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Journal of Neurology, ISSN 0340-5354, 10/2019, Volume 266, Issue 10, pp. 2524 - 2534
Autosomal dominant limb girdle muscular dystrophy D3 HNRNPDL-related is a rare dominant myopathy caused by mutations in HNRNPDL. Only three unrelated families... 
LGMDD3 HNRNPDL -related | Neurology | HNRNPDL gene | Neurosciences | Medicine & Public Health | Rimmed vacuolar myopathy | Autophagy | Neuroradiology | Phenotypes | Magnetic resonance imaging | Preservation | Biopsy | Morphology | Mutation | Dystrophy | Vacuoles | Muscular dystrophy | Myopathy
Journal Article
Orphanet Journal of Rare Diseases, ISSN 1750-1172, 02/2016, Volume 11, Issue 1, p. 17
Background: In the past few years there has been a political imperative driving the creation of European Reference Networks as these are considered a promising... 
European policies | Grouping of rare diseases | Rare Diseases | European reference networks | MEDICINE, RESEARCH & EXPERIMENTAL | GENETICS & HEREDITY | Delivery of Health Care | Europe | Humans | Rare Diseases - classification | Databases, Factual | Rare diseases | Care and treatment | United States | Medical care | Diagnosis | Management | Risk factors
Journal Article
Journal of Medical Genetics, ISSN 0022-2593, 10/2019, Volume 56, Issue 10, pp. 693 - 700
BackgroundVariants in the Structural Maintenance of Chromosomes flexible Hinge Domain-containing protein 1 (SMCHD1) can cause facioscapulohumeral muscular... 
Journal Article
Neuromuscular Disorders, ISSN 0960-8966, 2016
Highlights • Full report of the 215th ENMC meeting dedicated to VCP related disease (IBMPFD) • Establishment of a Consortium for VCP related disease • Clinical... 
Neurology
Journal Article
Journal Article
Neuropediatrics, ISSN 0174-304X, 08/2017, Volume 48, Issue 4, pp. 294 - 308
Abstract The congenital myasthenic syndromes (CMS) are a diverse group of diseases, which result in an increasing range of phenotypes, but which are all due to... 
Review Article | congenital myasthenic syndromes | genetic diagnosis | neurophysiology | neuromuscular junction | PLATE ACETYLCHOLINESTERASE DEFICIENCY | MUSCULAR-DYSTROPHY | RECEPTOR | CLINICAL NEUROLOGY | EPSILON-SUBUNIT | MUTATIONS CAUSE | AFFINITY CHOLINE TRANSPORTER | CHANNEL | EPISODIC APNEA | MOTOR NEUROPATHY | PEDIATRICS | NEUROMUSCULAR-JUNCTION
Journal Article
Journal Article
Neuromuscular Disorders, ISSN 0960-8966, 11/2018, Volume 28, Issue 11, pp. 965 - 968
Clinical data regarding the use of enzyme replacement therapy (ERT) during pregnancy in late-onset Pompe disease (LOPD) is still scarce. We present the... 
Pompe disease | Pregnancy | Foetus | Alglucosidase alfa | Enzyme replacement therapy | WOMEN | NEUROSCIENCES | CLINICAL NEUROLOGY | Women | Enzymes | Care and treatment | Pregnant women | Growth | Physiological aspects | Fetus | Health aspects | Biopharmaceutics
Journal Article
American Journal of Medical Genetics Part A, ISSN 1552-4825, 07/2018, Volume 176, Issue 7, pp. 1594 - 1601
Congenital myasthenic syndrome (CMS) is a heterogeneous disorder that causes fatigable muscle weakness. CMS has been associated with variants in the MuSK gene... 
congenital myasthenic syndrome | limb girdle | late onset | muscle‐specific kinase | muscle-specific kinase | TARGET | GENETICS & HEREDITY | MUTATIONS | Medicine, Experimental | Medical research | Analysis | Phenotypes | Salbutamol | Esterase | Kinases
Journal Article
Journal of Neuromuscular Diseases, ISSN 2214-3599, 2015, Volume 2, Issue Suppl 2, pp. S21 - S29
Congenital myasthenic syndromes are a heterogeneous group of genetically determined disorders characterized by impaired neuromuscular transmission. They... 
Journal Article