Detalhe da pesquisa
1.
Clinical and genetic characterisation of a large Indian congenital myasthenic syndrome cohort.
Brain
; 147(1): 281-296, 2024 01 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-37721175
2.
Genotype-phenotype correlation and natural history study of dysferlinopathy: a single-centre experience from India.
Neurogenetics
; 24(1): 43-53, 2023 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-36580222
3.
Clinical, genetic profile and disease progression of sarcoglycanopathies in a large cohort from India: high prevalence of SGCB c.544A > C.
Neurogenetics
; 23(3): 187-202, 2022 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-35416532
4.
Disorders of Tetrahydrobiopterin Metabolism: Experience from South India.
Metab Brain Dis
; 37(3): 743-760, 2022 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-34997870
5.
A founder mutation in the GMPPB gene [c.1000G > A (p.Asp334Asn)] causes a mild form of limb-girdle muscular dystrophy/congenital myasthenic syndrome (LGMD/CMS) in South Indian patients.
Neurogenetics
; 22(4): 271-285, 2021 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-34333724
6.
Megaconial congenital muscular dystrophy secondary to novel CHKB mutations resemble atypical Rett syndrome.
J Hum Genet
; 66(8): 813-823, 2021 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-33712684
7.
Whole-exome analyses of congenital muscular dystrophy and congenital myopathy patients from India reveal a wide spectrum of known and novel mutations.
Eur J Neurol
; 28(3): 992-1003, 2021 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-33124102
8.
Study of familial aggregation of autoimmune rheumatic diseases in Asian Indian patients with systemic lupus erythematosus.
Rheumatol Int
; 39(12): 2053-2060, 2019 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-31263994
9.
Correction: Megaconial congenital muscular dystrophy secondary to novel CHKB mutations resemble atypical Rett syndrome.
J Hum Genet
; 66(8): 841, 2021 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-33767318
10.
Reversible leukoencephalopathy and cerebral atrophy in homocystinuria due to MTHFR deficiency: A treatable metabolic disorder.
J Inherit Metab Dis
; 44(6): 1505-1506, 2021 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-34541688
11.
Beta Propellar Protein-Associated Neurodegeneration: A Rare Cause of Infantile Autistic Regression and Intracranial Calcification.
Neuropediatrics
; 47(2): 123-7, 2016 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-26859818
12.
Investigation of mutation spectrum amongst patients with familial primary cardiomyopathy using targeted NGS in Indian population.
J Appl Genet
; 2024 Mar 29.
Artigo
em Inglês
| MEDLINE | ID: mdl-38551768
13.
Generation of induced pluripotent stem cell line, NIMHi009-A, from PBMCs of an adult healthy male.
Stem Cell Res
; 76: 103349, 2024 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-38368738
14.
A novel DHTKD1 gene mutation with ALS like presentation: a case report.
Amyotroph Lateral Scler Frontotemporal Degener
; 25(3-4): 413-415, 2024 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-37880984
15.
Generation of induced pluripotent stem cell line NIMHi010-A from dermal fibroblast cells of a healthy individual.
Stem Cell Res
; 76: 103355, 2024 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-38412659
16.
Childhood-Onset Myopathy With Preserved Ambulation Caused by a Recurrent ADSSL1 Missense Variant.
Neurol Genet
; 10(1): e200122, 2024 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-38229919
17.
Myotonic Dystrophy Type 1 (DM1): Clinical Characteristics and Disease Progression in a Large Cohort.
Neurol India
; 72(1): 83-89, 2024 Jan 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-38443007
18.
Partial loss of desmin expression due to a leaky splice site variant in the human DES gene is associated with neuromuscular transmission defects.
Neuromuscul Disord
; 39: 10-18, 2024 Mar 22.
Artigo
em Inglês
| MEDLINE | ID: mdl-38669730
19.
Response to Steroids in IQSEC2-Related Encephalopathy Presenting with Rett-Like Phenotype and Infantile Spasms.
J Pediatr Genet
; 12(1): 76-80, 2023 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-36684544
20.
Clustering of Juvenile Canavan disease in an Indian community due to population bottleneck and isolation: genomic signatures of a founder event.
Eur J Hum Genet
; 31(1): 73-80, 2023 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-36202930