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Auteur Nafissi S |
Documents disponibles écrits par cet auteur



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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
Revue : Neuromuscular disorders : NMD, 31, 1 Titre : Sporadic late-onset nemaline myopathy with monoclonal gammopathy of undetermined significance: Report of four patients Type de document : Article Auteurs : Okhovat AA ; Nilipour Y ; Boostani R ; Vahabizad F ; Najmi S ; Nafissi S ; Fatehi F Editeur : England Année de publication : 01/2021 Pages : p 29 Langues : Anglais (eng) Pubmed / DOI : Pubmed : 33308940 / DOI : 10.1016/j.nmd.2020.11.004
N° Profil MNM : 2020122 En ligne : http://www.ncbi.nlm.nih.gov/pubmed/33308940 Avis des lecteurs Aucun avis, ajoutez le vôtre !
(mauvais) 15 (excellent)
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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
Revue : Neurobiology of aging Titre : BVVL/ FL: features caused by SLC52A3 mutations; WDFY4 and TNFSF13B may be novel causative genes Type de document : Article Auteurs : Khani M ; Shamshiri H ; Taheri H ; Hardy J ; Bras JT ; Carmona S ; Moazzeni H ; Alavi A ; Heshmati A ; Taghizadeh P ; Nilipour Y ; Ghazanfari T ; Shahabi M ; Okhovat AA ; Rohani M ; Valle G ; Boostani R ; Abdi S ; Eshghi S ; Nafissi S ; Elahi E Editeur : United States Année de publication : 05/10/2020 Langues : Anglais (eng) Pubmed / DOI : Pubmed : 33189404 / DOI : 10.1016/j.neurobiolaging.2020.09.021
N° Profil MNM : 2020112 En ligne : http://www.ncbi.nlm.nih.gov/pubmed/33189404 Avis des lecteurs Aucun avis, ajoutez le vôtre !
(mauvais) 15 (excellent)
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Adult-onset Very Long-Chain Acyl-CoA Dehydrogenase Deficiency (VLCADD)
Fatehi F, Okhovat AA, Nilipour Y, et al.
European journal of neurology, 2020
Revue : European journal of neurology Titre : Adult-onset Very Long-Chain Acyl-CoA Dehydrogenase Deficiency (VLCADD) Type de document : Article Auteurs : Fatehi F ; Okhovat AA ; Nilipour Y ; Mroczek M ; Straub V ; Töpf A ; Palibrk A ; Peric S ; Rakocevic Stojanovic V ; Najmabadi H ; Nafissi S Editeur : England Année de publication : 06/2020 Langues : Anglais (eng) Pubmed / DOI : Pubmed : 32558070 / DOI : 10.1111/ene.14402
N° Profil MNM : 2020061 En ligne : http://www.ncbi.nlm.nih.gov/pubmed/32558070 Avis des lecteurs Aucun avis, ajoutez le vôtre !
(mauvais) 15 (excellent)
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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
Revue : Acta neuropathologica Titre : POGLUT1 biallelic mutations cause myopathy with reduced satellite cells, alpha-dystroglycan hypoglycosylation and a distinctive radiological pattern Type de document : Article Auteurs : Servian-Morilla E ; Cabrera-Serrano M ; Johnson K ; Pandey A ; Ito A ; Rivas E ; Chamova T ; Muelas N ; Mongini T ; Nafissi S ; Claeys KG ; Grewal RP ; Takeuchi M ; Hao H ; Bonnemann C ; Lopes Abath Neto O ; Medne L ; Brandsema J ; Töpf A ; Taneva A ; Vilchez JJ ; Tournev I ; Haltiwanger RS ; Takeuchi H ; Jafar-Nejad H ; Straub V ; Paradas C Editeur : Germany Année de publication : 01/2020 Langues : Anglais (eng) Mots-clés : dystrophie musculaire ; dystrophie musculaire des ceintures ; LGMD R21 liee au gene POGLUT1 ; maladie neuromusculaire Pubmed / DOI : Pubmed : 31897643 / DOI : 10.1007/s00401-019-02117-6
N° Profil MNM : 2020011 En ligne : http://www.ncbi.nlm.nih.gov/pubmed/31897643 Avis des lecteurs Aucun avis, ajoutez le vôtre !
(mauvais) 15 (excellent)
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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
Revue : Archives of iranian medicine, 23, 7 Titre : Molecular Diagnosis of Hereditary Neuropathies by Whole Exome Sequencing and Expanding the Phenotype Spectrum Type de document : Article Auteurs : Taghizadeh S ; Vazehan R ; Beheshtian M ; Sadeghinia F ; Fattahi Z ; Mohseni M ; Arzhangi S ; Nafissi S ; Kariminejad A ; Najmabadi H ; Kahrizi K Editeur : Iran Année de publication : 2020 Pages : p 426 Langues : Anglais (eng) Pubmed / DOI : Pubmed : 32657593 / DOI : 10.34172/aim.2020.39
N° Profil MNM : 2020071 En ligne : http://www.ncbi.nlm.nih.gov/pubmed/32657593 Avis des lecteurs Aucun avis, ajoutez le vôtre !
(mauvais) 15 (excellent)
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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