Detalhe da pesquisa
1.
Inheritance of c.628-6G>A GNB5 hypomorphic allele uncovers another challenge in the pathogenic prediction of genomic variants.
Clin Genet
; 105(3): 340-342, 2024 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-37994112
2.
Mitochondria-lysosome membrane contacts are defective in GDAP1-related Charcot-Marie-Tooth disease.
Hum Mol Genet
; 29(22): 3589-3605, 2021 01 21.
Artigo
em Inglês
| MEDLINE | ID: mdl-33372681
3.
Effective therapeutic strategies in a preclinical mouse model of Charcot-Marie-Tooth disease.
Hum Mol Genet
; 30(24): 2441-2455, 2021 11 30.
Artigo
em Inglês
| MEDLINE | ID: mdl-34274972
4.
Variants in DTNA cause a mild, dominantly inherited muscular dystrophy.
Acta Neuropathol
; 145(4): 479-496, 2023 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-36799992
5.
Heterozygous variants in ZBTB7A cause a neurodevelopmental disorder associated with symptomatic overgrowth of pharyngeal lymphoid tissue, macrocephaly, and elevated fetal hemoglobin.
Am J Med Genet A
; 188(1): 272-282, 2022 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-34515416
6.
Mitochondria and calcium defects correlate with axonal dysfunction in GDAP1-related Charcot-Marie-Tooth mouse model.
Neurobiol Dis
; 152: 105300, 2021 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-33582224
7.
The Increasing Impact of Translational Research in the Molecular Diagnostics of Neuromuscular Diseases.
Int J Mol Sci
; 22(8)2021 Apr 20.
Artigo
em Inglês
| MEDLINE | ID: mdl-33924139
8.
Ankyrin Repeat and Kinase Domain Containing 1 Gene, and Addiction Vulnerability.
Int J Mol Sci
; 21(7)2020 Apr 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-32260442
9.
A Novel AIFM1-Related Disorder Phenotype Treated with Deep Brain Stimulation.
Mov Disord
; 39(1): 215-217, 2024 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-37787095
10.
CHRNG-related nonlethal multiple pterygium syndrome: Muscle imaging pattern and clinical, histopathological, and molecular genetic findings.
Am J Med Genet A
; 179(6): 915-926, 2019 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-30868735
11.
The Addiction-Related Protein ANKK1 is Differentially Expressed During the Cell Cycle in Neural Precursors.
Cereb Cortex
; 27(5): 2809-2819, 2017 05 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-27166167
12.
Targeting, endocytosis, and lysosomal delivery of active enzymes to model human neurons by ICAM-1-targeted nanocarriers.
Pharm Res
; 32(4): 1264-78, 2015 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-25319100
13.
Improving Diagnostic Precision: Phenotype-Driven Analysis Uncovers a Maternal Mosaicism in an Individual with RYR1-Congenital Myopathy.
J Neuromuscul Dis
; 11(3): 647-653, 2024.
Artigo
em Inglês
| MEDLINE | ID: mdl-38489196
14.
Differential effects of Mendelian GDAP1 clinical variants on mitochondria-lysosome membrane contacts sites.
Biol Open
; 12(4)2023 04 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-36912213
15.
Common pathophysiology for ANXA11 disorders caused by aspartate 40 variants.
Ann Clin Transl Neurol
; 10(3): 408-425, 2023 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-36651622
16.
Non-Motor Symptoms in PLA2G6-Associated Dystonia-Parkinsonism: A Case Report and Literature Review.
J Clin Med
; 11(6)2022 Mar 13.
Artigo
em Inglês
| MEDLINE | ID: mdl-35329915
17.
Mitochondrial Dynamics and Mitochondria-Lysosome Contacts in Neurogenetic Diseases.
Front Neurosci
; 16: 784880, 2022.
Artigo
em Inglês
| MEDLINE | ID: mdl-35177962
18.
The p.Glu787Lys variant in the GRIA3 gene causes developmental and epileptic encephalopathy mimicking structural epilepsy in a female patient.
Eur J Med Genet
; 65(3): 104442, 2022 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-35093607
19.
PLXNA2 and LRRC40 as candidate genes in autism spectrum disorder.
Autism Res
; 14(6): 1088-1100, 2021 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-33749153
20.
Decoding Neuromuscular Disorders Using Phenotypic Clusters Obtained From Co-Occurrence Networks.
Front Mol Biosci
; 8: 635074, 2021.
Artigo
em Inglês
| MEDLINE | ID: mdl-34046427