ERN EURO-NMD

Neuromuscular diseases (NMDs) occur from early childhood to late adulthood and are characterised by muscle weakness and wasting, but may be associated with other symptoms, including fatigue, pain, numbness, blindness, swallowing difficulties, breathing difficulties and heart disease. Most NMDs are progressive and debilitating, with reduced lifespan and quality
of life.

There are significant gaps and disparities in access to diagnostics and treatment across Europe. Major challenges in improving outcomes include the delay in referral from primary care to a specialist centre, and managing the transition from paediatric to adult services.

ERN EURO-NMD unites Europe’s leading experts to provide patients with access to specialist care through virtual and in-person consultations. The network aims to reduce time to diagnosis by 40% in its first 5 years, to improve diagnostic yield by 15% and to increase access to appropriate care pathways.

In addition, ERN EURO-NMD will develop new guidelines and provide healthcare professionals and patients with disease-specific best-practice information. The knowledge generated and curated by the network will be widely available through eHealth tools. Building on a strong legacy of cooperation, the network will also foster collaborations with the potential to drive research and therapy development to address unmet patient needs.

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TitleAuthorsDateKeywordsIssue name
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 A2024-06-05Autosomal recessive inheritance, Distal arthrogryposis type-1, MYBPC1Gene
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 F2024-05-11Motor function, Risdiplam, SMA, Safety, Spinal muscular atrophyJournal 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 G2024-05-08e-Health, neuromuscular diseases, remote monitoring, telemedicineJournal 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 B2024-05-02CMS, genetic, myasthenia, neuromuscular junctionBrain : a journal of neurology
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 S2024-04-26Amyotrophic lateral sclerosis, Biomarker, Lower motor neuron, Motor unit number index, PrognosisClinical 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 J2024-04-01Journal 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 J2024-03-30ATTR, Amiloidosis por transtirretina, Polineuropatía, Polyneuropathy, Real-life, Tafamidis, Transthyretin amyloidosis, Vida realMedicina 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 S2024-03-27Muscle & 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 E2024-03-19ER stress, ERO1, SEPN1, TUDCA, core myopathy, multi mini-core diseaseCell 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 A2024-02-01Comorbidity, DaT Scan, Epidemiology, Head drop, Late-onset myasthenia gravis, Parkinson’s diseaseNeurological 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 S2024-02-01Spinal muscular atrophy, children, functional assessment, spatial exploration, upper limbDisability 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 R2024-01-16amyotrophic lateral sclerosis, frontotemporal dementia, motor neuron disease, neuropathologyBrain : 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 J2023-12-01Multisystemic proteinopathy, Muscle MRI, VCP myopathy, ValosinJournal 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 A2023-12-01Frail elderly, Iatrogenic diseases, Myasthenia gravis, PrognosisJournal 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 F2023-10-01Neurology 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 A2023-08-04Computed tomography–guided lumbar puncture, Functional tests, Nusinersen, Patient global impression – improvement, SMN2 gene, Scoliosis, Spinal muscular atrophyOrphanet 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 M2023-08-01encephalitis, myositis, stem cell transplant, toxoplasmosisTransplant 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 HS2023-07-12Muscle disease, PROM, neuromuscular disorder, patient reported outcome measures, psychometric propertiesDisability 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 G2023-06-01Emery-Dreifuss, Heart, LMNA, Lamins, MyopathyNeuromuscular 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 R2023-06-01ER-to-Golgi traffic, Intellectual disability, Limb-girdle, Mitochondria, Myopathy, TANGO2Neuromuscular 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 R2023-06-01Muscle & 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 P2023-06-01Amyloidosis, Glu89Lys, founder effect, hereditary ATTR, transthyretinAmyloid : 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 R2023-04-18amyotrophic lateral sclerosis (ALS), biomarker, genetics, neurofilament light (NfL) protein, neuroinflammation, pharmacodynamic biomarker, prognosisCells
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 F2023-04-01Evrysdi, Pharmacodynamics, Risdiplam, Safety, Spinal muscular atrophyNeurology 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 X2023-04-01Autoantibodies, Autoimmune Diseases, Autoimmunity, PolymyositisAnnals of the rheumatic diseases
Follow-up regimens for carriers of hereditary transthyretin variants.Losada-López IA, Kapetanovic-García S, Sevilla-Mantecón T, Muñoz-Beamud F2023-03-10Medicina 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 EH2023-02-28Neurology
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 E2023-02-14Neurology
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 X2023-02-01Autoantibodies, Mass spectrometry, Systemic sclerosis, Telomerase, TelomereJournal 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 B2023-01-13adherence, disability, home-based rehabilitation, low back pain, muscle strength, muscular endurance, pain, paraspinal muscles, telemonitoringInternational 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 B2023-01-01function tests, low back pain, muscle strength, muscular endurance, myotonic dystrophy type 2 (MD2), neuromuscular diseases (NMD), paraspinal muscles, respiratory musclesFrontiers 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 F2023-01-01PloS one
Case report: radiation-induced lumbosacral plexopathy - a very late complication of radiotherapy for cervical cancer.Krkoska P, Kazda T, Vlazna D, Adamova B2022-12-12Case report, Cervical cancer, Lumbosacral plexus, Radiation-induced lumbosacral plexopathy, RadiotherapyBMC 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 E2022-12-01Neurology. 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 MMJ2022-12-01anaesthesia, malignant hyperthermia, myopathy, neuromuscular disorders, perioperative careEuropean 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 M2022-12-01Clinical trial, Familial amyloid polyneuropathy, Hereditary transthyretin amyloidosis, Inotersen, Peripheral neuropathies, PolyneuropathyJournal 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 J2022-11-01European 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 JJ2022-11-01Annals 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 R2022-08-19TARDBP, TDP-43, juvenile amyotrophic lateral sclerosis, upper motor neuron predominant disorderGenes
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 S2022-08-01Biomarkers, Domagrozumab, Duchenne muscular dystrophy, Imaging, MRI, Neuromuscular diseaseJournal 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 KM2022-07-01FSHD, controlled trial, facioscapulohumeral muscular dystrophy, randomizedMuscle & 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 J2022-04-18LGMD-R6/2F, SGCD, delta-sarcoglycan, muscular dystrophies, registriesBrain : a journal of neurology
Myasthenia gravis-treatment and severity in nationwide cohort.Sobieszczuk E, Napiórkowski Ł, Szczudlik P, Kostera-Pruszczyk A2022-04-01Myasthenia gravis, hospitalization, immunoglobulins, immunosuppression, mortalityActa 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 A2022-02-24alternative splicing, mitochondrial calcium homeostasis, myogenic differentiation, skeletal muscleInternational 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 FJ2022-02-24Flow cytometry, Inflammatory myopathy, Lymphocytes, Muscular dystrophy, Myofiber necrosis, MyopathyJournal 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 E2022-02-01European journal of pain (London, England)
Functional Ability and Physical Activity in Hereditary Neuromuscular Diseases.Andries A, Van Walsem MR, Ørstavik K, Frich JC2022-01-01Neuromuscular diseases, charcot-marie-tooth disease, exercise, muscular dystrophies, physical functional performanceJournal 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 B2022-01-01European 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 R2021-12-03CTG repeat expansions, MBNL1 protein, alternative splicing, antisense oligonucleotide, microRNAs, myotonic dystrophy, therapeutic gene modulation, tissue distribution, transcriptomicsMolecular 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 B2021-12-01The 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 S2021-10-26COVID-19, Neuromuscular diseases, Prognosis, Risk factorOrphanet 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 S2021-10-01Amyotrophic lateral sclerosis, Transcranial magnetic stimulation, Triple stimulation technique, Upper motor neuronClinical 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 J2021-10-01COVID-19, corticosteroids, immunosuppression, myasthenia gravis, rituximabEuropean 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 J2021-09-17Calcium, Congenital myopathy, Excitation–contraction coupling, Muscle weakness, Neuromuscular disorder, TriadActa neuropathologica communications
Confirmation of early non-bulbar onset of amyotrophic lateral sclerosis in Spanish league soccer players.Gamez J, Carmona F2021-09-15Amyotrophic lateral sclerosis, Early onset, Physical exercise, Risk factor, Soccer, TraumaJournal 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 G2021-07-01LMNA, early onset, laminopathies, muscular dystrophy, striated muscleBrain 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 E2021-05-01ALS-FTD, Alzheimer’s disease, TDP-43 protein, amyotrophic lateral sclerosis, frontotemporal dementia, neuropathologyBrain 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 JJ2021-04-01MYH7, distal myopathy, heatmap, laing distal myopathy, muscle MRIEuropean 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 R2021-02-01Neuropathology 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 J2021-01-19Neurology
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 B2021-01-01epidemiology, healthcare burden, incidence, spinal muscular atrophyNeurologia 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 AC2021-01-01clinical trials, masitinib, therapy, tyrosine kinase inhibitorTherapeutic 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 S2021-01-01e-Health, eNMD congress, innovation, neuromuscular disease, unmet needsJournal 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 E2020-11-01Journal 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 C2020-09-01ANO5 gene, Asymptomatic hyperCKemia, Calf hypertrophy, Exercise intolerance, Inflammatory biopsy, STIR sequencesJournal 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 JJ2020-07-15HNRNPDL, IBM, Inclusion body myopathies, LGMD D3, Limb girdle muscle dystrophy, MyopathyJournal 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 I2020-06-05Medicine
The Association of methylprednisolone dosing to cessation of myotonia in a patient with myotonic dystrophy type 1.Horáková M, Horák T, Bednařík J, Voháňka S2020-05-01Corticosteroids, Methylprednisolone, Muscle relaxation, Myotonia, Myotonic dystrophy, TherapyNeuromuscular 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 R2019-06-01Amyloidogenesis inhibitor, TTR aggregation, TTR stabilization, catechol O-methyltransferase inhibitors, drug repositioning, drug repurposing, hereditary ATTR amyloidosis, proof-of-concept, tolcapone, transthyretinAmyloid : 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 J2019-01-01A4V, ALS1, SOD1, amyotrophic lateral sclerosis, familial amyotrophic lateral sclerosis, founder effect, p.A5VFrontiers 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 M2019-01-01clinical trial, immunoglobulin, myasthenia, myasthenic crisis, thymectomyTherapeutic advances in neurological disorders
Intravenous immunoglobulin as monotherapy for myasthenia gravis during pregnancy.Gamez J, Salvado M, Casellas M, Manrique S, Castillo F2017-12-15Delivery, IVIg, Monotherapy, Myasthenia gravis, Pregnancy, Transient neonatal myasthenia, TreatmentJournal of the neurological sciences
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Last update: May 18th, 2024 on 01:30