Detalhe da pesquisa
1.
Genetic evidence for splicing-dependent structural and functional plasticity in CASK protein.
J Med Genet
; 2024 Apr 26.
Artigo
em Inglês
| MEDLINE | ID: mdl-38670634
2.
Consensus guidelines for the monitoring and management of metachromatic leukodystrophy in the United States.
Cytotherapy
; 2024 Apr 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-38613540
3.
SMN regulates GEMIN5 expression and acts as a modifier of GEMIN5-mediated neurodegeneration.
Acta Neuropathol
; 146(3): 477-498, 2023 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-37369805
4.
Genetic variation in genes of inborn errors of immunity in children with unexplained encephalitis.
Genes Immun
; 23(7): 235-239, 2022 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-36198812
5.
Adults with Cerebral Palsy Require Ongoing Neurologic Care: A Systematic Review.
Ann Neurol
; 89(5): 860-871, 2021 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-33550625
6.
Further delineation of GEMIN4 related neurodevelopmental disorder with microcephaly, cataract, and renal abnormalities syndrome.
Am J Med Genet A
; 188(10): 2932-2940, 2022 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-35861185
7.
Evolving therapies in neuronopathic LSDs: opportunities and challenges.
Metab Brain Dis
; 37(7): 2245-2256, 2022 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-35442005
8.
Autism and developmental disability caused by KCNQ3 gain-of-function variants.
Ann Neurol
; 86(2): 181-192, 2019 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-31177578
9.
Olfactory bulb and olfactory tract abnormalities in acrocallosal syndrome and Greig cephalopolysyndactyly syndrome.
Pediatr Radiol
; 49(10): 1368-1373, 2019 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-31399769
10.
Mutations of GEMIN5 are associated with coenzyme Q10 deficiency: long-term follow-up after treatment.
Eur J Hum Genet
; 32(4): 426-434, 2024 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-38316953
11.
Molecular and Phenotypic Characterization of the RORB-Related Disorder.
Neurology
; 102(2): e207945, 2024 01 23.
Artigo
em Inglês
| MEDLINE | ID: mdl-38165337
12.
Studying Habituation in Stentor coeruleus.
J Vis Exp
; (191)2023 01 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-36688564
13.
Single-cell analysis of habituation in Stentor coeruleus.
Curr Biol
; 33(2): 241-251.e4, 2023 01 23.
Artigo
em Inglês
| MEDLINE | ID: mdl-36435177
14.
Functional and structural deficiencies of Gemin5 variants associated with neurological disorders.
Life Sci Alliance
; 5(7)2022 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-35393353
15.
Autosomal Recessive Cerebellar Atrophy and Spastic Ataxia in Patients With Pathogenic Biallelic Variants in GEMIN5.
Front Cell Dev Biol
; 10: 783762, 2022.
Artigo
em Inglês
| MEDLINE | ID: mdl-35295849
16.
Educational Utility of Social Media for Laparoscopic Surgery in India: A Cross-Sectional Survey of Popular Indian Communities on Facebook.
Adv Med Educ Pract
; 12: 491-498, 2021.
Artigo
em Inglês
| MEDLINE | ID: mdl-34012313
17.
Loss of function mutations in GEMIN5 cause a neurodevelopmental disorder.
Nat Commun
; 12(1): 2558, 2021 05 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-33963192
18.
Is performing sacrospinous fixation with vaginal hysterectomy and McCall's culdoplasty for advanced uterovaginal prolapse preferable over McCall's culdoplasty alone?
J Obstet Gynaecol India
; 70(1): 57-63, 2020 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-32030007
19.
Survival of a male patient harboring CASK Arg27Ter mutation to adolescence.
Mol Genet Genomic Med
; 8(10): e1426, 2020 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-32696595
20.
Images in clinical medicine. Allen's test.
N Engl J Med
; 363(14): e20, 2010 Sep 30.
Artigo
em Inglês
| MEDLINE | ID: mdl-20886676