Detalhe da pesquisa
1.
De novo variants in POLR3B cause ataxia, spasticity, and demyelinating neuropathy.
Am J Hum Genet
; 108(1): 186-193, 2021 01 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-33417887
2.
De novo variants in POLR3B cause ataxia, spasticity, and demyelinating neuropathy.
Am J Hum Genet
; 109(4): 759-763, 2022 Apr 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-35395209
3.
Effects of Self-Selected Exercise on Strength in Charcot-Marie-Tooth Disease Subtypes.
Can J Neurol Sci
; 44(5): 572-576, 2017 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-28669366
4.
A novel deep intronic variant in LAMA2 identified by RNA sequencing.
Neuromuscul Disord
; 39: 19-23, 2024 Apr 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-38691940
5.
Ethical challenges and opportunities in the development and approval of novel therapeutics for rare diseases.
J Med Access
; 7: 27550834231177507, 2023.
Artigo
em Inglês
| MEDLINE | ID: mdl-37323852
6.
Understanding caregiver experiences with disease-modifying therapies for spinal muscular atrophy: a qualitative study.
Arch Dis Child
; 108(11): 929-934, 2023 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-37419673
7.
Utility of metabolic screening in neurological presentations of infancy.
Ann Clin Transl Neurol
; 7(7): 1132-1140, 2020 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-32495504
8.
Two novel mitochondrial tRNA mutations, A7495G (tRNASer(UCN)) and C5577T (tRNATrp), are associated with seizures and cardiac dysfunction.
Mitochondrion
; 31: 40-44, 2016 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-27693765