Detalhe da pesquisa
1.
Neuromuscular disease genetics in under-represented populations: increasing data diversity.
Brain
; 146(12): 5098-5109, 2023 12 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-37516995
2.
A novel biallelic frameshift variant in C2orf69 causing developmental regression, seizures, microcephaly, autistic features, and hypertonia.
Am J Med Genet A
; 191(9): 2446-2450, 2023 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-37337918
3.
Utility of multiparametric pre-operative magnetic resonance imaging in differentiation of chordoid meningioma from the other histopathological subtypes of meningioma-a retrospective study.
Neuroradiology
; 64(2): 253-264, 2022 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-33837805
4.
Exploring immunoreactivity of TTF-1 and AVP in hypothalamic hamartoma.
Clin Neuropathol
; 41(1): 18-24, 2022.
Artigo
em Inglês
| MEDLINE | ID: mdl-34142952
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.
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
7.
Sellar atypical teratoid rhabdoid tumor in an adult: Clinical and pathological dilemmas.
Clin Neuropathol
; 40(5): 262-270, 2021.
Artigo
em Inglês
| MEDLINE | ID: mdl-34042585
8.
Case of primary dural epithelioid angiosarcoma with review of literature and differential diagnosis.
Clin Neuropathol
; 40(4): 189-194, 2021.
Artigo
em Inglês
| MEDLINE | ID: mdl-33560217
9.
Cerebral small vessel disease with hemorrhagic stroke related to COL4A1 mutation: A case report.
Neuropathology
; 40(1): 93-98, 2020 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-31808207
10.
Intracranial fungal granuloma: a single-institute study of 90 cases over 18 years.
Neurosurg Focus
; 47(2): E14, 2019 08 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-31370017
11.
Multiple Neurenteric Cysts along the Spinal Axis of an Infant: A Rare Entity.
Pediatr Neurosurg
; 54(2): 121-124, 2019.
Artigo
em Inglês
| MEDLINE | ID: mdl-30783063
12.
Surgical Management and Outcome of a Bilateral Thalamic Pilocytic Astrocytoma: Case Report and Review of the Literature.
Pediatr Neurosurg
; 54(2): 139-142, 2019.
Artigo
em Inglês
| MEDLINE | ID: mdl-30677772
13.
Spinal Intramedullary Ganglioglioma in Children: An Unusual Location of a Common Pediatric Tumor.
Pediatr Neurosurg
; 54(4): 245-252, 2019.
Artigo
em Inglês
| MEDLINE | ID: mdl-31212295
14.
LIN28A, a sensitive immunohistochemical marker for Embryonal Tumor with Multilayered Rosettes (ETMR), is also positive in a subset of Atypical Teratoid/Rhabdoid Tumor (AT/RT).
Childs Nerv Syst
; 33(11): 1953-1959, 2017 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-28744687
15.
Choroid plexus tuberculoma. Diagnosis, management and role of endoscopy.
Neurosciences (Riyadh)
; 22(3): 216-219, 2017 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-28678217
16.
Bing Neel syndrome presenting as isolated cranial nerve palsies - a case report.
eNeurologicalSci
; 35: 100505, 2024 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-38784860
17.
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
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 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-38669730
19.
Phenotype Genotype Characterization of FKRP-related Muscular Dystrophy among Indian Patients.
J Neuromuscul Dis
; 10(4): 615-626, 2023.
Artigo
em Inglês
| MEDLINE | ID: mdl-37154180
20.
TEFM variants impair mitochondrial transcription causing childhood-onset neurological disease.
Nat Commun
; 14(1): 1009, 2023 02 23.
Artigo
em Inglês
| MEDLINE | ID: mdl-36823193