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Anaesthesia and neuromuscular disorders: what a neurologist needs to know
van den Bersselaar LR, Snoeck MMJ, Gubbels M, et al.
Practical Neurology, 2020
Clinical, morphological and genetic characterization of Brody disease: an international study of 40 patients
Molenaar JP, Verhoeven JI, Rodenburg RJ, et al.
Brain : a journal of neurology, 2020, 143, 2, p 452
Biallelic loss of function variants in SYT2 cause a treatable congenital onset presynaptic myasthenic syndrome
Donkervoort S, Mohassel P, Laugwitz L, et al.
American journal of medical genetics. Part A, 2020
Cytidine Diphosphate-Ribitol Analysis for Diagnostics and Treatment Monitoring of Cytidine Diphosphate-L-Ribitol Pyrophosphorylase A Muscular Dystrophy
van Tol W, van Scherpenzeel M, Alsady M, et al.
Clinical chemistry, 2019
Robust and accurate detection and sizing of repeats within the DMPK gene using a novel TP-PCR test.
Leferink M, Wong DPW, Cai S, et al.
Scientific Reports, 2019, 9, n1, p 8280
Panel-Based Exome Sequencing for Neuromuscular Disorders as a Diagnostic Service
Westra D, Schouten MI, Stunnenberg BC, et al.
Journal of Neuromuscular Diseases, 2019, 6, 2, p 241
Functional impairments, fatigue and quality of life in RYR1-related myopathies: A questionnaire study
van Ruitenbeek E, Custers JAE, Verhaak C, et al.
Neuromuscular disorders : NMD, 2019, 29, 1, p 30
Congenital titinopathy: Comprehensive characterisation and pathogenic insights
Oates EC, Jones KJ, Donkervoort S, et al.
Annals of neurology, 2018
Prevalence and mutation spectrum of skeletal muscle channelopathies in the Netherlands
Stunnenberg BC, Raaphorst J, Deenen JCW, et al.
Neuromuscular disorders : NMD, 2018
Phenotype and genotype of muscle ryanodine receptor rhabdomyolysis-myalgia syndrome
Witting N, Laforêt P, Voermans NC, et al.
Acta neurologica Scandinavica, 2018, 137, 5, p 452
Affected female carriers of MTM1 mutations display a wide spectrum of clinical and pathological involvement: delineating diagnostic clues
Biancalana V, Scheidecker S, Miguet M, et al.
Acta neuropathologica, 2017, 134, 6, p 889
Loss-of-function mutations in SCN4A cause severe foetal hypokinesia or 'classical' congenital myopathy
Zaharieva IT, Thor MG, Oates EC, et al.
Brain : a journal of neurology, 2016, 139, Pt3, p 674
Variants in SLC18A3, vesicular acetylcholine transporter, cause congenital myasthenic syndrome
O'Grady GL, Verschuuren C, Yuen M, et al.
Neurology, 2016, 87, 14, p 1442
RYR1-related myopathies: a wide spectrum of phenotypes throughout life
Snoeck M, van Engelen BG, Küsters B, et al.
European journal of neurology : the official journal of the European Federation of Neurological Societies, 2015, 22, 7, p 1094
Mosaicism for Dominant Collagen 6 Mutations as a Cause for Intrafamilial Phenotypic Variability
Donkervoort S, Hu Y, Stojkovic T, et al.
Human mutation, 2015, 36, 1, p 48
Missense mutations in beta-1,3-N-acetylglucosaminyltransferase 1 (B3GNT1) cause Walker-Warburg syndrome
Buysse K, Riemersma M, Powell G, et al.
Human molecular genetics, 2013, 22, 9, p. 1746-1754
A novel late-onset axial myopathy associated with mutations in the skeletal muscle ryanodine receptor (RYR1) gene
Loseth S, Voermans NC, Torbergsen T, et al.
Journal of neurology, 2013, 206, 6, p. 1504-1510
Mutations in RYR1 are a common cause of exertional myalgia and rhabdomyolysis
Dlamini N, Voermans NC, Lillis S, et al.
Neuromuscular disorders : NMD, 2013, 23, 7, p. 540-548
Best practice guidelines and recommendations on the molecular diagnosis of myotonic dystrophy types 1 and 2
Kamsteeg EJ, Kress W, Catalli C, et al.
European journal of human genetics, 2012, 20, 12, p. 1203-1208
Mutations in ISPD cause Walker-Warburg syndrome and defective glycosylation of alpha-dystroglycan
Roscioli T, Kamsteeg EJ, Buysse K, et al.
Nature genetics, 2012, Epub 2012/04/24
Brody syndrome: A clinically heterogeneous entity distinct from Brody disease : A review of literature and a cross-sectional clinical study in 17 patients
Voermans NC, Laan AE, Oosterhof A, et al.
Neuromuscular disorders : NMD, 2012, 22, 11, p. 944-954
Brody syndrome: a clinically heterogeneous entity distinct from Brody disease: a review of literature and a cross-sectional clinical study in 17 patients
Voermans NC, Laan AE, Oosterhof A, et al.
Neuromuscular disorders : NMD, 2012, 22, 11, p 944
