Search details
1.
The new missense G376V-TDP-43 variant induces late-onset distal myopathy but not amyotrophic lateral sclerosis.
Brain
; 2023 Dec 11.
Article
in English
| MEDLINE | ID: mdl-38079474
2.
INPP5K and SIL1 associated pathologies with overlapping clinical phenotypes converge through dysregulation of PHGDH.
Brain
; 144(8): 2427-2442, 2021 09 04.
Article
in English
| MEDLINE | ID: mdl-33792664
3.
GNE myopathy in the bedouin population of Kuwait: Genetics, prevalence, and clinical description.
Muscle Nerve
; 58(5): 700-707, 2018 11.
Article
in English
| MEDLINE | ID: mdl-30192030
4.
Hexosamine biosynthetic pathway mutations cause neuromuscular transmission defect.
Am J Hum Genet
; 88(2): 162-72, 2011 Feb 11.
Article
in English
| MEDLINE | ID: mdl-21310273
5.
Loss-of-function OGFRL1 variants identified in autosomal recessive cherubism families.
JBMR Plus
; 8(6): ziae050, 2024 Jun.
Article
in English
| MEDLINE | ID: mdl-38699440
6.
Marked Facial Weakness, Ptosis, and Hanging Jaw: A Case with RYR1 -Related Congenital Centronuclear Myopathy.
J Pediatr Genet
; 12(4): 318-324, 2023 Dec.
Article
in English
| MEDLINE | ID: mdl-38162159
7.
Duchenne Muscular Dystrophy in Kazakhstan: A Journey from Diagnosis to the Treatment, the Biases and Achievements.
J Neuromuscul Dis
; 10(2): 263-269, 2023.
Article
in English
| MEDLINE | ID: mdl-36641684
8.
Autosomal-dominant distal myopathy associated with a recurrent missense mutation in the gene encoding the nuclear matrix protein, matrin 3.
Am J Hum Genet
; 84(4): 511-8, 2009 Apr.
Article
in English
| MEDLINE | ID: mdl-19344878
9.
Distal myopathy with rimmed vacuoles and inflammation: a genetically proven case.
Neurol India
; 60(6): 631-4, 2012.
Article
in English
| MEDLINE | ID: mdl-23287327
10.
Analysis of Dp71 contribution in the severity of mental retardation through comparison of Duchenne and Becker patients differing by mutation consequences on Dp71 expression.
Hum Mol Genet
; 18(20): 3779-94, 2009 Oct 15.
Article
in English
| MEDLINE | ID: mdl-19602481
11.
Novel Homozygous Pathogenic Mutations of LAMA 2 Gene in Patients with Congen ital Muscular Dystrophy.
Iran J Child Neurol
; 15(1): 101-106, 2021.
Article
in English
| MEDLINE | ID: mdl-33558818
12.
High-Throughput Digital Image Analysis Reveals Distinct Patterns of Dystrophin Expression in Dystrophinopathy Patients.
J Neuropathol Exp Neurol
; 80(10): 955-965, 2021 10 26.
Article
in English
| MEDLINE | ID: mdl-34498054
13.
The lncRNA 44s2 Study Applicability to the Design of 45-55 Exon Skipping Therapeutic Strategy for DMD.
Biomedicines
; 9(2)2021 Feb 20.
Article
in English
| MEDLINE | ID: mdl-33672764
14.
Peripheral Nerve Society Guideline on processing and evaluation of nerve biopsies.
J Peripher Nerv Syst
; 15(3): 164-75, 2010 Sep.
Article
in English
| MEDLINE | ID: mdl-21040138
15.
Dynamin 2 mutations associated with human diseases impair clathrin-mediated receptor endocytosis.
Hum Mutat
; 30(10): 1419-27, 2009 Oct.
Article
in English
| MEDLINE | ID: mdl-19623537
16.
Spectrum of mutations in sarcoglycan genes in the Mumbai region of western India: high prevalence of 525del T.
Neurol India
; 57(4): 406-10, 2009.
Article
in English
| MEDLINE | ID: mdl-19770540
17.
Expanding the importance of HMERF titinopathy: new mutations and clinical aspects.
J Neurol
; 266(3): 680-690, 2019 Mar.
Article
in English
| MEDLINE | ID: mdl-30666435
18.
Current management of Duchenne muscular dystrophy in the Middle East: expert report.
Neurodegener Dis Manag
; 9(3): 123-133, 2019 06.
Article
in English
| MEDLINE | ID: mdl-31166138
19.
Gender as a Modifying Factor Influencing Myotonic Dystrophy Type 1 Phenotype Severity and Mortality: A Nationwide Multiple Databases Cross-Sectional Observational Study.
PLoS One
; 11(2): e0148264, 2016.
Article
in English
| MEDLINE | ID: mdl-26849574
20.
Dysferlin mutations in LGMD2B, Miyoshi myopathy, and atypical dysferlinopathies.
Hum Mutat
; 26(2): 165, 2005 Aug.
Article
in English
| MEDLINE | ID: mdl-16010686