Detalles de la búsqueda
1.
A Novel Homozygous Variant in the MCOLN1 Gene Associated With Severe Oromandibular Dystonia and Parkinsonism.
Can J Neurol Sci
; : 1-9, 2024 Mar 27.
Artículo
en Inglés
| MEDLINE | ID: mdl-38532569
2.
JAM2 variants can be more common in primary familial brain calcification (PFBC) cases than those appear; may be due to a founder mutation.
Neurol Sci
; 2024 Mar 05.
Artículo
en Inglés
| MEDLINE | ID: mdl-38441788
3.
Clinical and genetic spectrum of a large cohort of patients with δ-sarcoglycan muscular dystrophy.
Brain
; 145(2): 596-606, 2022 04 18.
Artículo
en Inglés
| MEDLINE | ID: mdl-34515763
4.
The first reports of FA2H-associated neurodegeneration from two unrelated Iranian families.
Neurol Sci
; 44(12): 4359-4362, 2023 Dec.
Artículo
en Inglés
| MEDLINE | ID: mdl-37410270
5.
A case report of concurrent occurrence of two inherited axonopathies within a family: the benefit of whole-exome sequencing.
Int J Neurosci
; : 1-6, 2023 Sep 15.
Artículo
en Inglés
| MEDLINE | ID: mdl-37712628
6.
Neurodegeneration with Brain Iron Accumulation and a Brief Report of the Disease in Iran.
Can J Neurol Sci
; 49(3): 338-351, 2022 05.
Artículo
en Inglés
| MEDLINE | ID: mdl-34082843
7.
Anticipation Can Be More Common in Hereditary Spastic Paraplegia with SPAST Mutations Than It Appears.
Can J Neurol Sci
; 49(5): 651-661, 2022 09.
Artículo
en Inglés
| MEDLINE | ID: mdl-34353391
8.
The second family affected with a PRDM8-related disease.
Neurol Sci
; 43(6): 3847-3855, 2022 Jun.
Artículo
en Inglés
| MEDLINE | ID: mdl-35034233
9.
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.
Artículo
en Inglés
| MEDLINE | ID: mdl-33771085
10.
Clinical spectrum in multiple families with primary COQ10 deficiency.
Am J Med Genet A
; 185(2): 440-452, 2021 02.
Artículo
en Inglés
| MEDLINE | ID: mdl-33215859
11.
CAPN1 and hereditary spastic paraplegia: a novel variant in an Iranian family and overview of the genotype-phenotype correlation.
Int J Neurosci
; 131(10): 962-974, 2021 Oct.
Artículo
en Inglés
| MEDLINE | ID: mdl-32352326
12.
Mutation in ALOX12B likely cause of POI and also ichthyosis in a large Iranian pedigree.
Mol Genet Genomics
; 295(4): 1039-1053, 2020 Jul.
Artículo
en Inglés
| MEDLINE | ID: mdl-32253496
13.
A mutation in DOP1B identified as a probable cause for autosomal recessive Peters anomaly in a consanguineous family.
Mol Vis
; 26: 757-765, 2020.
Artículo
en Inglés
| MEDLINE | ID: mdl-33273802
14.
The second mutation of SYCE1 gene associated with autosomal recessive nonobstructive azoospermia.
J Assist Reprod Genet
; 37(2): 451-458, 2020 Feb.
Artículo
en Inglés
| MEDLINE | ID: mdl-31916078
15.
Continuum of phenotypes in hereditary motor and sensory neuropathy with proximal predominance and Charcot-Marie-Tooth patients with TFG mutation.
Am J Med Genet A
; 179(8): 1507-1515, 2019 08.
Artículo
en Inglés
| MEDLINE | ID: mdl-31111683
16.
A novel nonsense mutation in WNK1/HSN2 associated with sensory neuropathy and limb destruction in four siblings of a large Iranian pedigree.
BMC Neurol
; 18(1): 195, 2018 Nov 29.
Artículo
en Inglés
| MEDLINE | ID: mdl-30497409
17.
A founder mutation in COQ7, p.(Leu111Pro), causes pure hereditary spastic paraplegia (HSP) in the Iranian population.
Neurol Sci
; 44(7): 2599-2602, 2023 07.
Artículo
en Inglés
| MEDLINE | ID: mdl-36854932
18.
LGMD2E is the most common type of sarcoglycanopathies in the Iranian population.
J Neurogenet
; 31(3): 161-169, 2017 09.
Artículo
en Inglés
| MEDLINE | ID: mdl-28687063
19.
Estimation of Ambulation and Survival in Neurodegeneration with Brain Iron Accumulation Disorders.
Mov Disord Clin Pract
; 11(1): 53-62, 2024 Jan.
Artículo
en Inglés
| MEDLINE | ID: mdl-38291840
20.
Identification of mutation in NPC2 by exome sequencing results in diagnosis of Niemann-Pick disease type C.
Mol Genet Metab
; 110(1-2): 139-44, 2013.
Artículo
en Inglés
| MEDLINE | ID: mdl-23791309