Detalhe da pesquisa
1.
Development, validation and application of single molecule molecular inversion probe based novel integrated genetic screening method for 29 common lysosomal storage disorders in India.
Hum Genomics
; 18(1): 46, 2024 May 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-38730490
2.
KCTD7-related progressive myoclonic epilepsy: Report of 42 cases and review of literature.
Epilepsia
; 65(3): 709-724, 2024 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-38231304
3.
ARV1 Gene: A Novel Cause of Autosomal Recessive Cerebellar Ataxia with Elevated Alpha Fetoprotein.
Cerebellum
; 2023 Sep 26.
Artigo
em Inglês
| MEDLINE | ID: mdl-37749428
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.
Clinical and genetic spectrum of 104 Indian families with central nervous system white matter abnormalities.
Clin Genet
; 100(5): 542-550, 2021 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-34302356
6.
Identification of novel variants in a large cohort of children with Tay-Sachs disease: An initiative of a multicentric task force on lysosomal storage disorders by Government of India.
J Hum Genet
; 64(10): 985-994, 2019 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-31388111
7.
Spectrum of ARSA variations in Asian Indian patients with Arylsulfatase A deficient metachromatic leukodystrophy.
J Hum Genet
; 64(4): 323-331, 2019 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-30674982
8.
Identification of deletion-duplication in HEXA gene in five children with Tay-Sachs disease from India.
BMC Med Genet
; 19(1): 109, 2018 07 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-29973161
9.
Batten disease: biochemical and molecular characterization revealing novel PPT1 and TPP1 gene mutations in Indian patients.
BMC Neurol
; 18(1): 203, 2018 Dec 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-30541466
10.
The impact of DocosaHexaenoic Acid supplementation during pregnancy and lactation on Neurodevelopment of the offspring in India (DHANI): trial protocol.
BMC Pediatr
; 18(1): 261, 2018 08 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-30077178
11.
Acute Leukoencephalopathy with Restricted Diffusion.
Indian J Crit Care Med
; 22(7): 519-523, 2018 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-30111927
12.
Early-onset phenotype of bi-allelic GRN mutations.
Brain
; 144(2): e22, 2021 03 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-33351065
13.
Defining the genetic basis of early onset hereditary spastic paraplegia using whole genome sequencing.
Neurogenetics
; 17(4): 265-270, 2016 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-27679996
14.
Single Lysis-Salting Out Method of Genomic DNA Extraction From Dried Blood Spots.
J Clin Lab Anal
; 30(6): 1009-1012, 2016 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-27074880
15.
Manganese transport disorder: novel SLC30A10 mutations and early phenotypes.
Mov Disord
; 30(7): 996-1001, 2015 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-25778823
16.
Safety of lacosamide in children with refractory partial epilepsy.
Saudi Pharm J
; 23(5): 556-61, 2015 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-26594123
17.
GALNS mutations in Indian patients with mucopolysaccharidosis IVA.
Am J Med Genet A
; 164A(11): 2793-801, 2014 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-25252036
18.
ADCY5-related dyskinesia.
Neurol India
; 66(Supplement): S141-S142, 2018.
Artigo
em Inglês
| MEDLINE | ID: mdl-29503338
19.
Cerebral visual impairment and effect of phase-wise stimulation strategies-An interim analysis.
Indian J Ophthalmol
; 71(10): 3318-3321, 2023 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-37787228
20.
Hyperdense lenticulostriate sign or stroke following minor trauma.
Neurol India
; 65(2): 439, 2017.
Artigo
em Inglês
| MEDLINE | ID: mdl-28290435