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Adult-onset Very Long-Chain Acyl-CoA Dehydrogenase Deficiency (VLCADD)
Fatehi F, Okhovat AA, Nilipour Y, et al.
European journal of neurology, 2020
Collagen VI-related limb-girdle syndrome caused by frequent mutation in COL6A3 gene with conflicting reports of pathogenicity
Stavusis J, Micule I, Wright NT, et al.
Neuromuscular disorders : NMD, 2020, 30, 6, p 483
A novel, pathogenic dinucleotide deletion in the mitochondrial MT-TY gene causing myasthenia-like features
Lim AZ, McMacken G, Rastelli F, et al.
Neuromuscular disorders : NMD, 2020
Global FKRP Registry: observations in more than 300 patients with Limb Girdle Muscular Dystrophy R9
Murphy LB, Schreiber-Katz O, Rafferty K, et al.
Annals of clinical and translational neurology, 2020, 7, 5, p 757
Expanding the disease phenotype of ADSSL1-associated myopathy in non-Korean patients
Mroczek M, Durmus H, Bijarnia-Mahay S, et al.
Neuromuscular disorders : NMD, 2020
POGLUT1 biallelic mutations cause myopathy with reduced satellite cells, alpha-dystroglycan hypoglycosylation and a distinctive radiological pattern
Servian-Morilla E, Cabrera-Serrano M, Johnson K, et al.
Acta neuropathologica, 2020
Sequential targeted exome sequencing of 1001 patients affected by unexplained limb-girdle weakness
Töpf A, Johnson K, Bates A, et al.
Genetics in medicine : official journal of the American College of Medical Genetics, 2020, 22, 9, p 1478
Multisystem proteinopathy due to a homozygous p.Arg159His VCP mutation: A tale of the unexpected
De Ridder W, Azmi A, Clemen CS, et al.
Neurology, 2019
Functional characterization of GYG1 variants in two patients with myopathy and glycogenin-1 deficiency
Hedberg-Oldfors C, De Ridder W, Kalev O, et al.
Neuromuscular disorders : NMD, 2019, 29, 12, p 951
POPDC3 Gene Variants Associate with a New Form of Limb Girdle Muscular Dystrophy
Vissing J, Johnson K, Töpf A, et al.
Annals of neurology, 2019
The clinical spectrum of the congenital myasthenic syndrome resulting from COL13A1 mutations
Rodríguez Cruz PM, Cossins J, Estephan EP, et al.
Brain : a journal of neurology, 2019, 142, 6, p 1547
SMCHD1 mutation spectrum for facioscapulohumeral muscular dystrophy type 2 (FSHD2) and Bosma arhinia microphthalmia syndrome (BAMS) reveals disease-specific localisation of variants in the ATPase domain.
Lemmers RJLF, van der Stoep N, Vliet PJV, et al.
Journal of medical genetics, 2019
Muscular dystrophy with arrhythmia caused by loss-of-function mutations in BVES
De Ridder W, Nelson I, Asselbergh B, et al.
Neurology. Genetics, 2019, 5, 2
FSHD type 2 and Bosma arhinia microphthalmia syndrome: Two faces of the same mutation
Mul K, Mul K, Lemmers RJLF, et al.
Neurology, 2018
Extending the clinical and mutational spectrum of TRIM32-related myopathies in a non-Hutterite population
Johnson K, De Ridder W, Töpf A, et al.
Journal of neurology, neurosurgery, and psychiatry, 2018
Recessive variants of MuSK are associated with late onset CMS and predominant limb girdle weakness
Owen D, Töpf A, Preethish-Kumar V, et al.
American Journal of Medical Genetics Part A, 2018
Congenital titinopathy: Comprehensive characterisation and pathogenic insights
Oates EC, Jones KJ, Donkervoort S, et al.
Annals of neurology, 2018
Clinical and research strategies for limb-girdle congenital myasthenic syndromes
O'Connor E, Töpf A, Zahedi RP, et al.
Annals of the New York Academy of Sciences, 2018, 1412, 1, p 102
A common CHRNE mutation in Brazilian patients with congenital myasthenic syndrome
Estephan EP, Sobreira CFDR, Dos Santos ACJ, et al.
Journal of neurology, 2018, 265, 3, p 708
Limb girdle muscular dystrophy due to mutations in POMT2
Østergaard ST, Johnson K, Stojkovic T, et al.
Journal of neurology, neurosurgery, and psychiatry, 2018, 89, 5, p 506
MEGF10 related myopathies: A new case with adult onset disease with prominent respiratory failure and review of reported phenotypes
Harris E, Marini Bettolo C, Töpf A, et al.
Neuromuscular disorders : NMD, 2018, 28, 1, p 48
Recessive mutations in the kinase ZAK cause a congenital myopathy with fibre type disproportion
Vasli N, Harris E, Karamchandani J, et al.
Brain : a journal of neurology, 2017, 140, 1, p 37
A homozygous DPM3 mutation in a patient with alpha-dystroglycan-related limb girdle muscular dystrophy
Van Den Bergh PYK, Sznajer Y, Van Parys V, et al.
Neuromuscular disorders : NMD, 2017, 27, 11, p 1043
A 'second truncation' in TTN causes early onset recessive muscular dystrophy
Harris E, Töpf A, Vihola A, et al.
Neuromuscular disorders : NMD, 2017, 27, 11, p 1009
Clinical and neuroimaging findings in two brothers with limb girdle muscular dystrophy due to LAMA2 mutations
Harris E, McEntagart M, Töpf A, et al.
Neuromuscular disorders : NMD, 2017, 27, 2, p 170
