Detalhe da pesquisa
1.
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
2.
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
3.
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
4.
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
5.
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
6.
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
7.
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
8.
Tofersen: Silver Lining or Hyperbole??
Ann Indian Acad Neurol
; 26(5): 638-640, 2023.
Artigo
em Inglês
| MEDLINE | ID: mdl-38022476
9.
Uncommon Bilateral Carotid Artery Dissection in a Farmer: The Perils of Heavy Weight Lifting.
Cureus
; 15(9): e45797, 2023 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-37881378
10.
Mutation Spectrum of Primary Lipid Storage Myopathies.
Ann Indian Acad Neurol
; 25(1): 106-113, 2022.
Artigo
em Inglês
| MEDLINE | ID: mdl-35342266
11.
Late Onset Pompe Disease with Novel Mutations and Atypical Phenotypes.
J Neuromuscul Dis
; 9(2): 261-273, 2022.
Artigo
em Inglês
| MEDLINE | ID: mdl-34864681
12.
PET-MRI in idiopathic inflammatory myositis: a comparative study of clinical and immunological markers with imaging findings.
Neurol Res Pract
; 4(1): 49, 2022 Oct 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-36210472
13.
Distinct and Recognisable Muscle MRI Pattern in a Series of Adults Harbouring an Identical GMPPB Gene Mutation.
J Neuromuscul Dis
; 9(1): 95-109, 2022.
Artigo
em Inglês
| MEDLINE | ID: mdl-34633329
14.
Cognitive Dysfunction in Juvenile Myoclonic Epilepsy (JME) - A Tertiary Care Center Study.
Ann Indian Acad Neurol
; 24(1): 40-50, 2021.
Artigo
em Inglês
| MEDLINE | ID: mdl-33911378
15.
Case Report: Post-Chikungunya-Associated Myeloneuropathy.
Am J Trop Med Hyg
; 105(4): 942-945, 2021 08 23.
Artigo
em Inglês
| MEDLINE | ID: mdl-34614478
16.
Lead Encephalopathy with Distinctive Brain Magnetic Resonance Imaging Findings.
Neurol India
; 69(5): 1421-1423, 2021.
Artigo
em Inglês
| MEDLINE | ID: mdl-34747830
17.
Nemaline Rod/Cap Myopathy Due to Novel Homozygous MYPN Mutations: The First Report from South Asia and Comprehensive Literature Review.
J Clin Neurol
; 17(3): 409-418, 2021 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-34184449
18.
Recessive VAMP1 mutations associated with severe congenital myasthenic syndromes - A recognizable clinical phenotype.
Eur J Paediatr Neurol
; 31: 54-60, 2021 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-33631708
19.
Altered REM sleep architecture in patients with Myotonic dystrophy type 1: is related to sleep apnea?
Sleep Med
; 79: 48-54, 2021 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-33472130
20.
Comparison of The Carrier Frequency of Pathogenic Variants of DMD Gene in an Indian Cohort.
J Neuromuscul Dis
; 8(4): 525-535, 2021.
Artigo
em Inglês
| MEDLINE | ID: mdl-33843695