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.
Clinical spectrum, biochemical profile and disease progression of Kennedy disease in an Indian cohort.
Intern Med J
; 54(3): 455-460, 2024 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-37578398
3.
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
4.
High diagnostic rate of trio exome sequencing in consanguineous families with neurogenetic diseases.
Brain
; 145(4): 1507-1518, 2022 05 24.
Artigo
em Inglês
| MEDLINE | ID: mdl-34791078
5.
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
6.
Congenital myasthenic syndrome: Correlation between clinical features and molecular diagnosis.
Eur J Neurol
; 29(3): 833-842, 2022 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-34749429
7.
Novel TBK1 variant associated with Frontotemporal Dementia overlap syndrome.
Acta Neurol Scand
; 145(4): 399-406, 2022 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-34841512
8.
Muscle ultrasonography in detecting fasciculations: A noninvasive diagnostic tool for amyotrophic lateral sclerosis.
J Clin Ultrasound
; 50(2): 286-291, 2022 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-34653263
9.
Diaphragmatic ultrasound: Prospects as a tool to assess respiratory muscle involvement in amyotrophic lateral sclerosis.
J Clin Ultrasound
; 50(1): 131-135, 2022 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-34609007
10.
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
11.
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
12.
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
13.
Novel variants broaden the phenotypic spectrum of PLEKHG5-associated neuropathies.
Eur J Neurol
; 28(4): 1344-1355, 2021 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-33220101
14.
Palliative Care in Duchenne Muscular Dystrophy: A Study on Parents' Understanding.
Indian J Palliat Care
; 27(1): 146-151, 2021.
Artigo
em Inglês
| MEDLINE | ID: mdl-34035633
15.
Chitotriosidase, a biomarker of amyotrophic lateral sclerosis, accentuates neurodegeneration in spinal motor neurons through neuroinflammation.
J Neuroinflammation
; 17(1): 232, 2020 Aug 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-32762702
16.
Lived Experience of Spouses of Persons with Motor Neuron Disease: Preliminary Findings through Interpretative Phenomenological Analysis.
Indian J Palliat Care
; 26(1): 60-65, 2020.
Artigo
em Inglês
| MEDLINE | ID: mdl-32132786
17.
Increasing phenotypic annotation improves the diagnostic rate of exome sequencing in a rare neuromuscular disorder.
Hum Mutat
; 40(10): 1797-1812, 2019 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-31231902
18.
Family Caregivers' Experiences with Dying and Bereavement of Individuals with Motor Neuron Disease in India.
J Soc Work End Life Palliat Care
; 15(2-3): 111-125, 2019.
Artigo
em Inglês
| MEDLINE | ID: mdl-31373263
19.
Recessive variants of MuSK are associated with late onset CMS and predominant limb girdle weakness.
Am J Med Genet A
; 176(7): 1594-1601, 2018 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-29704306
20.
Hirayama disease/cervical flexion-induced myelopathy progressing to spastic paraparesis: A report on three cases with literature review.
Neurol India
; 66(4): 1094-1099, 2018.
Artigo
em Inglês
| MEDLINE | ID: mdl-30038100