, Jiskoot L, Moreno F, Sanchez-Valle R, Laforce R, Graff C, Masellis M, Tartaglia MC, Rowe JB, Borroni B, Finger E, Synofzik M, Galimberti D, Vandenberghe R, de Mendonça A, Butler CR, Gerhard A, Ducharme S, Le Ber I, Santana I, Pasquier F, Levin J, Otto M, Sorbi S, Rohrer JD | 2022-05-01 | | Annals of clinical and translational neurology |
| Antiphospholipid-Related Chorea: Two Case Reports and Role of Metabolic Imaging. | Lerjefors L, Andretta S, Bonato G, Mainardi M, Carecchio M, Antonini A | 2022-05-01 | MRI, PET, antiphospholipid, chorea | Movement disorders clinical practice |
| Examining empathy deficits across familial forms of frontotemporal dementia within the GENFI cohort. | Foster PH, Russell LL, Peakman G, Convery RS, Bouzigues A, Greaves CV, Bocchetta M, Cash DM, van Swieten JC, Jiskoot LC, Moreno F, Sanchez-Valle R, Laforce R, Graff C, Masellis M, Tartaglia C, Rowe JB, Borroni B, Finger E, Synofzik M, Galimberti D, Vandenberghe R, de Mendonça A, Butler CR, Gerhard A, Ducharme S, Le Ber I, Tagliavini F, Santana I, Pasquier F, Levin J, Danek A, Otto M, Sorbi S, Rohrer JD | 2022-05-01 | Empathic concern, Empathy, Frontotemporal dementia, Interpersonal Reactivity Index, Perspective taking | Cortex; a journal devoted to the study of the nervous system and behavior |
| The diagnosis of the first-documented intragenic KANSL1 microduplication patient broadens the genetic spectrum of Koolen de Vries syndrome. | Martorell L, Yubero D, Capdevila EC, Fernández Isern G, Salinas D, Mari Vico R, Rebollo M, Muchart J, Armstrong J, Ortigoza-Escobar JD | 2022-05-01 | | Clinical genetics |
| Over-Mutated Mitochondrial, Lysosomal and TFEB-Regulated Genes in Parkinson's Disease. | Segur-Bailach E, Ugarteburu O, Tort F, Texido L, Painous C, Compta Y, Martí MJ, Ribes A, Gort L | 2022-03-21 | Parkinson’s disease, TFEB, WES, lysosomal, lysosomal diseases, mitochondrial, mitochondrial function, risk-factor | Journal of clinical medicine |
| Tau deposition patterns are associated with functional connectivity in primary tauopathies. | Franzmeier N, Brendel M, Beyer L, Slemann L, Kovacs GG, Arzberger T, Kurz C, Respondek G, Lukic MJ, Biel D, Rubinski A, Frontzkowski L, Hummel S, Müller A, Finze A, Palleis C, Joseph E, Weidinger E, Katzdobler S, Song M, Biechele G, Kern M, Scheifele M, Rauchmann BS, Perneczky R, Rullman M, Patt M, Schildan A, Barthel H, Sabri O, Rumpf JJ, Schroeter ML, Classen J, Villemagne V, Seibyl J, Stephens AW, Lee EB, Coughlin DG, Giese A, Grossman M, McMillan CT, Gelpi E, Molina-Porcel L, Compta Y, van Swieten JC, Laat LD, Troakes C, Al-Sarraj S, Robinson JL, Xie SX, Irwin DJ, Roeber S, Herms J, Simons M, Bartenstein P, Lee VM, Trojanowski JQ, Levin J, Höglinger G, Ewers M | 2022-03-15 | | Nature communications |
| Safinamide in the treatment pathway of Parkinson's Disease: a European Delphi Consensus. | Stocchi F, Antonini A, Berg D, Bergmans B, Jost W, Katzenschlager R, Kulisevsky J, Odin P, Valldeoriola F, Ray Chaudhuri K | 2022-02-21 | | NPJ Parkinson's disease |
| Eye Movement Alterations in Post-COVID-19 Condition: A Proof-of-Concept Study. | García Cena C, Costa MC, Saltarén Pazmiño R, Santos CP, Gómez-Andrés D, Benito-León J | 2022-02-14 | eye movement, pathophysiology, post-COVID-19 condition, saccadic movement, wearable gaze-tracker | Sensors (Basel, Switzerland) |
| Paroxysmal Non-Kinesigenic Dyskinesia: Utility of the Quantification of GLUT1 in Red Blood Cells. | Soliani L, Martorell L, Yubero D, Verges C, Petit V, Ortigoza-Escobar JD | 2022-02-01 | GLUT1, SLC2A1, paroxysmal dyskinesia | Movement disorders clinical practice |
| Non-motor symptoms in spasmodic dysphonia: A case control-study. | Vilaseca I, Hidalgo J, Cámara A, Compta Y, Martí MJ | 2022-02-01 | Focal dystonia, Laryngeal dystonia, Movement disorders, Non-motor symptoms, Spasmodic dysphonia | Auris, nasus, larynx |
| Smell deficits in COVID-19 and possible links with Parkinson's disease. | Emmi A, Sandre M, Porzionato A, Antonini A | 2022-01-01 | Covid-19, Inflammation, Olfactory system, Parkinson's disease, Parkinsonism, SARS-CoV-2 | International review of neurobiology |
| Covid-19 and Parkinson's disease: Acute clinical implications, long-COVID and post-COVID-19 parkinsonism. | Leta V, Boura I, van Wamelen DJ, Rodriguez-Violante M, Antonini A, Chaudhuri KR | 2022-01-01 | Covid-19, Long-COVID, Motor symptoms, Non-motor symptoms, Parkinson's disease, Parkinsonism, SARS-CoV-2 | International review of neurobiology |
| Spotlight on non-motor symptoms and Covid-19. | Rota S, Boura I, Wan YM, Lazcano-Ocampo C, Rodriguez-Violante M, Antonini A, Chaudhuri KR | 2022-01-01 | Anxiety, Cognition, Covid-19, Depression, Fatigue, Gastrointestinal, Non-motor symptoms, Parkinson's disease, SARS-CoV-2, Sleep | International review of neurobiology |
| Acalculous cholecystitis associated with levodopa-carbidopa intestinal infusion therapy: A case report. | Torres V, González-Ortega G, Suárez A, Garrido A, Cámara A, Compta Y, Valldeoriola F | 2022-01-01 | | Clinical parkinsonism & related disorders |
| Gait analysis under the lens of statistical physics. | Zanin M, Olivares F, Pulido-Valdeolivas I, Rausell E, Gomez-Andres D | 2022-01-01 | Entropy, Human gait, Irreversibility, Maximum Lyapunov exponent, Multi-fractal analysis | Computational and structural biotechnology journal |
| Corrigendum: Combining Literature Review With a Ground Truth Approach for Diagnosing Huntington's Disease Phenocopy. | Nguyen QTR, Ortigoza Escobar JD, Burgunder JM, Mariotti C, Saft C, Hjermind LE, Youssov K, Landwehrmeyer GB, Bachoud-Lévi AC | 2022-01-01 | Huntington's disease, chorea, daily clinical practice, diagnosis, differential diagnosis, guidelines, phenocopy | Frontiers in neurology |
| Combining Literature Review With a Ground Truth Approach for Diagnosing Huntington's Disease Phenocopy. | Nguyen QTR, Ortigoza Escobar JD, Burgunder JM, Mariotti C, Saft C, Hjermind LE, Youssov K, Landwehrmeyer GB, Bachoud-Lévi AC | 2022-01-01 | Huntington's disease, chorea, daily clinical practice, diagnosis, differential diagnosis, guidelines, phenocopy | Frontiers in neurology |
| Dissemination in time and space in presymptomatic granulin mutation carriers: a GENFI spatial chronnectome study. | Premi E, Giunta M, Iraji A, Rachakonda S, Calhoun VD, Gazzina S, Benussi A, Gasparotti R, Archetti S, Bocchetta M, Cash D, Todd E, Peakman G, Convery R, van Swieten JC, Jiskoot L, Sanchez-Valle R, Moreno F, Laforce R, Graff C, Synofzik M, Galimberti D, Rowe JB, Masellis M, Tartaglia C, Finger E, Vandenberghe R, de Mendonça A, Tagliavini F, Butler CR, Santana I, Gerhard A, Le Ber I, Pasquier F, Ducharme S, Levin J, Danek A, Sorbi S, Otto M, Rohrer JD, Borroni B | 2021-12-01 | Frontotemporal Dementia, GRN mutation, dynamic functional network connectivity, resting-state functional MRI, spatial chronnectome | Neurobiology of aging |
| Intellectual-disability-associated mutations in the ceramide transport protein gene CERT1 lead to aberrant function and subcellular distribution. | Tamura N, Sakai S, Martorell L, Colomé R, Mizuike A, Goto A, Ortigoza-Escobar JD, Hanada K | 2021-11-01 | ceramide transport protein, intellectual disability, lipidome, phosphorylation, sphingomyelin | The Journal of biological chemistry |
| Expanding the phenotypic spectrum of BCS1L-related mitochondrial disease. | Hikmat O, Isohanni P, Keshavan N, Ferla MP, Fassone E, Abbott MA, Bellusci M, Darin N, Dimmock D, Ghezzi D, Houlden H, Invernizzi F, Kamarus Jaman NB, Kurian MA, Morava E, Naess K, Ortigoza-Escobar JD, Parikh S, Pennisi A, Barcia G, Tylleskär KB, Brackman D, Wortmann SB, Taylor JC, Bindoff LA, Fellman V, Rahman S | 2021-11-01 | | Annals of clinical and translational neurology |
| Two decades of advances in muscle imaging in children: from pattern recognition of muscle diseases to quantification and machine learning approaches. | Gómez-Andrés D, Oulhissane A, Quijano-Roy S | 2021-10-01 | Heat-maps, Muscle MRI, Muscle ultrasound, Myopathies, Pattern recognition, a Machine learning | Neuromuscular disorders : NMD |
| [se-atlas.de-Medical care atlas for people with rare diseases]. | Neff M, Schaaf J, Tegtbauer N, Schäfer J, Till M, Wagner TOF, Graeßner H, Mundlos C, Storf H | 2021-10-01 | Care centers, Health facilities, Health personnel, Patient portals, Rare diseases | Der Internist |
| International retrospective natural history study of LMNA-related congenital muscular dystrophy. | Ben Yaou R, Yun P, Dabaj I, Norato G, Donkervoort S, Xiong H, Nascimento A, Maggi L, Sarkozy A, Monges S, Bertoli M, Komaki H, Mayer M, Mercuri E, Zanoteli E, Castiglioni C, Marini-Bettolo C, D'Amico A, Deconinck N, Desguerre I, Erazo-Torricelli R, Gurgel-Giannetti J, Ishiyama A, Kleinsteuber KS, Lagrue E, Laugel V, Mercier S, Messina S, Politano L, Ryan MM, Sabouraud P, Schara U, Siciliano G, Vercelli L, Voit T, Yoon G, Alvarez R, Muntoni F, Pierson TM, Gómez-Andrés D, Reghan Foley A, Quijano-Roy S, Bönnemann CG, Bonne G | 2021-07-01 | LMNA, early onset, laminopathies, muscular dystrophy, striated muscle | Brain communications |
| The Long-Term Impact of Levodopa/Carbidopa Intestinal Gel on 'Off'-time in Patients with Advanced Parkinson's Disease: A Systematic Review. | Antonini A, Odin P, Pahwa R, Aldred J, Alobaidi A, Jalundhwala YJ, Kukreja P, Bergmann L, Inguva S, Bao Y, Chaudhuri KR | 2021-06-01 | Advanced Parkinson’s disease, LCIG, Long-term, ‘Off’-time | Advances in therapy |
| PLXNA2 and LRRC40 as candidate genes in autism spectrum disorder. | Pijuan J, Ortigoza-Escobar JD, Ortiz J, Alcalá A, Calvo MJ, Cubells M, Hernando-Davalillo C, Palau F, Hoenicka J | 2021-06-01 | LRRC40, PLXNA2, autism spectrum disorder, diagnosis, neurodevelopmental disorders | Autism research : official journal of the International Society for Autism Research |
| Fosmetpantotenate Randomized Controlled Trial in Pantothenate Kinase-Associated Neurodegeneration. | Klopstock T, Videnovic A, Bischoff AT, Bonnet C, Cif L, Comella C, Correa-Vela M, Escolar ML, Fraser JL, Gonzalez V, Hermanowicz N, Jech R, Jinnah HA, Kmiec T, Lang A, Martí MJ, Mercimek-Andrews S, Monduy M, Nimmo GAM, Perez-Dueñas B, Pfeiffer HCV, Planellas L, Roze E, Thakur N, Tochen L, Vanegas-Arroyave N, Zorzi G, Burns C, Greblikas F | 2021-06-01 | fosmetpantotenate, pantothenate kinase-associated neurodegeneration, randomized controlled trial, treatment | Movement disorders : official journal of the Movement Disorder Society |
| Effects of COVID -19 pandemic and lockdown on people with multiple system atrophy participating in a therapeutic education program. | Cámara A, Compta Y, Pérez-Soriano A, Montagut N, Baixauli M, Maragall L, Ludeña E, Lopez de Los Reyes JC, Peri-Cusi L, Fernández N, Villote S, Ahuir M, Grau A, Caballol N, Buongiorno M, Pont-Sunyer C, Puente V, Giraldo DM, de Fabregues O, Garrido A, Navarro-Otano J, Painous C, Sánchez-Gómez A, Muñoz E, Zaro I, Obiang D, Valldeoriola F, Lombraña M, Martí MJ | 2021-05-01 | Admission, COVID-19, Fatality, Lockdown, MSA, Motor and non-motor symptoms, Semi-structured questionnaire | Parkinsonism & related disorders |
| A Modified Progressive Supranuclear Palsy Rating Scale. | Grötsch MT, Respondek G, Colosimo C, Compta Y, Corvol JC, Ferreira J, Huber MK, Klietz M, Krey LFM, Levin J, Jecmenica-Lukic M, Macías-García D, Meissner WG, Mir P, Morris H, Nilsson C, Rowe JB, Seppi K, Stamelou M, van Swieten JC, Wenning G, Del Ser T, Golbe LI, Höglinger GU | 2021-05-01 | clinical meaningfulness, progressive supranuclear palsy, rating scale, sensitivity to change | Movement disorders : official journal of the Movement Disorder Society |
| Rare disease care pathways in the EU: from odysseys and labyrinths towards highways. | Tumiene B, Graessner H | 2021-04-01 | | Journal of community genetics |
| European Reference Networks: challenges and opportunities. | Tumiene B, Graessner H, Mathijssen IM, Pereira AM, Schaefer F, Scarpa M, Blay JY, Dollfus H, Hoogerbrugge N | 2021-04-01 | | Journal of community genetics |
| Correction to: A guide to writing systematic reviews of rare disease treatments to generate FAIRcompliant datasets: building a Treatabolome. | Atalaia A, Thompson R, Corvo A, Carmody L, Piscia D, Matalonga L, Macaya A, Lochmuller A, Fontaine B, Zurek B, Hernandez-Ferrer C, Reinhard C, Gómez-Andrés D, Desaphy JF, Schon K, Lohmann K, Jennings MJ, Synofzik M, Riess O, Yaou RB, Evangelista T, Ratnaike T, Bros-Facer V, Gumus G, Horvath R, Chinnery P, Laurie S, Graessner H, Robinson P, Lochmuller H, Beltran S, Bonne G | 2021-03-22 | | Orphanet journal of rare diseases |
| Association of PSP phenotypes with survival: A brain-bank study. | Guasp M, Molina-Porcel L, Painous C, Caballol N, Camara A, Perez-Soriano A, Sánchez-Gómez A, Garrido A, Muñoz E, Marti MJ, Valldeoriola F, Grau O, Gelpí E, Respondek G, Höglinger GH, Compta Y | 2021-03-01 | PSP, PSP-P, PSP-PGF, Phenotype, Prognosis, Richardson's syndrome, Survival | Parkinsonism & related disorders |
| Mini-Review: The MSA transcriptome. | Pérez-Soriano A, Martí MJ | 2021-01-19 | Epigenetic, MSA, Transcriptomics, miRNAs | Neuroscience letters |
| Editorial: Pediatric Neurometabolic Disorders. | Tabarki B, Ortigoza-Escobar JD, Lee WT, AlFadhel M | 2021-01-01 | inherited neurometabolic disorders, leukodystrophy, mitochondrial disease, movement disorders, stroke | Frontiers in neurology |
| Differential early subcortical involvement in genetic FTD within the GENFI cohort. | Bocchetta M, Todd EG, Peakman G, Cash DM, Convery RS, Russell LL, Thomas DL, Eugenio Iglesias J, van Swieten JC, Jiskoot LC, Seelaar H, Borroni B, Galimberti D, Sanchez-Valle R, Laforce R, Moreno F, Synofzik M, Graff C, Masellis M, Carmela Tartaglia M, Rowe JB, Vandenberghe R, Finger E, Tagliavini F, de Mendonça A, Santana I, Butler CR, Ducharme S, Gerhard A, Danek A, Levin J, Otto M, Sorbi S, Le Ber I, Pasquier F, Rohrer JD | 2021-01-01 | Brain volumetry, Genetic frontotemporal dementia, MRI imaging, Presymptomatic stage | NeuroImage. Clinical |
| Cerebrospinal fluid neopterin as a biomarker of neuroinflammatory diseases. | Molero-Luis M, Casas-Alba D, Orellana G, Ormazabal A, Sierra C, Oliva C, Valls A, Velasco J, Launes C, Cuadras D, Pérez-Dueñas B, Jordan I, Cambra FJ, Ortigoza-Escobar JD, Muñoz-Almagro C, Garcia-Cazorla A, Armangué T, Artuch R | 2020-10-26 | | Scientific reports |
| Hemichorea as Presentation of Acute Cortical Ischemic Stroke. Case Series and Review of the Literature. | Carbayo Á, Sarto J, Santana D, Compta Y, Urra X | 2020-10-01 | Chorea, Cortex, Insula, Stroke | Journal of stroke and cerebrovascular diseases : the official journal of National Stroke Association |
| MicroRNA Deregulation in Blood Serum Identifies Multiple System Atrophy Altered Pathways. | Pérez-Soriano A, Bravo P, Soto M, Infante J, Fernández M, Valldeoriola F, Muñoz E, Compta Y, Tolosa E, Garrido A, Ezquerra M, Fernández-Santiago R, Martí MJ | 2020-10-01 | differentially expressed microRNA (DEmiR), microRNA (miR), multiple system atrophy (MSA) | Movement disorders : official journal of the Movement Disorder Society |
| Video-tutorial for the Movement Disorder Society criteria for progressive supranuclear palsy. | Iankova V, Respondek G, Saranza G, Painous C, Cámara A, Compta Y, Aiba I, Balint B, Giagkou N, Josephs KA, Otsuki M, Golbe LI, Bhatia KP, Stamelou M, Lang AE, Höglinger GU | 2020-09-01 | Clinical diagnostic criteria, Phenotype, Progressive supranuclear palsy, Video tutorial | Parkinsonism & related disorders |
| A guide to writing systematic reviews of rare disease treatments to generate FAIR-compliant datasets: building a Treatabolome. | Atalaia A, Thompson R, Corvo A, Carmody L, Piscia D, Matalonga L, Macaya A, Lochmuller A, Fontaine B, Zurek B, Hernandez-Ferrer C, Reinhard C, Gómez-Andrés D, Desaphy JF, Schon K, Lohmann K, Jennings MJ, Synofzik M, Riess O, Yaou RB, Evangelista T, Ratnaike T, Bros-Facer V, Gumus G, Horvath R, Chinnery P, Laurie S, Graessner H, Robinson P, Lochmuller H, Beltran S, Bonne G | 2020-08-12 | Rare diseases, Systematic literature reviews, Treatment knowledge-base | Orphanet journal of rare diseases |
| Distribution patterns of tau pathology in progressive supranuclear palsy. | Kovacs GG, Lukic MJ, Irwin DJ, Arzberger T, Respondek G, Lee EB, Coughlin D, Giese A, Grossman M, Kurz C, McMillan CT, Gelpi E, Compta Y, van Swieten JC, Laat LD, Troakes C, Al-Sarraj S, Robinson JL, Roeber S, Xie SX, Lee VM, Trojanowski JQ, Höglinger GU | 2020-08-01 | Coiled body, Neurofibrillary tangle, Progressive supranuclear palsy, Propagation, Richardson syndrome, Sequential involvement, Stage, Tau, Tauopathy, Tufted astrocyte | Acta neuropathologica |
| Transcriptomic differences in MSA clinical variants. | Pérez-Soriano A, Arnal Segura M, Botta-Orfila T, Giraldo D, Fernández M, Compta Y, Fernández-Santiago R, Ezquerra M, Tartaglia GG, Martí MJ | 2020-06-25 | | Scientific reports |
| Prediagnostic motor and non-motor symptoms in progressive supranuclear palsy: The step-back PSP study. | Painous C, Martí MJ, Simonet C, Garrido A, Valldeoriola F, Muñoz E, Cámara A, Compta Y | 2020-05-01 | Motor, Non-motor, PSP, Prediagnostic | Parkinsonism & related disorders |
| Foetal onset of EIF2B related disorder in two siblings: cerebellar hypoplasia with absent Bergmann glia and severe hypomyelination. | Trimouille A, Marguet F, Sauvestre F, Lasseaux E, Pelluard F, Martin-Négrier ML, Plaisant C, Rooryck C, Lacombe D, Arveiler B, Boespflug-Tanguy O, Naudion S, Laquerrière A | 2020-04-15 | Diagnosis, Foetal neuropathology, Pathophysiology, Vanishing white matter disease, Whole exome sequencing | Acta neuropathologica communications |
| A Proposed Diagnostic Algorithm for Inborn Errors of Metabolism Presenting With Movements Disorders. | Ortigoza-Escobar JD | 2020-01-01 | ataxia, athetosis, chorea, dystonia, hypokinetic rigid syndrome, inborn error of metabolism, myoclonus | Frontiers in neurology |
| MCT8 Deficiency: The Road to Therapies for a Rare Disease. | Grijota-Martínez C, Bárez-López S, Gómez-Andrés D, Guadaño-Ferraz A | 2020-01-01 | DITPA, MCT8, TRIAC, brain, neurodevelopment, sobetirome, thyroid hormones | Frontiers in neuroscience |
| Parkinsonism and spastic paraplegia type 7: Expanding the spectrum of mitochondrial Parkinsonism. | De la Casa-Fages B, Fernández-Eulate G, Gamez J, Barahona-Hernando R, Morís G, García-Barcina M, Infante J, Zulaica M, Fernández-Pelayo U, Muñoz-Oreja M, Urtasun M, Olaskoaga A, Zelaya V, Jericó I, Saez-Villaverde R, Catalina I, Sola E, Martínez-Sáez E, Pujol A, Ruiz M, Schlüter A, Spinazzola A, Muñoz-Blanco JL, Grandas F, Holt I, Álvarez V, López de Munaín A | 2019-10-01 | SPG7 gene, hereditary spastic paraplegia, mitochondria, parkinsonism, pathogenic genetic variants | Movement disorders : official journal of the Movement Disorder Society |
| Cerebrospinal fluid cytokines in multiple system atrophy: A cross-sectional Catalan MSA registry study. | Compta Y, Dias SP, Giraldo DM, Pérez-Soriano A, Muñoz E, Saura J, Fernández M, Bravo P, Cámara A, Pulido-Salgado M, Painous C, Ríos J, Martí MJ | 2019-08-01 | Biomarkers, Cerebrospinal fluid, Cytokines, Inflammation, Multiple system atrophy, Parkinson's disease | Parkinsonism & related disorders |
| How to apply the movement disorder society criteria for diagnosis of progressive supranuclear palsy. | Grimm MJ, Respondek G, Stamelou M, Arzberger T, Ferguson L, Gelpi E, Giese A, Grossman M, Irwin DJ, Pantelyat A, Rajput A, Roeber S, van Swieten JC, Troakes C, Antonini A, Bhatia KP, Colosimo C, van Eimeren T, Kassubek J, Levin J, Meissner WG, Nilsson C, Oertel WH, Piot I, Poewe W, Wenning GK, Boxer A, Golbe LI, Josephs KA, Litvan I, Morris HR, Whitwell JL, Compta Y, Corvol JC, Lang AE, Rowe JB, Höglinger GU | 2019-08-01 | autopsy, diversity, phenotype, progressive supranuclear palsy | Movement disorders : official journal of the Movement Disorder Society |
| Disease duration and disability in dysfeRlinopathy can be described by muscle imaging using heatmaps and random forests. | Gómez-Andrés D, Díaz J, Munell F, Sánchez-Montáñez Á, Pulido-Valdeolivas I, Suazo L, Garrido C, Quijano-Roy S, Bevilacqua JA | 2019-04-01 | disability, dysferlin, heatmap, machine learning, muscle imaging, random forest | Muscle & nerve |
| Clinical and imaging hallmarks of the MYH7-related myopathy with severe axial involvement. | Dabaj I, Carlier RY, Gómez-Andrés D, Neto OA, Bertini E, D'amico A, Fattori F, PéRéon Y, Castiglioni C, Rodillo E, Catteruccia M, Guimarães JB, Oliveira ASB, Reed UC, Mesrob L, Lechner D, Boland A, Deleuze JF, Malfatti E, Bonnemann C, Laporte J, Romero N, Felter A, Quijano-Roy S, Moreno CAM, Zanoteli E | 2018-08-01 | LMNA, MYH7, SEPN1, foot drop, heatmap, muscle imaging, rigid spine | Muscle & nerve |
| 1.3 Staging Parkinson's disease: early versus advanced criteria | | 2025-03-22 | | |
| Biotin-Thiamine-Responsive Basal Ganglia Disease | | 2025-03-22 | Biotin-Responsive Basal Ganglia Disease (BBGD), BTBGD, BTRBGD, Thiamine Metabolism Dysfunction Syndrome 2, Thiamine Transporter-2 Deficiency, BTBGD, Thiamine Transporter-2 Deficiency, Biotin-Responsive Basal Ganglia Disease (BBGD), Thiamine Metabolism Dysfunction Syndrome-2, Thiamine transporter 2, SLC19A3, Biotin-Thiamine-Responsive Basal Ganglia Disease | |
