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Brown-Vialetto-Van Laere and Fazio-Londe syndromes: SLC52A3 mutations with puzzling phenotypes and inheritance
Gayathri S, Gowda VK, Udhayabanu T, et al.
European journal of neurology, 2020
Novel variants broaden the phenotypic spectrum of PLEKHG5-associated neuropathies
Chen Z, Maroofian R, Basak AN, et al.
European journal of neurology, 2020
Biallelic mutations in SORD cause a common and potentially treatable hereditary neuropathy with implications for diabetes
Cortese A, Zhu Y, Rebelo AP, et al.
Nature genetics, 2020, 52, 5, p 473
Hereditary polyneuropathy with optic atrophy due to PDXK variant leading to impaired Vitamin B6 metabolism
Keller N, Mendoza-Ferreira N, Maroofian R, et al.
Neuromuscular disorders : NMD, 2020
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
Biallelic MADD variants cause a phenotypic spectrum ranging from developmental delay to a multisystem disorder
Schneeberger PE, Kortum F, Korenke GC, et al.
Brain : a journal of neurology, 2020, 143, 8, p 2437
Targeted next-generation sequencing panels in the diagnosis of Charcot-Marie-Tooth disease
Cortese A, Wilcox JE, Polke JM, et al.
Neurology, 2020, 94, 1
Genotype-Phenotype Correlations in Charcot-Marie-Tooth Disease Due to MTMR2 Mutations and Implications in Membrane Trafficking
Wang H, Kacar Bayram A, Sprute R, et al.
Frontiers in neuroscience, 2019, p 974
Biallelic mutations in neurofascin cause neurodevelopmental impairment and peripheral demyelination
Efthymiou S, Salpietro V, Malintan N, et al.
Brain : a journal of neurology, 2019
A novel homozygous FBXO38 variant causes an early-onset distal hereditary motor neuronopathy type IID
Akcimen F, Vural A, Durmus H, et al.
Journal of human genetics, 2019
Genetic and phenotypic characterisation of inherited myopathies in a tertiary neuromuscular centre
Bugiardini E, Khan AM, Phadke R, et al.
Neuromuscular disorders : NMD, 2019
PDXK mutations cause polyneuropathy responsive to PLP supplementation
Chelban V, Wilson MP, Warman Chardon J, et al.
Annals of neurology, 2019
Continuum of phenotypes in hereditary motor and sensory neuropathy with proximal predominance and Charcot-Marie-Tooth patients with TFG mutation
Khani M, Taheri H, Shamshiri H, et al.
American Journal of Medical Genetics Part A, 2019
The Diagnostic Value of MRI Pattern Recognition in Distal Myopathies
Bugiardini E, Bugiardini E, Morrow JM, et al.
Frontiers in neurology, 2018, 9
Atypical periodic paralysis and myalgia: A novel RYR1 phenotype
Matthews E, Neuwirth C, Jaffer F, et al.
Neurology, 2018, 90, 5, p 412
GYG1 causing progressive limb girdle myopathy with onset during teenage years (polyglucosan body myopathy 2)
Desikan M, Scalco RS, Manole A, et al.
Neuromuscular disorders : NMD, 2018, 28, 4, p 346
Homozygous mutations in VAMP1 cause a presynaptic congenital myasthenic syndrome
Salpietro V, Lin W, Delle Vedove A, et al.
Annals of neurology, 2017, 81, 4, p 597
Clinical, pathological and functional characterization of riboflavin-responsive neuropathy
Manole A, Jaunmuktane Z, Hargreaves I, et al.
Brain : a journal of neurology, 2017, 140, 11, p 2820
Riboflavin Responsive Mitochondrial Dysfunction in Neurodegenerative Diseases
Udhayabanu T, Manole A, Rajeshwari M, et al.
Journal of clinical medicine, 2017, 6, 5
Mutations in noncoding regions of GJB1 are a major cause of X-linked CMT
Tomaselli PJ, Rossor AM, Horga A, et al.
Neurology, 2017, 88, 15, p 1445
Pilot phenotype and natural history study of hereditary neuropathies caused by mutations in the HSPB1 gene
Rossor AM, Morrow JM, Polke JM, et al.
Neuromuscular disorders : NMD, 2017, 27, 1, p 50
Calpainopathy with macrophage-rich, regional inflammatory infiltrates
Schutz PW, Scalco RS, Barresi R, et al.
Neuromuscular disorders : NMD, 2017, 27, 8, p 738
Next-generation sequencing in neuromuscular diseases
Efthymiou S, Manole A, Houlden H
Current opinion in neurology, 2016, 29, 5, p 527
Rare variants in SQSTM1 and VCP genes and risk of sporadic inclusion body myositis
Gang Q, Bettencourt C, Machado PM, et al.
Neurobiology of aging, 2016, 47, p 218.e1
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
