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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
Heterozygous CAPN3 missense variants causing autosomal-dominant calpainopathy in seven unrelated families
Gonzalez-Mera L, Ravenscroft G, Cabrera-Serrano M, et al.
Neuropathology and applied neurobiology, 2020
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
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
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
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
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
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
Pathophysiological concepts in the congenital myopathies: blurring the boundaries, sharpening the focus
Ravenscroft G, Laing NG, Bonnemann CG
Brain : a journal of neurology, 2015, 138, Pt 2, p 246
Expanding the phenotype of GMPPB mutations
Cabrera-Serrano M, Ghaoui R, Ravenscroft G, et al.
Brain : a journal of neurology, 2015, 138, Pt 4, p 836
Next generation sequencing in a large cohort of patients presenting with neuromuscular disease before or at birth
Todd EJ, Yau KS, Ong R, et al.
Orphanet journal of rare diseases, 2015, 10
SPEG Interacts with Myotubularin, and Its Deficiency Causes Centronuclear Myopathy with Dilated Cardiomyopathy
Agrawal PB, Pierson CR, Joshi M, et al.
American journal of human genetics, 2014, 95, 2, p 218
Leiomodin-3 dysfunction results in thin filament disorganization and nemaline myopathy
Yuen M, Sandaradura SA, Dowling JJ, et al.
The Journal of clinical investigation, 2014, 124, 11, p 4693
KLHL40 deficiency destabilizes thin filament proteins and promotes nemaline myopathy
Garg A, O'Rourke J, Long C, et al.
The Journal of clinical investigation, 2014, 124, 8, p 3529
Skeletal muscle alpha-actin diseases (actinopathies) : pathology and mechanisms
Nowak KJ, Ravenscroft G, Laing NG
Acta neuropathologica, 2013, 125, 1, p. 19-32
Mutations in KLHL40 are a frequent cause of severe autosomal-recessive nemaline myopathy
Ravenscroft G, Miyatake S, Lehtokari VL, et al.
American journal of human genetics (The), 2013, 93, 1, p 6
