ERN-RND

The European Reference Network on Rare Neurological Diseases (ERN-RND) aims to address the unmet needs of more than 500 000 people living with RNDs in Europe. Due to significant phenotype and genotype heterogeneity of RND patients, 60 % of those affected are still undiagnosed.

ERN-RND seeks to address these gaps through virtual multidisciplinary consultation, increasing the number of patients in registries by 20%, and aims for a 20% improvement in case outcomes — the percentage of patients with a final diagnosis. Multidisciplinary care pathways will be developed in collaboration with the European Pathway Association and ORPHANET.

The network builds on existing infrastructure by integrating a number of mature RND networks under the ERN-RND umbrella and supplementing functioning registries for conditions such as Huntington’s disease and ataxia.

An external quality assessment scheme for the standardisation of key diagnostic tests will be developed in cooperation with the European Molecular Genetics Quality Network, ensuring all patients have access to the same diagnostic opportunities. ERN-RND will support training, research and innovation interventions, and ensure patients’ voices are heard.

Contact information

Publications

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Below an overview is given of scientific publications related to ERN-RND. Publications were obtained from the PubMed database. All publications where one of the authors has an affiliation link where "ERN-RND" is mentioned, are added to the publication overview automatically. Updates are performed once a week.

Filter list publications

TitleAuthorsDateKeywordsIssue name
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 R2024-06-20ZBTB11, cataracts, deep brain stimulation, movement disordersMovement 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 B2024-06-16GNAO1 pathogenic variant, G‐protein, clinical phenotype, molecular etiology, movement disordersMovement 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 J2024-06-15Corpora amylacea, FUS, Frontotemporal lobar degeneration (FTLD), TDP-43, Tau, WasteosomesActa 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 L2024-06-08GNAL mutation, cognitive disability, generalized dystonia, pediatric dystoniaMovement 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 A2024-06-01Gaucher disease, Genetic, Glucocerebrosidase, Glycosphingolipids, Parkinson's diseaseParkinsonism & 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 LA2024-06-01POLG, Epilepsy, Mitochondrial disease, Refractory status epilepticusJournal 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 N2024-05-22Nature 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 JD2024-05-10Journal 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 MJ2024-05-03Advanced practice nurse, CROMS, Caregivers, Healthcare education program, Multiple system atrophy (MSA), PREMS, PROMS, Satisfaction, Therapeutic patient educationParkinsonism & 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 M2024-05-01arterial spin labeling, cerebral perfusion, frontotemporal dementia, presymptomatic biomarkerAlzheimer'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 C2024-04-29Nature communications
Atypical Mowat-Wilson Syndrome: Dystonia, Choreoathetosis and Cognitive Features.Nou-Fontanet L, Martí-Sánchez L, Martorell L, Casas J, Ortigoza-Escobar JD2024-04-22Movement disorders clinical practice
Parkinsonism outcomes in different settings: How the type of care matters.Solano B, Cámara A, Compta Y2024-04-12Parkinsonism & 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 R2024-04-06CA8, ataxia, cerebellar atrophy, vermis atrophyMovement 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 LL2024-04-01C9orf72, frontotemporal dementia, genetics, progranulin, tauAlzheimer'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 E2024-04-01SCN8A, intermittent esotropia, lingual dyskinesia, movement disorders, paroxysmal strabismus, self‐limiting familial infantile epilepsyEpileptic 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 R2024-04-01PD-CFRS, Parkinson’s disease, Parkinson’s disease dementia, Parkinson’s disease mild cognitive impairmentJournal 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 A2024-03-23Biomarkers, 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 Y2024-03-084R-tau, 4R-tauopathies, Alpha-synuclein, Antibodies, Corticobasal degeneration, Immunotherapy, Multiple system atrophy, Parkinson's disease, Progressive supranuclear palsy, SynucleinopathiesParkinsonism & 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 R2024-03-01European 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 R2024-03-01European 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 C2024-02-05Cognitive predictors, Emotion recognition, Mild cognitive impairment, Neuroimaging, Parkinson’s diseaseCognitive, affective & behavioral neuroscience
Constipation: "Making" or "Marking" motor and cognitive progression already in prodromal synucleinopathy?Simonet C, Compta Y2024-02-01Parkinsonism & 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 C2024-02-01Parkinson's disease, dementia, fractal dimension, mild cognitive impairment, neural networksMovement 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 T2024-02-01Europe, European Reference Networks, Mitochondrial diseases, Rare diseases, SurveyJournal 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 A2024-01-01GPi-DBS, HOPSANDs, choreoathetosis, freezing, myoclonus, pharyngeal spasmMovement 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 P2024-01-01Parkinson’s disease, caregivers, clinical guideline, palliative care, quality of lifePalliative 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 JD2024-01-01Movement 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 A2024-01-01G2019S, LRRK2, MSA, RT-QuICNeurological 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 JD2024-01-01GNAO1, deep brain stimulation, dyskinetic crisis, dystonia, movement disordersFrontiers 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 J2024-01-01PloS 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 K2023-12-11ANO3, Ca2+ signalling, K+ channels, TMEM16C, anoctamin 3, dystoniaBrain : 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 Y2023-12-01Chronic ataxia, Episodic ataxia, Loss-of-function, Patch-clamp, SCN8AEBioMedicine
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 JD2023-12-01NKX2-1, chorea, clinical guideline, drug therapy, systematic reviewEuropean journal of neurology
Integrating brainstem and cortical functional architectures.Hansen JY, Cauzzo S, Singh K, García-Gomar MG, Shine JM, Bianciardi M, Misic B2023-11-28Research 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 JD2023-11-01RHOBTB2, acute encephalopathy, epileptic encephalopathy, kinesigenic paroxysmal dyskinesia, movement disorders, oxcarbazepineMovement 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 Y2023-11-01Parkinsonism & related disorders
Current and novel infusion therapies for patients with Parkinson's disease.Antonini A, D'Onofrio V, Guerra A2023-11-01Apomorphine, Device-aided therapies, Infusion therapies, Levodopa/carbidopa intestinal gel, Parkinson’s disease, Subcutaneous levodopaJournal 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 F2023-11-01Artificial Intelligence, Biomarkers of aging, Frailty, Inflammaging, MultimorbidityAgeing 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 KA2023-11-01Annals of neurology
Integrating brainstem and cortical functional architectures.Hansen JY, Cauzzo S, Singh K, García-Gomar MG, Shine JM, Bianciardi M, Misic B2023-10-26bioRxiv : 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 Y2023-10-01Parkinsonism & 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 A2023-09-01Anxiety, Depression, Neuropsychiatric Symptoms, Neuropsychiatric symptoms, Parkinson's DiseaseExpert 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 A2023-09-01Neurological 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 A2023-09-01Neurological 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 LL2023-08-15C9orf72, Frontotemporal dementia, Genetic, Language, MAPT, ProgranulinJournal of the neurological sciences
Beyond the Dopaminergic System: Lessons Learned from levodopa Resistant Symptoms in Parkinson's Disease.Antonini A, Emmi A, Campagnolo M2023-08-01Parkinson, l‐dopa, motor complications, progressionMovement 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 D2023-07-01Respiratory dynamics, component, formatting, headings, inertial sensors, post-COVID-19 condition, respiratory rate (RR), style, styling, wireless communicationEnfoque 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 Y2023-07-01Multiple system atrophy, Neurofilament protein, Parkinsonian disorders, Progressive supranuclear palsy, Shape analysisEuropean radiology
Early Onset Nonprogressive Generalized Dystonia Is Caused by Biallelic SHQ1 Variants.Revert Barberà A, Fernández Isern G, Ortigoza-Escobar JD2023-06-01Movement 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 JD2023-06-01Myoclonus, case report., movement disorder, silver‐Russel syndromeMovement disorders clinical practice
Sacades, pupils and blink tracking: More than meets the eye in the Parkinson's disease cognitive spectrum?Painous C, Compta Y2023-05-01Parkinsonism & 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 J2023-05-01Huntington, SOM3355, bevantolol, chorea, vesicular monoamine transporter type 2British 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 MA2023-04-15NPJ 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 JD2023-04-01Angelman syndrome, COL17A1, PDZD7, UBE3A, autosomal recessive deafness type 57, case report, epidermolysis bullosaClinical 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 JD2023-04-01children, chromosome microarray analysis, deletion, movement disorder, reviewMovement 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 B2023-04-01Frontotemporal dementia, Frontotemporal lobar degeneration, Genes, Magnetic resonance imaging, Mutation, Neurotransmitters, Positron emission tomographyNeurobiology 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 LL2023-04-01C9orf72, Frontotemporal dementia, Genetics, Language, Progranulin, TauJournal 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 I2023-03-28Parkinson, ataxia, autism spectrum disorder, dystonia, epilepsy, neurodevelopmental disorders, neurological disorders, spastic paraplegia, whole exome sequencingGenes
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 MA2023-03-01Management, Movement disorders, Rare diseases, SurveyParkinsonism & 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 LL2023-03-01C9orf72, Frontotemporal dementia, Genetics, Motor, Progranulin, TauJournal 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 F2023-02-18deep 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 R2023-02-01Clinical phenotype, Cognitive dysfunction, Functional disability, MRI, Progressive supranuclear palsy PSPJournal 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 EZ2023-01-01Parkinson’s disease, bulk transcriptomics, major depressive disorder, prefrontal cortex, single-cell RNA, transcriptomicsFrontiers in aging neuroscience
Catching the Culprit: How Chorea May Signal an Inborn Error of Metabolism.Ortigoza-Escobar JD2023-01-01Chorea, athetosis, ballismus, inborn errors of metabolism, neuroimagingTremor 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 Y2023-01-01Lewy bodies dementia, Parkinson’s disease, alpha-synucleinopathies, circadian blood pressure patterns, cognitive decline, glymphatic system, multisystem atrophy, sleep disturbancesFrontiers 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 J2023-01-014-repeat tauopathy, Corticobasal syndrome, Data-driven, Parkinsonism, Progressive supranuclear palsy, [(18)F]PI-2620 tau-PETNeuroImage. 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 JA2023-01-01PloS 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 R2023-01-01de novo mutation, early‐onset Alzheimer's disease, presenilin‐1, spastic paraplegiaMovement disorders clinical practice
Neurodevelopmental Gene-Related Dystonia: A Pediatric Case with NAA15 Variant.Yubero D, Martorell L, Nunes T, Lyon GJ, Ortigoza-Escobar JD2022-11-01Movement 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 B2022-11-01Neurobiology 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 JD2022-11-014q35.2, FAT1, array CGH, autism spectrum disorder, case report, microduplicationClinical 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 J2022-10-27cognitive dysfunction, eye movements, multiple sclerosis, ocular markers, prediction methods, statistical analysis, video-oculographySensors (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 JD2022-10-01#, PRRT2, acetazolamide, autism, case report, episodic ataxia, homozygous, paroxysmal dyskinesiaMovement 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 G2022-10-01Annals 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 J2022-09-05Neurology
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 JD2022-08-31Biomarkers, Frontotemporal dementia, Synaptic dysfunctionAlzheimer'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 A2022-08-15Case report, Cerebral vasculitis, Cyclophosphamide, Cytokines, HSCT, Noonan syndrome, cbl syndromeJournal 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 E2022-08-01McLeod syndrome, chorea, creatine kinase, neuroacanthocytosisMovement 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 MDC2022-08-01Ataxin-3, Biomarker, Deubiquitinating enzyme, Electroretinogram, Machado-Joseph disease, Optical coherence tomography, Photoreceptor, Retinal pigment epithelium, Transmission electron microscopy, polyglutamineNeurobiology 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 B2022-07-01definition, frontotemporal dementia, frontotemporal lobar degeneration, mild cognitive and/or behavioral and/or motor impairment, mild cognitive impairment, preclinical, presymptomatic, prodromalAlzheimer'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 F2022-06-01CSF neurofilament Light chain, Degenerative parkinsonisms, MRI, biomarkers, α-synuclein RT-QuICParkinsonism & 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 B2022-06-01Frontotemporal dementia, Granulin, Graph theory, Mutation, Progranulin, Structural MRINeurobiology 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 JD2022-05-01Annals 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 A2022-05-01MRI, PET, antiphospholipid, choreaMovement 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 JD2022-05-01Empathic concern, Empathy, Frontotemporal dementia, Interpersonal Reactivity Index, Perspective takingCortex; 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 JD2022-05-01Clinical 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 L2022-03-21Parkinson’s disease, TFEB, WES, lysosomal, lysosomal diseases, mitochondrial, mitochondrial function, risk-factorJournal 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 M2022-03-15Nature 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 K2022-02-21NPJ 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 J2022-02-14eye movement, pathophysiology, post-COVID-19 condition, saccadic movement, wearable gaze-trackerSensors (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 JD2022-02-01GLUT1, SLC2A1, paroxysmal dyskinesiaMovement disorders clinical practice
Non-motor symptoms in spasmodic dysphonia: A case control-study.Vilaseca I, Hidalgo J, Cámara A, Compta Y, Martí MJ2022-02-01Focal dystonia, Laryngeal dystonia, Movement disorders, Non-motor symptoms, Spasmodic dysphoniaAuris, nasus, larynx
Smell deficits in COVID-19 and possible links with Parkinson's disease.Emmi A, Sandre M, Porzionato A, Antonini A2022-01-01Covid-19, Inflammation, Olfactory system, Parkinson's disease, Parkinsonism, SARS-CoV-2International 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 KR2022-01-01Covid-19, Long-COVID, Motor symptoms, Non-motor symptoms, Parkinson's disease, Parkinsonism, SARS-CoV-2International 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 KR2022-01-01Anxiety, Cognition, Covid-19, Depression, Fatigue, Gastrointestinal, Non-motor symptoms, Parkinson's disease, SARS-CoV-2, SleepInternational 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 F2022-01-01Clinical parkinsonism & related disorders
Gait analysis under the lens of statistical physics.Zanin M, Olivares F, Pulido-Valdeolivas I, Rausell E, Gomez-Andres D2022-01-01Entropy, Human gait, Irreversibility, Maximum Lyapunov exponent, Multi-fractal analysisComputational 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 AC2022-01-01Huntington's disease, chorea, daily clinical practice, diagnosis, differential diagnosis, guidelines, phenocopyFrontiers 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 AC2022-01-01Huntington's disease, chorea, daily clinical practice, diagnosis, differential diagnosis, guidelines, phenocopyFrontiers 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 B2021-12-01Frontotemporal Dementia, GRN mutation, dynamic functional network connectivity, resting-state functional MRI, spatial chronnectomeNeurobiology 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 K2021-11-01ceramide transport protein, intellectual disability, lipidome, phosphorylation, sphingomyelinThe 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 S2021-11-01Annals 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 S2021-10-01Heat-maps, Muscle MRI, Muscle ultrasound, Myopathies, Pattern recognition, a Machine learningNeuromuscular 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 H2021-10-01Care centers, Health facilities, Health personnel, Patient portals, Rare diseasesDer 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 G2021-07-01LMNA, early onset, laminopathies, muscular dystrophy, striated muscleBrain 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 KR2021-06-01Advanced Parkinson’s disease, LCIG, Long-term, ‘Off’-timeAdvances 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 J2021-06-01LRRC40, PLXNA2, autism spectrum disorder, diagnosis, neurodevelopmental disordersAutism 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 F2021-06-01fosmetpantotenate, pantothenate kinase-associated neurodegeneration, randomized controlled trial, treatmentMovement 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 MJ2021-05-01Admission, COVID-19, Fatality, Lockdown, MSA, Motor and non-motor symptoms, Semi-structured questionnaireParkinsonism & 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 GU2021-05-01clinical meaningfulness, progressive supranuclear palsy, rating scale, sensitivity to changeMovement disorders : official journal of the Movement Disorder Society
Rare disease care pathways in the EU: from odysseys and labyrinths towards highways.Tumiene B, Graessner H2021-04-01Journal 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 N2021-04-01Journal 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 G2021-03-22Orphanet 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 Y2021-03-01PSP, PSP-P, PSP-PGF, Phenotype, Prognosis, Richardson's syndrome, SurvivalParkinsonism & related disorders
Mini-Review: The MSA transcriptome.Pérez-Soriano A, Martí MJ2021-01-19Epigenetic, MSA, Transcriptomics, miRNAsNeuroscience letters
Editorial: Pediatric Neurometabolic Disorders.Tabarki B, Ortigoza-Escobar JD, Lee WT, AlFadhel M2021-01-01inherited neurometabolic disorders, leukodystrophy, mitochondrial disease, movement disorders, strokeFrontiers 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 JD2021-01-01Brain volumetry, Genetic frontotemporal dementia, MRI imaging, Presymptomatic stageNeuroImage. 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 R2020-10-26Scientific 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 X2020-10-01Chorea, Cortex, Insula, StrokeJournal 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 MJ2020-10-01differentially 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 GU2020-09-01Clinical diagnostic criteria, Phenotype, Progressive supranuclear palsy, Video tutorialParkinsonism & 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 G2020-08-12Rare diseases, Systematic literature reviews, Treatment knowledge-baseOrphanet 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 GU2020-08-01Coiled body, Neurofibrillary tangle, Progressive supranuclear palsy, Propagation, Richardson syndrome, Sequential involvement, Stage, Tau, Tauopathy, Tufted astrocyteActa 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 MJ2020-06-25Scientific 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 Y2020-05-01Motor, Non-motor, PSP, PrediagnosticParkinsonism & 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 A2020-04-15Diagnosis, Foetal neuropathology, Pathophysiology, Vanishing white matter disease, Whole exome sequencingActa neuropathologica communications
A Proposed Diagnostic Algorithm for Inborn Errors of Metabolism Presenting With Movements Disorders.Ortigoza-Escobar JD2020-01-01ataxia, athetosis, chorea, dystonia, hypokinetic rigid syndrome, inborn error of metabolism, myoclonusFrontiers in neurology
MCT8 Deficiency: The Road to Therapies for a Rare Disease.Grijota-Martínez C, Bárez-López S, Gómez-Andrés D, Guadaño-Ferraz A2020-01-01DITPA, MCT8, TRIAC, brain, neurodevelopment, sobetirome, thyroid hormonesFrontiers 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 A2019-10-01SPG7 gene, hereditary spastic paraplegia, mitochondria, parkinsonism, pathogenic genetic variantsMovement 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 MJ2019-08-01Biomarkers, Cerebrospinal fluid, Cytokines, Inflammation, Multiple system atrophy, Parkinson's diseaseParkinsonism & 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 GU2019-08-01autopsy, diversity, phenotype, progressive supranuclear palsyMovement 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 JA2019-04-01disability, dysferlin, heatmap, machine learning, muscle imaging, random forestMuscle & 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 E2018-08-01LMNA, MYH7, SEPN1, foot drop, heatmap, muscle imaging, rigid spineMuscle & nerve
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Last update: July 13th, 2024 on 01:30