Detalhe da pesquisa
1.
Bi-allelic LETM1 variants perturb mitochondrial ion homeostasis leading to a clinical spectrum with predominant nervous system involvement.
Am J Hum Genet
; 109(9): 1692-1712, 2022 09 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-36055214
2.
TMX2 Is a Crucial Regulator of Cellular Redox State, and Its Dysfunction Causes Severe Brain Developmental Abnormalities.
Am J Hum Genet
; 105(6): 1126-1147, 2019 12 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-31735293
3.
Biallelic and monoallelic variants in PLXNA1 are implicated in a novel neurodevelopmental disorder with variable cerebral and eye anomalies.
Genet Med
; 23(9): 1715-1725, 2021 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-34054129
4.
Tay-Sachs Disease: Two Novel Rare HEXA Mutations from Pakistan and Morocco.
Klin Padiatr
; 233(5): 226-230, 2021 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-33831955
5.
Correction: Tay-Sachs Disease: Two Novel Rare HEXA Mutations from Pakistan and Morocco.
Klin Padiatr
; 2021 May 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-33971673
6.
Whole exome sequencing identifies variable expressivity of CLN6 variants in Progressive myoclonic epilepsy affected families.
Epilepsy Res
; 201: 107283, 2024 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-38382230
7.
Clinical and genetic characterization of congenital lipoid adrenal hyperplasia.
Clin Dysmorphol
; 29(4): 173-176, 2020 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-32858544
8.
Sequence variants in three genes underlying leukodystrophy in Pakistani families.
Int J Dev Neurosci
; 80(5): 380-388, 2020 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-32403196
9.
Rare novel CYP2U1 and ZFYVE26 variants identified in two Pakistani families with spastic paraplegia.
J Neurol Sci
; 411: 116669, 2020 Apr 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-32006740
10.
Neuronal intranuclear inclusion disease is genetically heterogeneous.
Ann Clin Transl Neurol
; 7(9): 1716-1725, 2020 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-32777174
11.
Genotype-Phenotype Correlations in Charcot-Marie-Tooth Disease Due to MTMR2 Mutations and Implications in Membrane Trafficking.
Front Neurosci
; 13: 974, 2019.
Artigo
em Inglês
| MEDLINE | ID: mdl-31680794