| Safety, tolerability, and efficacy of subcutaneous efgartigimod in patients with chronic inflammatory demyelinating polyradiculoneuropathy (ADHERE): a multicentre, randomised-withdrawal, double-blind, placebo-controlled, phase 2 trial. | Allen JA, Lin J, Basta I, Dysgaard T, Eggers C, Guptill JT, Gwathmey KG, Hewamadduma C, Hofman E, Hussain YM, Kuwabara S, Le Masson G, Leypoldt F, Chang T, Lipowska M, Lowe M, Lauria G, Querol L, Simu MA, Suresh N, Tse A, Ulrichts P, Van Hoorick B, Yamasaki R, Lewis RA, van Doorn PA | 2024-10-01 | | The Lancet. Neurology |
| Deletion of exons 45 to 55 in the DMD gene: from the therapeutic perspective to the in vitro model. | Poyatos-García J, Soblechero-Martín P, Liquori A, López-Martínez A, Maestre P, González-Romero E, Vázquez-Manrique RP, Muelas N, García-García G, Ohana J, Arechavala-Gomeza V, Vílchez JJ | 2024-10-01 | Becker muscular dystrophy, CRISPR-Cas9, Cell model, Duchenne muscular dystrophy, Dystrophin, Gene therapy | Skeletal muscle |
| Comparison of the diagnostic accuracy of the 2010 European Federation of Neurological Societies/Peripheral Nerve Society and American Association of Electrodiagnostic Medicine diagnostic criteria for multifocal motor neuropathy. | Doneddu PE, Gallo C, Gentile L, Cocito D, Falzone Y, Di Stefano V, Inghilleri M, Cosentino G, Matà S, Mazzeo A, Filosto M, Peci E, Sorrenti B, Brighina F, Moret F, Vegezzi E, Sperti M, Risi B, Nobile-Orazio E | 2024-09-05 | MMN, diagnosis, diagnostic criteria, guidelines, multifocal motor neuropathy | European journal of neurology |
| Assessment of lumbar paraspinal muscle morphology using mDixon Quant magnetic resonance imaging (MRI): a cross-sectional study in healthy subjects. | Krkoska P, Kokosova V, Dostal M, Vlazna D, Kerkovsky M, Straka M, Gerstberger R, Matulova K, Ovesna P, Adamova B | 2024-08-01 | Magnetic resonance imaging (MRI), biomarkers, chemical shift imaging, lumbar spine, paraspinal muscles | Quantitative imaging in medicine and surgery |
| Defining the landscape of TIA1 and SQSTM1 digenic myopathy. | Panos-Basterra P, Theuriet J, Nadaj-Pakleza A, Magot A, Lannes B, Marcorelles P, Behin A, Masingue M, Caillon F, Malek Y, Fenouil T, Bas J, Menassa R, Michel-Calemard L, Streichenberger N, Simon JP, Bouhour F, Evangelista T, Métay C, Pegat A, Stojkovic T, Fernández-Eulate G | 2024-07-24 | Digenic inheritance, Distal myopathy, Myofibrillar myopathy, Rimmed vacuoles, TIA1/SQSTM1 myopathy | Neuromuscular disorders : NMD |
| Caffeine consumption outcomes on amyotrophic lateral sclerosis disease progression and cognition. | Huin V, Blum D, Delforge V, Cailliau E, Djeziri S, Dujardin K, Genet A, Viard R, Attarian S, Bruneteau G, Cassereau J, Genestet S, Kaminsky AL, Soriani MH, Lefilliatre M, Couratier P, Pittion-Vouyovitch S, Esselin F, De La Cruz E, Guy N, Kolev I, Corcia P, Cintas P, Desnuelle C, Buée L, Danel-Brunaud V, Devos D, Rolland AS | 2024-07-11 | Amyotrophic lateral sclerosis, Caffeine, Cognition, Nutrition, Single nucleotide polymorphism | Neurobiology of disease |
| Safety, efficacy and steroid-sparing effect of amifampridine in Lambert-Eaton myasthenic syndrome patients - real world data. | Szczudlik P, Sobieszczuk E, Walczak M, Kostera-Pruszczyk A | 2024-06-27 | LEMS, Lambert-Eaton myasthenic syndrome, amifampridine, efficacy, safety, treatment | Neurologia i neurochirurgia polska |
| Compound heterozygous variants in MYBPC1 lead to severe distal arthrogryposis type-1 manifestations. | Iyer A, Lauerova B, Mariano J, Haberlová J, Lassuthova P, Zidkova J, Wright NT, Kontrogianni-Konstantopoulos A | 2024-06-05 | Autosomal recessive inheritance, Distal arthrogryposis type-1, MYBPC1 | Gene |
| Pharmacometabolomics applied to low-dose interleukin-2 treatment in amyotrophic lateral sclerosis. | Alarcan H, Bruno C, Emond P, Raoul C, Vourc'h P, Corcia P, Camu W, Veyrune JL, Garlanda C, Locati M, Juntas-Morales R, Saker S, Suehs C, Masseguin C, Kirby J, Shaw P, Malaspina A, De Vos J, Al-Chalabi A, Leigh PN, Tree T, Bensimon G, Blasco H | 2024-05-21 | amyotrophic lateral sclerosis, interleukin‐2, kynurenine pathway, metabolomics, pharmacometabolomics | Annals of the New York Academy of Sciences |
| Effect of exercise-based cancer rehabilitation via telehealth: a systematic review and meta-analysis. | Batalik L, Chamradova K, Winnige P, Dosbaba F, Batalikova K, Vlazna D, Janikova A, Pepera G, Abu-Odah H, Su JJ | 2024-05-17 | Cancer rehabilitation, Exercise-based rehabilitation, Home-based exercise, Telehealth | BMC cancer |
| JEWELFISH: 24-month results from an open-label study in non-treatment-naïve patients with SMA receiving treatment with risdiplam. | Chiriboga CA, Bruno C, Duong T, Fischer D, Mercuri E, Kirschner J, Kostera-Pruszczyk A, Jaber B, Gorni K, Kletzl H, Carruthers I, Martin C, Scalco RS, Fontoura P, Muntoni F | 2024-05-11 | Motor function, Risdiplam, SMA, Safety, Spinal muscular atrophy | Journal of neurology |
| E-Health & Innovation to Overcome Barriers in Neuromuscular Diseases. Report from the 3rd eNMD Congress: Pisa, Italy, 29-30 October 2021. | Schirinzi E, Bochicchio MA, Lochmüller H, Vissing J, Jordie-Diaz-Manerae, Evangelista T, Plançon JP, Fanucci L, Marini M, Tonacci A, Mancuso M, Segovia-Kueny S, Toscano A, Angelini C, Schoser B, Sacconi S, Siciliano G | 2024-05-08 | e-Health, neuromuscular diseases, remote monitoring, telemedicine | Journal of neuromuscular diseases |
| Congenital myasthenic syndromes in adults: clinical features, diagnosis and long-term prognosis. | Theuriet J, Masingue M, Behin A, Ferreiro A, Bassez G, Jaubert P, Tarabay O, Fer F, Pegat A, Bouhour F, Svahn J, Petiot P, Jomir L, Chauplannaz G, Cornut-Chauvinc C, Manel V, Salort-Campana E, Attarian S, Fortanier E, Verschueren A, Kouton L, Camdessanché JP, Tard C, Magot A, Péréon Y, Noury JB, Minot-Myhie MC, Perie M, Taithe F, Farhat Y, Millet AL, Cintas P, Solé G, Spinazzi M, Esselin F, Renard D, Sacconi S, Ezaru A, Malfatti E, Mallaret M, Magy L, Diab E, Merle P, Michaud M, Fournier M, Pakleza AN, Chanson JB, Lefeuvre C, Laforet P, Richard P, Sternberg D, Villar-Quiles RN, Stojkovic T, Eymard B | 2024-05-02 | CMS, genetic, myasthenia, neuromuscular junction | Brain : a journal of neurology |
| Bridging the Gap: Translational Medicine and Novel Therapies in Neuromuscular Diseases. | Filosto M | 2024-04-30 | | Journal of integrative neuroscience |
| Could the motor unit number index be an early prognostic biomarker for amyotrophic lateral sclerosis? | Grapperon AM, Harlay V, Boucekine M, Devos D, Rolland AS, Desnuelle C, Delmont E, Verschueren A, Attarian S | 2024-04-26 | Amyotrophic lateral sclerosis, Biomarker, Lower motor neuron, Motor unit number index, Prognosis | Clinical neurophysiology : official journal of the International Federation of Clinical Neurophysiology |
| Correction to: Analysis of muscle magnetic resonance imaging of a large cohort of patient with VCP‑mediated disease reveals characteristic features useful for diagnosis. | Esteller D, Schiava M, Verdú-Díaz J, Villar-Quiles RN, Dibowski B, Venturelli N, Laforet P, Alonso-Pérez J, Olive M, Domínguez-González C, Paradas C, Vélez B, Kostera-Pruszczyk A, Kierdaszuk B, Rodolico C, Claeys K, Pál E, Malfatti E, Souvannanorath S, Alonso-Jiménez A, de Ridder W, De Smet E, Papadimas G, Papadopoulos C, Xirou S, Luo S, Muelas N, Vilchez JJ, Ramos-Fransi A, Monforte M, Tasca G, Udd B, Palmio J, Sri S, Krause S, Schoser B, Fernández-Torrón R, López de Munain A, Pegoraro E, Farrugia ME, Vorgerd M, Manousakis G, Chanson JB, Nadaj-Pakleza A, Cetin H, Badrising U, Warman-Chardon J, Bevilacqua J, Earle N, Campero M, Díaz J, Ikenaga C, Lloyd TE, Nishino I, Nishimori Y, Saito Y, Oya Y, Takahashi Y, Nishikawa A, Sasaki R, Marini-Bettolo C, Guglieri M, Straub V, Stojkovic T, Carlier RY, Díaz-Manera J | 2024-04-01 | | Journal of neurology |
| Real life experience of tafamidis for the treatment of Spanish patients with Val30Met transthyretin amyloidosis with polyneuropathy. | Sanso MAR, Rodriguez AR, Vicente LM, Sevilla T, Garro CB, Martín JF, Vicente AA, de la Prida MM, Dávila LG, Vázquez LG, Valle FM, Pons CC, Bau AF, Barroso EC, López IL, González-Moreno J | 2024-03-30 | ATTR, Amiloidosis por transtirretina, Polineuropatía, Polyneuropathy, Real-life, Tafamidis, Transthyretin amyloidosis, Vida real | Medicina clinica |
| Hereditary motor sensory neuropathy with proximal involvement (HMSN-P) associated with TFG p.Pro285Leu variant in an Italian family with a motor neuron disease-like clinical picture. | Cabras S, Di Pede F, Canosa A, Grassano M, Mongini TE, Gadaleta G, Calvo A, Chiò A, Moglia C, Gallone S | 2024-03-27 | | Muscle & nerve |
| SEPN1-related myopathy depends on the oxidoreductase ERO1A and is druggable with the chemical chaperone TUDCA. | Germani S, Van Ho AT, Cherubini A, Varone E, Chernorudskiy A, Renna GM, Fumagalli S, Gobbi M, Lucchetti J, Bolis M, Guarrera L, Craparotta I, Rastelli G, Piccoli G, de Napoli C, Nogara L, Poggio E, Brini M, Cattaneo A, Bachi A, Simmen T, Calì T, Quijano-Roy S, Boncompagni S, Blaauw B, Ferreiro A, Zito E | 2024-03-19 | ER stress, ERO1, SEPN1, TUDCA, core myopathy, multi mini-core disease | Cell reports. Medicine |
| Myasthenia gravis concurrent with Parkinson's disease in a Spanish cohort. Causation or correlation? | Gamez J, Carmona F, Lorenzo-Bosquet C, Cuberas-Borrós G, de Fabregues O, Gamez A | 2024-02-01 | Comorbidity, DaT Scan, Epidemiology, Head drop, Late-onset myasthenia gravis, Parkinson’s disease | Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology |
| Criterion validity of the spatial exploration test of upper limb mobility to evaluate the active horizontal workspace of children with spinal muscular atrophy. | Pruvost S, Gomez Garcia de la Banda M, Quijano Roy S, Izedaren F, Roche N, Pouplin S | 2024-02-01 | Spinal muscular atrophy, children, functional assessment, spatial exploration, upper limb | Disability and rehabilitation |
| Clinicopathological correlates in frontotemporal lobar degeneration: motor neuron disease spectrum. | Carbayo Á, Borrego-Écija S, Turon-Sans J, Cortés-Vicente E, Molina-Porcel L, Gascón-Bayarri J, Rubio MÁ, Povedano M, Gámez J, Sotoca J, Juntas-Morales R, Almendrote M, Marquié M, Sánchez-Valle R, Illán-Gala I, Dols-Icardo O, Rubio-Guerra S, Bernal S, Caballero-Ávila M, Vesperinas A, Gelpi E, Rojas-García R | 2024-01-16 | amyotrophic lateral sclerosis, frontotemporal dementia, motor neuron disease, neuropathology | Brain : a journal of neurology |
| Analysis of muscle magnetic resonance imaging of a large cohort of patient with VCP-mediated disease reveals characteristic features useful for diagnosis. | Esteller D, Schiava M, Verdú-Díaz J, Villar-Quiles RN, Dibowski B, Venturelli N, Laforet P, Alonso-Pérez J, Olive M, Domínguez-González C, Paradas C, Vélez B, Kostera-Pruszczyk A, Kierdaszuk B, Rodolico C, Claeys K, Pál E, Malfatti E, Souvannanorath S, Alonso-Jiménez A, de Ridder W, De Smet E, Papadimas G, Papadopoulos C, Xirou S, Luo S, Muelas N, Vilchez JJ, Ramos-Fransi A, Monforte M, Tasca G, Udd B, Palmio J, Sri S, Krause S, Schoser B, Fernández-Torrón R, López de Munain A, Pegoraro E, Farrugia ME, Vorgerd M, Manousakis G, Chanson JB, Nadaj-Pakleza A, Cetin H, Badrising U, Warman-Chardon J, Bevilacqua J, Earle N, Campero M, Díaz J, Ikenaga C, Lloyd TE, Nishino I, Nishimori Y, Saito Y, Oya Y, Takahashi Y, Nishikawa A, Sasaki R, Marini-Bettolo C, Guglieri M, Straub V, Stojkovic T, Carlier RY, Díaz-Manera J | 2023-12-01 | Multisystemic proteinopathy, Muscle MRI, VCP myopathy, Valosin | Journal of neurology |
| Myasthenia gravis treatment in the elderly presents with a significant iatrogenic risk: a multicentric retrospective study. | Chanson JB, Bouhour F, Aubé-Nathier AC, Mallaret M, Vial C, Hacquard A, Petiot P, Spinazzi M, Nadaj-Pakleza A, Echaniz-Laguna A | 2023-12-01 | Frail elderly, Iatrogenic diseases, Myasthenia gravis, Prognosis | Journal of neurology |
| Correction to: Risdiplam in Patients Previously Treated with Other Therapies for Spinal Muscular Atrophy: An Interim Analysis from the JEWELFISH Study. | Chiriboga CA, Bruno C, Duong T, Fischer D, Mercuri E, Kirschner J, Kostera-Pruszczyk A, Jaber B, Gorni K, Kletzl H, Carruthers I, Martin C, Warren F, Scalco RS, Wagner KR, Muntoni F | 2023-10-01 | | Neurology and therapy |
| Long-term nusinersen treatment across a wide spectrum of spinal muscular atrophy severity: a real-world experience. | Łusakowska A, Wójcik A, Frączek A, Aragon-Gawińska K, Potulska-Chromik A, Baranowski P, Nowak R, Rosiak G, Milczarek K, Konecki D, Gierlak-Wójcicka Z, Burlewicz M, Kostera-Pruszczyk A | 2023-08-04 | Computed tomography–guided lumbar puncture, Functional tests, Nusinersen, Patient global impression – improvement, SMN2 gene, Scoliosis, Spinal muscular atrophy | Orphanet journal of rare diseases |
| Disseminated toxoplasma infection after hematopoietic stem cell transplantation with myositis and encephalitis. | Asensi Cantó P, Mayordomo E, Dorado A, Villalba M, Mañez RB, González E, Salavert M, Facal A, Chorão P, Balaguer A, Sivera R, Montoro J, Vilchez JJ, Piñana JL, Sanz M, Sanz J, Muelas N, Guerreiro M | 2023-08-01 | encephalitis, myositis, stem cell transplant, toxoplasmosis | Transplant infectious disease : an official journal of the Transplantation Society |
| Translation, reliability, and validity of the Norwegian version of the ABILHAND-NMD and the ACTIVLIM for Myotonic Dystrophy type 1. | Fossmo HL, Ørstavik K, Frich JC, Robinson HS | 2023-07-12 | Muscle disease, PROM, neuromuscular disorder, patient reported outcome measures, psychometric properties | Disability and rehabilitation |
| 253rd ENMC international workshop: Striated muscle laminopathies - natural history and clinical trial readiness. 24-26 June 2022, Hoofddorp, the Netherlands. | Maggi L, Quijano-Roy S, Bönnemann C, Bonne G | 2023-06-01 | Emery-Dreifuss, Heart, LMNA, Lamins, Myopathy | Neuromuscular disorders : NMD |
| Limb-girdle myopathy and mild intellectual disability: The expanding spectrum of TANGO2-related disease. | Restrepo-Vera JL, Muñoz-Cabello P, Pérez-Rodon J, Rovira-Moreno E, Codina-Solà M, Llauradó A, Salvadó M, Sánchez-Tejerina D, Sotoca J, Martínez-Sáez E, García-Arumí E, Juntas-Morales R | 2023-06-01 | ER-to-Golgi traffic, Intellectual disability, Limb-girdle, Mitochondria, Myopathy, TANGO2 | Neuromuscular disorders : NMD |
| Distal hereditary motor neuropathy due to a novel YARS1 gene pathogenic variant. | Llauradó A, Gratacòs-Viñola M, Rovira-Moreno E, Codina-Solà M, Salvadó M, Sanchez-Tejerina D, Sotoca J, Raguer N, Garcia-Arumi E, Juntas-Morales R | 2023-06-01 | | Muscle & nerve |
| Phenotype and clinical outcomes of Glu89Lys hereditary transthyretin amyloidosis: a new endemic variant in Spain. | de Frutos F, Ochoa JP, Gómez-González C, Reyes-Leiva D, Aróstegui JI, Casasnovas C, Barriales-Villa R, Sevilla T, Gonzalez-Lopez E, Ramil E, Galan L, González-Costello J, García-Álvarez A, Rojas-Garcia R, Espinosa MA, Garcia-Pavia P | 2023-06-01 | Amyloidosis, Glu89Lys, founder effect, hereditary ATTR, transthyretin | Amyloid : the international journal of experimental and clinical investigation : the official journal of the International Society of Amyloidosis |
| Biofluid Biomarkers in the Prognosis of Amyotrophic Lateral Sclerosis: Recent Developments and Therapeutic Applications. | Sanchez-Tejerina D, Llaurado A, Sotoca J, Lopez-Diego V, Vidal Taboada JM, Salvado M, Juntas-Morales R | 2023-04-18 | amyotrophic lateral sclerosis (ALS), biomarker, genetics, neurofilament light (NfL) protein, neuroinflammation, pharmacodynamic biomarker, prognosis | Cells |
| Risdiplam in Patients Previously Treated with Other Therapies for Spinal Muscular Atrophy: An Interim Analysis from the JEWELFISH Study. | Chiriboga CA, Bruno C, Duong T, Fischer D, Mercuri E, Kirschner J, Kostera-Pruszczyk A, Jaber B, Gorni K, Kletzl H, Carruthers I, Martin C, Warren F, Scalco RS, Wagner KR, Muntoni F | 2023-04-01 | Evrysdi, Pharmacodynamics, Risdiplam, Safety, Spinal muscular atrophy | Neurology and therapy |
| Mass spectrometry-based identification of new anti-Ly and known antisynthetase autoantibodies. | Vulsteke JB, Derua R, Dubucquoi S, Coutant F, Sanges S, Goncalves D, Wuyts G, De Haes P, Blockmans D, Wuyts WA, Claeys KG, De Langhe E, Fabien N, Bossuyt X | 2023-04-01 | Autoantibodies, Autoimmune Diseases, Autoimmunity, Polymyositis | Annals of the rheumatic diseases |
| Follow-up regimens for carriers of hereditary transthyretin variants. | Losada-López IA, Kapetanovic-García S, Sevilla-Mantecón T, Muñoz-Beamud F | 2023-03-10 | | Medicina clinica |
| Longitudinal Assessment of Creatine Kinase, Creatine/Creatinineratio, and Myostatin as Monitoring Biomarkers in Becker Muscular Dystrophy. | van de Velde NM, Koeks Z, Signorelli M, Verwey N, Overzier M, Bakker JA, Sajeev G, Signorovitch J, Ricotti V, Verschuuren J, Brown K, Spitali P, Niks EH | 2023-02-28 | | Neurology |
| Randomized Double-Blind Placebo-Controlled Trial of the Corticosteroid-Sparing Effects of Immunoglobulin in Myasthenia Gravis. | Bril V, Szczudlik A, Vaitkus A, Rozsa C, Kostera-Pruszczyk A, Hon P, Bednarik J, Tyblova M, Köhler W, Toomsoo T, Nowak RJ, Mozaffar T, Freimer ML, Nicolle MW, Magnus T, Pulley MT, Rivner M, Dimachkie MM, Distad BJ, Pascuzzi RM, Babiar D, Lin J, Querolt Coll M, Griffin R, Mondou E | 2023-02-14 | | Neurology |
| Identification of new telomere- and telomerase-associated autoantigens in systemic sclerosis. | Vulsteke JB, Smith V, Bonroy C, Derua R, Blockmans D, De Haes P, Vanderschueren S, Lenaerts JL, Claeys KG, Wuyts WA, Verschueren P, Vanhandsaeme G, Piette Y, De Langhe E, Bossuyt X | 2023-02-01 | Autoantibodies, Mass spectrometry, Systemic sclerosis, Telomerase, Telomere | Journal of autoimmunity |
| Adherence and Effect of Home-Based Rehabilitation with Telemonitoring Support in Patients with Chronic Non-Specific Low Back Pain: A Pilot Study. | Krkoska P, Vlazna D, Sladeckova M, Minarikova J, Barusova T, Batalik L, Dosbaba F, Vohanka S, Adamova B | 2023-01-13 | adherence, disability, home-based rehabilitation, low back pain, muscle strength, muscular endurance, pain, paraspinal muscles, telemonitoring | International journal of environmental research and public health |
| Trunk muscle dysfunction in patients with myotonic dystrophy type 2 and its contribution to chronic low back pain. | Vlazna D, Krkoska P, Sladeckova M, Parmova O, Barusova T, Hrabcova K, Vohanka S, Matulova K, Adamova B | 2023-01-01 | function tests, low back pain, muscle strength, muscular endurance, myotonic dystrophy type 2 (MD2), neuromuscular diseases (NMD), paraspinal muscles, respiratory muscles | Frontiers in neurology |
| Determining minimal clinically important differences in the North Star Ambulatory Assessment (NSAA) for patients with Duchenne muscular dystrophy. | Ayyar Gupta V, Pitchforth JM, Domingos J, Ridout D, Iodice M, Rye C, Chesshyre M, Wolfe A, Selby V, Mayhew A, Mazzone ES, Ricotti V, Hogrel JY, Niks EH, de Groot I, Servais L, Straub V, Mercuri E, Manzur AY, Muntoni F | 2023-01-01 | | PloS one |
| Case report: radiation-induced lumbosacral plexopathy - a very late complication of radiotherapy for cervical cancer. | Krkoska P, Kazda T, Vlazna D, Adamova B | 2022-12-12 | Case report, Cervical cancer, Lumbosacral plexus, Radiation-induced lumbosacral plexopathy, Radiotherapy | BMC neurology |
| Diagnostic Efficacy of Genetic Studies in a Series of Hereditary Cerebellar Ataxias in Eastern Spain. | Baviera-Muñoz R, Carretero-Vilarroig L, Vázquez-Costa JF, Morata-Martínez C, Campins-Romeu M, Muelas N, Sastre-Bataller I, Martínez-Torres I, Pérez-García J, Sivera R, Sevilla T, Vilchez JJ, Jaijo T, Espinós C, Millán JM, Bataller L, Aller E | 2022-12-01 | | Neurology. Genetics |
| European Neuromuscular Centre consensus statement on anaesthesia in patients with neuromuscular disorders. | van den Bersselaar LR, Heytens L, Silva HCA, Reimann J, Tasca G, Díaz-Cambronero Ó, Løkken N, Hellblom A, Hopkins PM, Rueffert H, Bastian B, Vilchez JJ, Gillies R, Johannsen S, Veyckemans F, Muenster T, Klein A, Litman R, Jungbluth H, Riazi S, Voermans NC, Snoeck MMJ | 2022-12-01 | anaesthesia, malignant hyperthermia, myopathy, neuromuscular disorders, perioperative care | European journal of neurology |
| Long-term efficacy and safety of inotersen for hereditary transthyretin amyloidosis: NEURO-TTR open-label extension 3-year update. | Brannagan TH, Coelho T, Wang AK, Polydefkis MJ, Dyck PJ, Berk JL, Drachman B, Gorevic P, Whelan C, Conceição I, Plante-Bordeneuve V, Merlini G, Obici L, Plana JMC, Gamez J, Kristen AV, Mazzeo A, Gentile L, Narayana A, Olugemo K, Aquino P, Benson MD, Gertz M | 2022-12-01 | Clinical trial, Familial amyloid polyneuropathy, Hereditary transthyretin amyloidosis, Inotersen, Peripheral neuropathies, Polyneuropathy | Journal of neurology |
| Continuum of sensory profiles in diabetes mellitus patients with and without neuropathy and pain. | Raputova J, Rajdova A, Vollert J, Srotova I, Rebhorn C, Üçeyler N, Birklein F, Sommer C, Vlckova E, Bednarik J | 2022-11-01 | | European journal of pain (London, England) |
| Dystrophinopathy Phenotypes and Modifying Factors in DMD Exon 45-55 Deletion. | Poyatos-García J, Martí P, Liquori A, Muelas N, Pitarch I, Martinez-Dolz L, Rodríguez B, Gonzalez-Quereda L, Damiá M, Aller E, Selva-Gimenez M, Vilchez R, Diaz-Manera J, Alonso-Pérez J, Barcena JE, Jauregui A, Gámez J, Aladrén JA, Fernández A, Montolio M, Azorin I, Hervas D, Casasús A, Nieto M, Gallano P, Sevilla T, Vilchez JJ | 2022-11-01 | | Annals of neurology |
| An Atypical Presentation of Upper Motor Neuron Predominant Juvenile Amyotrophic Lateral Sclerosis Associated with TARDBP Gene: A Case Report and Review of the Literature. | Sánchez-Tejerina D, Restrepo-Vera JL, Rovira-Moreno E, Codina-Sola M, Llauradó A, Sotoca J, Salvado M, Raguer N, García-Arumí E, Juntas-Morales R | 2022-08-19 | TARDBP, TDP-43, juvenile amyotrophic lateral sclerosis, upper motor neuron predominant disorder | Genes |
| Quantitative magnetic resonance imaging measures as biomarkers of disease progression in boys with Duchenne muscular dystrophy: a phase 2 trial of domagrozumab. | Sherlock SP, Palmer J, Wagner KR, Abdel-Hamid HZ, Bertini E, Tian C, Mah JK, Kostera-Pruszczyk A, Muntoni F, Guglieri M, Brandsema JF, Mercuri E, Butterfield RJ, McDonald CM, Charnas L, Marraffino S | 2022-08-01 | Biomarkers, Domagrozumab, Duchenne muscular dystrophy, Imaging, MRI, Neuromuscular disease | Journal of neurology |
| Randomized phase 2 study of ACE-083, a muscle-promoting agent, in facioscapulohumeral muscular dystrophy. | Statland JM, Campbell C, Desai U, Karam C, Díaz-Manera J, Guptill JT, Korngut L, Genge A, Tawil RN, Elman L, Joyce NC, Wagner KR, Manousakis G, Amato AA, Butterfield RJ, Shieh PB, Wicklund M, Gamez J, Bodkin C, Pestronk A, Weihl CC, Vilchez-Padilla JJ, Johnson NE, Mathews KD, Miller B, Leneus A, Fowler M, van de Rijn M, Attie KM | 2022-07-01 | FSHD, controlled trial, facioscapulohumeral muscular dystrophy, randomized | Muscle & nerve |
| Clinical and genetic spectrum of a large cohort of patients with δ-sarcoglycan muscular dystrophy. | Alonso-Pérez J, González-Quereda L, Bruno C, Panicucci C, Alavi A, Nafissi S, Nilipour Y, Zanoteli E, Isihi LMA, Melegh B, Hadzsiev K, Muelas N, Vílchez JJ, Dourado ME, Kadem N, Kutluk G, Umair M, Younus M, Pegorano E, Bello L, Crawford TO, Suárez-Calvet X, Töpf A, Guglieri M, Marini-Bettolo C, Gallano P, Straub V, Díaz-Manera J | 2022-04-18 | LGMD-R6/2F, SGCD, delta-sarcoglycan, muscular dystrophies, registries | Brain : a journal of neurology |
| Myasthenia gravis-treatment and severity in nationwide cohort. | Sobieszczuk E, Napiórkowski Ł, Szczudlik P, Kostera-Pruszczyk A | 2022-04-01 | Myasthenia gravis, hospitalization, immunoglobulins, immunosuppression, mortality | Acta neurologica Scandinavica |
| The Splicing of the Mitochondrial Calcium Uniporter Genuine Activator MICU1 Is Driven by RBFOX2 Splicing Factor during Myogenic Differentiation. | Vecellio Reane D, Cerqua C, Sacconi S, Salviati L, Trevisson E, Raffaello A | 2022-02-24 | alternative splicing, mitochondrial calcium homeostasis, myogenic differentiation, skeletal muscle | International journal of molecular sciences |
| Optimized Flow Cytometry Strategy for Phenotyping Intramuscular Leukocytes: Application to the Evaluation of Myopathological Processes. | Saidj T, Baba Amer Y, Plonquet A, Henry A, Souvannanorath S, Relaix F, Beldi-Ferchiou A, Authier FJ | 2022-02-24 | Flow cytometry, Inflammatory myopathy, Lymphocytes, Muscular dystrophy, Myofiber necrosis, Myopathy | Journal of neuropathology and experimental neurology |
| Risk factors for depression and anxiety in painful and painless diabetic polyneuropathy: A multicentre observational cross-sectional study. | Kec D, Rajdova A, Raputova J, Adamova B, Srotova I, Nekvapilova EK, Michalcakova RN, Horakova M, Belobradkova J, Olsovsky J, Weber P, Hajas G, Kaiserova M, Mazanec R, Potockova V, Ehler E, Forgac M, Birklein F, Üçeyler N, Sommer C, Bednarik J, Vlckova E | 2022-02-01 | | European journal of pain (London, England) |
| Functional Ability and Physical Activity in Hereditary Neuromuscular Diseases. | Andries A, Van Walsem MR, Ørstavik K, Frich JC | 2022-01-01 | Neuromuscular diseases, charcot-marie-tooth disease, exercise, muscular dystrophies, physical functional performance | Journal of neuromuscular diseases |
| Predictive factors for a severe course of COVID-19 infection in myasthenia gravis patients with an overall impact on myasthenic outcome status and survival. | Jakubikova M, Tyblova M, Tesar A, Magda H, Daniela V, Irena R, Iveta N, Kristyna D, Pavel D, Jiri P, Stanislav V, Josef B | 2022-01-01 | | European journal of neurology |
| Preclinical characterization of antagomiR-218 as a potential treatment for myotonic dystrophy. | Cerro-Herreros E, González-Martínez I, Moreno N, Espinosa-Espinosa J, Fernández-Costa JM, Colom-Rodrigo A, Overby SJ, Seoane-Miraz D, Poyatos-García J, Vilchez JJ, López de Munain A, Varela MA, Wood MJ, Pérez-Alonso M, Llamusí B, Artero R | 2021-12-03 | CTG repeat expansions, MBNL1 protein, alternative splicing, antisense oligonucleotide, microRNAs, myotonic dystrophy, therapeutic gene modulation, tissue distribution, transcriptomics | Molecular therapy. Nucleic acids |
| Safety and efficacy of avalglucosidase alfa versus alglucosidase alfa in patients with late-onset Pompe disease (COMET): a phase 3, randomised, multicentre trial. | Diaz-Manera J, Kishnani PS, Kushlaf H, Ladha S, Mozaffar T, Straub V, Toscano A, van der Ploeg AT, Berger KI, Clemens PR, Chien YH, Day JW, Illarioshkin S, Roberts M, Attarian S, Borges JL, Bouhour F, Choi YC, Erdem-Ozdamar S, Goker-Alpan O, Kostera-Pruszczyk A, Haack KA, Hug C, Huynh-Ba O, Johnson J, Thibault N, Zhou T, Dimachkie MM, Schoser B | 2021-12-01 | | The Lancet. Neurology |
| A multicenter cross-sectional French study of the impact of COVID-19 on neuromuscular diseases. | Pisella LI, Fernandes S, Solé G, Stojkovic T, Tard C, Chanson JB, Bouhour F, Salort-Campana E, Beaudonnet G, Debergé L, Duval F, Grapperon AM, Masingue M, Nadaj-Pakleza A, Péréon Y, Audic F, Behin A, Friedman D, Magot A, Noury JB, Souvannanorath S, Wahbi K, Antoine JC, Bigaut K, Camdessanché JP, Cintas P, Debs R, Espil-Taris C, Kremer L, Kuntzer T, Laforêt P, Laugel V, Mallaret M, Michaud M, Nollet S, Svahn J, Vicart S, Villar-Quiles RN, Desguerre I, Adams D, Segovia-Kueny S, Merret G, Hammouda E, Molon A, Attarian S | 2021-10-26 | COVID-19, Neuromuscular diseases, Prognosis, Risk factor | Orphanet journal of rare diseases |
| Assessing the upper motor neuron in amyotrophic lateral sclerosis using the triple stimulation technique: A multicenter prospective study. | Grapperon AM, Verschueren A, Jouve E, Morizot-Koutlidis R, Lenglet T, Pradat PF, Salachas F, Bernard E, Delstanche S, Maertens de Noordhout A, Guy N, Danel V, Delval A, Delmont E, Rolland AS, Pulse Study Group, Jomir L, Devos D, Wang F, Attarian S | 2021-10-01 | Amyotrophic lateral sclerosis, Transcranial magnetic stimulation, Triple stimulation technique, Upper motor neuron | Clinical neurophysiology : official journal of the International Federation of Clinical Neurophysiology |
| Predictive factors for a severe course of COVID-19 infection in myasthenia gravis patients with an overall impact on myasthenic outcome status and survival. | Jakubíková M, Týblová M, Tesař A, Horáková M, Vlažná D, Ryšánková I, Nováková I, Dolečková K, Dušek P, Piťha J, Voháňka S, Bednařík J | 2021-10-01 | COVID-19, corticosteroids, immunosuppression, myasthenia gravis, rituximab | European journal of neurology |
| A recurrent RYR1 mutation associated with early-onset hypotonia and benign disease course. | Biancalana V, Rendu J, Chaussenot A, Mecili H, Bieth E, Fradin M, Mercier S, Michaud M, Nougues MC, Pasquier L, Sacconi S, Romero NB, Marcorelles P, Authier FJ, Gelot Bernabe A, Uro-Coste E, Cances C, Isidor B, Magot A, Minot-Myhie MC, Péréon Y, Perrier-Boeswillwald J, Bretaudeau G, Dondaine N, Bouzenard A, Pizzimenti M, Eymard B, Ferreiro A, Laporte J, Fauré J, Böhm J | 2021-09-17 | Calcium, Congenital myopathy, Excitation–contraction coupling, Muscle weakness, Neuromuscular disorder, Triad | Acta neuropathologica communications |
| Confirmation of early non-bulbar onset of amyotrophic lateral sclerosis in Spanish league soccer players. | Gamez J, Carmona F | 2021-09-15 | Amyotrophic lateral sclerosis, Early onset, Physical exercise, Risk factor, Soccer, Trauma | Journal of the neurological sciences |
| 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 |
| Cognitive decline in amyotrophic lateral sclerosis: Neuropathological substrate and genetic determinants. | Borrego-Écija S, Turon-Sans J, Ximelis T, Aldecoa I, Molina-Porcel L, Povedano M, Rubio MA, Gámez J, Cano A, Paré-Curell M, Bajo L, Sotoca J, Clarimón J, Balasa M, Antonell A, Lladó A, Sánchez-Valle R, Rojas-García R, Gelpi E | 2021-05-01 | ALS-FTD, Alzheimer’s disease, TDP-43 protein, amyotrophic lateral sclerosis, frontotemporal dementia, neuropathology | Brain pathology (Zurich, Switzerland) |
| A study of the phenotypic variability and disease progression in Laing myopathy through the evaluation of muscle imaging. | Muelas N, Frasquet M, Más-Estellés F, Martí P, Martínez-Vicente L, Sevilla T, Azorín I, Poyatos-García J, Argente-Escrig H, Vílchez R, Vázquez-Costa JF, Bataller L, Vilchez JJ | 2021-04-01 | MYH7, distal myopathy, heatmap, laing distal myopathy, muscle MRI | European journal of neurology |
| Plectin-related scapuloperoneal myopathy with treatment-responsive myasthenic syndrome. | Argente-Escrig H, Schultheis D, Kamm L, Schowalter M, Thiel C, Türk M, Clemen CS, Muelas N, Castañón MJ, Wiche G, Herrmann H, Vilchez JJ, Schröder R | 2021-02-01 | | Neuropathology and applied neurobiology |
| International Consensus Guidance for Management of Myasthenia Gravis: 2020 Update. | Narayanaswami P, Sanders DB, Wolfe G, Benatar M, Cea G, Evoli A, Gilhus NE, Illa I, Kuntz NL, Massey J, Melms A, Murai H, Nicolle M, Palace J, Richman D, Verschuuren J | 2021-01-19 | | Neurology |
| Spinal muscular atrophy: epidemiology and health burden in children - a Polish national healthcare database perspective before introduction of SMA-specific treatment. | Kostera-Pruszczyk A, Napiórkowski Ł, Szymańska K, Jędrzejczak J, Roszkowski M, Słowiński J, Frączek A, Ryglewicz D, Więckowska B | 2021-01-01 | epidemiology, healthcare burden, incidence, spinal muscular atrophy | Neurologia i neurochirurgia polska |
| Long-term survival analysis of masitinib in amyotrophic lateral sclerosis. | Mora JS, Bradley WG, Chaverri D, Hernández-Barral M, Mascias J, Gamez J, Gargiulo-Monachelli GM, Moussy A, Mansfield CD, Hermine O, Ludolph AC | 2021-01-01 | clinical trials, masitinib, therapy, tyrosine kinase inhibitor | Therapeutic advances in neurological disorders |
| E-Health & Innovation to Overcome Barriers in Neuromuscular Diseases. Report from the 1st eNMD Congress: Nice, France, March 22-23, 2019. | Pini J, Siciliano G, Lahaut P, Braun S, Segovia-Kueny S, Kole A, Hérnando I, Selb J, Schirinzi E, Duong T, Hogrel JY, Olmedo JJS, Vissing J, Servais L, Vincent-Genod D, Vuillerot C, Bannwarth S, Eggenspieler D, Vicart S, Diaz-Manera J, Lochmüller H, Sacconi S | 2021-01-01 | e-Health, eNMD congress, innovation, neuromuscular disease, unmet needs | Journal of neuromuscular diseases |
| Nusinersen safety and effects on motor function in adult spinal muscular atrophy type 2 and 3. | Maggi L, Bello L, Bonanno S, Govoni A, Caponnetto C, Passamano L, Grandis M, Trojsi F, Cerri F, Ferraro M, Bozzoni V, Caumo L, Piras R, Tanel R, Saccani E, Meneri M, Vacchiano V, Ricci G, Soraru' G, D'Errico E, Tramacere I, Bortolani S, Pavesi G, Zanin R, Silvestrini M, Politano L, Schenone A, Previtali SC, Berardinelli A, Turri M, Verriello L, Coccia M, Mantegazza R, Liguori R, Filosto M, Marrosu G, Siciliano G, Simone IL, Mongini T, Comi G, Pegoraro E | 2020-11-01 | | Journal of neurology, neurosurgery, and psychiatry |
| Persistent asymptomatic or mild symptomatic hyperCKemia due to mutations in ANO5: the mildest end of the anoctaminopathies spectrum. | Panadés-de Oliveira L, Bermejo-Guerrero L, de Fuenmayor-Fernández de la Hoz CP, Cantero Montenegro D, Hernández Lain A, Martí P, Muelas N, Vilchez JJ, Domínguez-González C | 2020-09-01 | ANO5 gene, Asymptomatic hyperCKemia, Calf hypertrophy, Exercise intolerance, Inflammatory biopsy, STIR sequences | Journal of neurology |
| HNRNPDL-related limb girdle muscular dystrophy in a Spanish family with scapulo-peroneal phenotype, the first family in Europe. | Vicente LM, Martí P, Azorín I, Olivé M, Muelas N, Vilchez JJ | 2020-07-15 | HNRNPDL, IBM, Inclusion body myopathies, LGMD D3, Limb girdle muscle dystrophy, Myopathy | Journal of the neurological sciences |
| Anti-Müllerian hormone as an ovarian reserve marker in women with the most frequent muscular dystrophies. | Parmova O, Vlckova E, Hulova M, Mensova L, Crha I, Stradalova P, Kralickova E, Jurikova L, Podborska M, Mazanec R, Dusek L, Jarkovsky J, Bednarik J, Vohanka S, Srotova I | 2020-06-05 | | Medicine |
| The Association of methylprednisolone dosing to cessation of myotonia in a patient with myotonic dystrophy type 1. | Horáková M, Horák T, Bednařík J, Voháňka S | 2020-05-01 | Corticosteroids, Methylprednisolone, Muscle relaxation, Myotonia, Myotonic dystrophy, Therapy | Neuromuscular disorders : NMD |
| Transthyretin stabilization activity of the catechol-O-methyltransferase inhibitor tolcapone (SOM0226) in hereditary ATTR amyloidosis patients and asymptomatic carriers: proof-of-concept study. | Gamez J, Salvadó M, Reig N, Suñé P, Casasnovas C, Rojas-Garcia R, Insa R | 2019-06-01 | Amyloidogenesis inhibitor, TTR aggregation, TTR stabilization, catechol O-methyltransferase inhibitors, drug repositioning, drug repurposing, hereditary ATTR amyloidosis, proof-of-concept, tolcapone, transthyretin | Amyloid : the international journal of experimental and clinical investigation : the official journal of the International Society of Amyloidosis |
| Haplotype Analysis of the First A4V-SOD1 Spanish Family: Two Separate Founders or a Single Common Founder? | Garcia C, Vidal-Taboada JM, Syriani E, Salvado M, Morales M, Gamez J | 2019-01-01 | A4V, ALS1, SOD1, amyotrophic lateral sclerosis, familial amyotrophic lateral sclerosis, founder effect, p.A5V | Frontiers in genetics |
| Intravenous immunoglobulin to prevent myasthenic crisis after thymectomy and other procedures can be omitted in patients with well-controlled myasthenia gravis. | Gamez J, Salvadó M, Carmona F, de Nadal M, Romero L, Ruiz D, Jáuregui A, Martínez O, Pérez J, Suñé P, Deu M | 2019-01-01 | clinical trial, immunoglobulin, myasthenia, myasthenic crisis, thymectomy | Therapeutic advances in neurological disorders |
| Intravenous immunoglobulin as monotherapy for myasthenia gravis during pregnancy. | Gamez J, Salvado M, Casellas M, Manrique S, Castillo F | 2017-12-15 | Delivery, IVIg, Monotherapy, Myasthenia gravis, Pregnancy, Transient neonatal myasthenia, Treatment | Journal of the neurological sciences |
