Detalhe da pesquisa
1.
A novel homozygous variant (c.5876T > C: p. Leu1959Pro) in DYSF segregates with limb-girdle muscular dystrophy: a case report.
BMC Musculoskelet Disord
; 25(1): 241, 2024 Mar 27.
Artigo
em Inglês
| MEDLINE | ID: mdl-38539162
2.
Glioma Tumor Grading Using Radiomics on Conventional MRI: A Comparative Study of WHO 2021 and WHO 2016 Classification of Central Nervous Tumors.
J Magn Reson Imaging
; 2023 Nov 29.
Artigo
em Inglês
| MEDLINE | ID: mdl-38031466
3.
Clinical and genetic spectrum of a large cohort of patients with δ-sarcoglycan muscular dystrophy.
Brain
; 145(2): 596-606, 2022 04 18.
Artigo
em Inglês
| MEDLINE | ID: mdl-34515763
4.
A novel heterozygous missense MYH7 mutation potentially causes an autosomal dominant form of myosin storage myopathy with dilated cardiomyopathy.
BMC Cardiovasc Disord
; 23(1): 487, 2023 10 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-37794383
5.
Cardiomyopathy with lethal arrhythmias associated with inactivation of KLHL24.
Hum Mol Genet
; 28(11): 1919-1929, 2019 06 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-30715372
6.
Description of clinical features and genetic analysis of one ultra-rare (SPG64) and two common forms (SPG5A and SPG15) of hereditary spastic paraplegia families.
J Neurogenet
; 35(2): 84-94, 2021.
Artigo
em Inglês
| MEDLINE | ID: mdl-33771085
7.
Neurological Complications of COVID-19: A Rare Case of Bilateral Blindness.
J Emerg Med
; 61(6): e160-e163, 2021 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-34518048
8.
Reporting a rare form of myopathy, myopathy with extrapyramidal signs, in an Iranian family using next generation sequencing: a case report.
BMC Med Genet
; 21(1): 77, 2020 04 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-32293312
9.
LGMD2E is the most common type of sarcoglycanopathies in the Iranian population.
J Neurogenet
; 31(3): 161-169, 2017 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-28687063
10.
Late-onset pompe disease in Iran: A clinical and genetic report.
Muscle Nerve
; 55(6): 835-840, 2017 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-27649523
11.
A rare form of limb girdle muscular dystrophy (type 2E) seen in an Iranian family detected by autozygosity mapping.
J Neurogenet
; 30(1): 1-4, 2016 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-27276190
12.
Diagnosis and treatment of late-onset Pompe disease in the Middle East and North Africa region: consensus recommendations from an expert group.
BMC Neurol
; 15: 205, 2015 Oct 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-26471939
13.
Analysis of dystrophin gene in Iranian Duchenne and Becker muscular dystrophies patients and identification of a novel mutation.
Neurol Sci
; 36(11): 2011-7, 2015 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-26081009
14.
Hexosamine biosynthetic pathway mutations cause neuromuscular transmission defect.
Am J Hum Genet
; 88(2): 162-72, 2011 Feb 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-21310273
15.
A novel missense mutation in the GNE gene in an Iranian patient with hereditary inclusion body myopathy.
J Res Med Sci
; 19(8): 792-4, 2014 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-25422667
16.
Neutral lipid storage disease with myopathy: clinicopathological and genetic features of nine Iranian patients.
Neuromuscul Disord
; 35: 19-24, 2024 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-38194732
17.
Identification of COL6A2 mutations in progressive myoclonus epilepsy syndrome.
Hum Genet
; 132(3): 275-83, 2013 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-23138527
18.
Nemaline myopathy: reclassification of previously reported variants according to ACMG guidelines, and report of novel genetic variants.
Eur J Hum Genet
; 31(11): 1237-1250, 2023 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-37460656
19.
Bi-allelic loss of function variant in the NRCAM gene is associated with motor-predominant axonal polyneuropathy; the second report.
Mol Genet Genomic Med
; 11(4): e2131, 2023 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-36606341
20.
Co-occurrence of celiac disease and glycogen storage disease in a five-year-old patient with diabetes mellitus; a case report.
Clin Case Rep
; 11(8): e7804, 2023 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-37614289