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The genetic landscape of axonal neuropathies in the middle-aged and elderly: Focus on MME
Senderek J, Lassuthova P, Kabzinska D, et al.
Neurology, 2020
Targeted gene panel use in 2249 neuromuscular patients: the Australasian referral center experience
Beecroft SJ, Yau KS, Allcock RJN, et al.
Annals of clinical and translational neurology, 2020, 7, 3, p 353
Nebulin nemaline myopathy recapitulated in a compound heterozygous mouse model with both a missense and a nonsense mutation in Neb
Laitila JM, McNamara EL, Wingate CD, et al.
Acta neuropathologica communications, 2020, 8, 1, p 18
Motor neuron diseases caused by a novel VRK1 variant - A genotype/phenotype study
Sedghi M, Moslemi AR, Olivé M, et al.
Annals of clinical and translational neurology, 2019
Systemic AAV8-mediated delivery of a functional copy of muscle glycogen phosphorylase (Pygm) ameliorates disease in a murine model of McArdle disease
McNamara EL, Taylor RL, Clayton JS, et al.
Human molecular genetics, 2019
Recessive MYH7-related myopathy in two families
Beecroft SJ, van de Locht M, de Winter JM, et al.
Neuromuscular disorders : NMD, 2019, 29, 6, p 456
Myoglobinopathy is an adult-onset autosomal dominant myopathy with characteristic sarcoplasmic inclusions
Olivé M, Engvall M, Ravenscroft G, et al.
Nature communications, 2019, 10, 1
Recent advances in understanding congenital myopathies
Ravenscroft G, Bryson-Richardson RJ, Nowak KJ, et al.
F1000Research, 2018
Clinical Utility Gene Card for: autosomal dominant myotonia congenita (Thomsen Disease)
Coote DJ, Davis MR, Cabrera M, et al.
European journal of human genetics : EJHG, 2018
Congenital titinopathy: Comprehensive characterisation and pathogenic insights
Oates EC, Jones KJ, Donkervoort S, et al.
Annals of neurology, 2018
Mutations in ATP1A1 Cause Dominant Charcot-Marie-Tooth Type 2
Lassuthova P, Rebelo AP, Ravenscroft G, et al.
American journal of human genetics, 2018, 102, 3, p 505
Clinical Utility Gene Card for: Becker muscular dystrophy
Coote D, Davis MR, Cabrera M, et al.
European journal of human genetics : EJHG, 2018, 26, 7, p 1065
Ryanodine receptor type 3 (RYR3) as a novel gene associated with a myopathy with nemaline bodies
Nilipour Y, Nafissi S, Tjust AE, et al.
European journal of neurology, 2018, 25, 6, p 841
Bi-allelic mutations in MYL1 cause a severe congenital myopathy
Ravenscroft G, Ravenscroft G, Zaharieva IT, et al.
Human molecular genetics, 2018, 27, 24, p 4263
Genetics of neuromuscular fetal akinesia in the genomics era
Beecroft SJ, Beecroft SJ, Lombard M, et al.
Journal of medical genetics, 2018, 55, 8, p 505
A Roma founder BIN1 mutation causes a novel phenotype of centronuclear myopathy with rigid spine
Cabrera-Serrano M, Mavillard F, Biancalana V, et al.
Neurology, 2018, 91, 4
Expanding the phenotypic spectrum associated with mutations of DYNC1H1
Beecroft SJ, McLean CA, Delatycki MB, et al.
Neuromuscular disorders : NMD, 2017, 27, 7, p 607
Cystinosis distal myopathy, novel clinical, pathological and genetic features
Cabrera-Serrano M, Junckerstorff RC, Alisheri A, et al.
Neuromuscular disorders : NMD, 2017, 27, 9, p 873
Cost-effectiveness of massively parallel sequencing for diagnosis of paediatric muscle diseases
Schofield D, Alam K, Douglas L, et al.
NPJ genomic medicine, 2017, 2
New era in genetics of early-onset muscle disease: Breakthroughs and challenges
Ravenscroft G, Davis MR, Lamont P, et al.
Seminars in cell & developmental biology, 2017, 64, p 160
Variants in the Oxidoreductase PYROXD1 Cause Early-Onset Myopathy with Internalized Nuclei and Myofibrillar Disorganization
O'Grady GL, Best HA, Sztal TE, et al.
American journal of human genetics, 2016, 99, 5, p 1086
Diagnosis and aetiology of congenital muscular dystrophy: we are halfway there
O'Grady GL, Lek M, Lamandé SR, et al.
Annals of neurology, 2016, 80, 1, p 101
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
CAV3 mutations causing exercise intolerance, myalgia and rhabdomyolysis: Expanding the phenotypic spectrum of caveolinopathies
Scalco RS, Gardiner AR, Pitceathly RD, et al.
Neuromuscular disorders : NMD, 2016, 26, 8, p 504
Laing Distal Myopathy : Synonym: Laing Early-Onset Distal Myopathy
Lamont P, Laing NG
GeneReviews® [Internet], 2015
