Détail de l'auteur
Documents disponibles écrits par cet auteur
trié(s) par (Pertinence décroissant(e), Date de parution décroissant(e), Date de parution décroissant(e), Système de projection du document croissant(e)) Mettre toutes les notices dans le panier Faire une suggestion Ajouter un critère de recherche
Sporadic late-onset nemaline myopathy with monoclonal gammopathy of undetermined significance: Report of four patients
Okhovat AA, Nilipour Y, Boostani R, et al.
Neuromuscular disorders : NMD, 2021, 31, 1, p 29
BVVL/ FL: features caused by SLC52A3 mutations; WDFY4 and TNFSF13B may be novel causative genes
Khani M, Shamshiri H, Taheri H, et al.
Neurobiology of aging, 2020
Adult-onset Very Long-Chain Acyl-CoA Dehydrogenase Deficiency (VLCADD)
Fatehi F, Okhovat AA, Nilipour Y, et al.
European journal of neurology, 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
Molecular Diagnosis of Hereditary Neuropathies by Whole Exome Sequencing and Expanding the Phenotype Spectrum
Taghizadeh S, Vazehan R, Beheshtian M, et al.
Archives of iranian medicine, 2020, 23, 7, p 426
Deep geno- and phenotyping in two consanguineous families with CMT2 reveals HADHA as an unusual disease-causing gene and an intronic variant in GDAP1 as an unusual mutation
Khani M, Taheri H, Shamshiri H, et al.
Journal of neurology, 2020
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
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
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
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
Distinct Clinical and Genetic Findings in Iranian Patients With Glycogen Storage Disease Type 3
Nazari F, Nazari F, Sinaei F, et al.
Journal of clinical neuromuscular disease, 2018, 19, 4, p 203
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
Phenotypic stratification and genotype-phenotype correlation in a heterogeneous, international cohort of GNE myopathy patients: First report from the GNE myopathy Disease Monitoring Program, registry portion
Pogoryelova O, Cammish P, Mansbach H, et al.
Neuromuscular disorders : NMD, 2018, 28, 2, p 158
Genotype and phenotype analysis of 43 Iranian facioscapulohumeral muscular dystrophy patients; Evidence for anticipation
Alavi A, Esmaeili S, Nafissi S, et al.
Neuromuscular disorders : NMD, 2018, 28, 4, p 303
LGMD2E is the most common type of sarcoglycanopathies in the Iranian population
Alavi A, Esmaeili S, Nilipour Y, et al.
Journal of neurogenetics, 2017, 31, 3, p 161
Late-onset Pompe disease in Iran, a clinical and genetic report
Nazari F, Sinaei F, Nilipour Y, et al.
Muscle & Nerve, 2017, 55, 6, p 835
Improved diagnostic yield of neuromuscular disorders applying clinical exome sequencing in patients arising from a consanguineous population
Fattahi Z, Kalhor Z, Fadaee M, et al.
Clinical genetics, 2016, 91, 3, p 386
Identification of novel TFG mutation in HMSN-P pedigree: Emphasis on variable clinical presentations
Khani M, Shamshiri H, Alavi A, et al.
Journal of the neurological sciences, 2016, 369, p 318
An international clinimetric evaluation of the MG-QOL15, resulting in slight revision and subsequent validation of the MG-QOL15r
Burns TM, Sadjadi R, Utsugisawa K, et al.
Muscle & Nerve, 2016, 54, 6, p 1015
Report of a patient with limb-girdle muscular dystrophy, ptosis and ophthalmoparesis caused by plectinopathy
Fattahi Z, Kahrizi K, Nafissi S, et al.
Archives of iranian medicine, 2015, 18, 1, p 60
Diagnosis and treatment of late-onset Pompe disease in the Middle East and North Africa region: consensus recommendations from an expert group
Al Jasmi F, Al Jumah M, Alquarni F, et al.
BMC neurology, 2015, 15
Dysferlinopathy in Iran: Clinical and genetic report
Fatehi F, Nafissi S, Urtizberea JA, et al.
Journal of the neurological sciences, 2015, 359, 1-2, p 256
HMSN-P caused by p.Pro285Leu mutation in TFG is not confined to patients with Far East ancestry
Alavi A, Shamshiri H, Nafissi S, et al.
Neurobiology of aging, 2015, 36, 3, p 1606
Correlation between distribution of muscle weakness, electrophysiological findings and CTG expansion in myotonic dystrophy
Khoshbakht R, Soltanzadeh A, Zamani B, et al.
Journal of clinical neuroscience, 2014, 21, 7, p. 1123-1126
Ullrich Congenital Muscular Dystrophy (UCMD): Clinical and Genetic Correlations
Bozorgmehr B, Kariminejad A, Nafissi S, et al.
Iranian journal of child neurology, 2013, 7, 3, p 15
