Detalhe da pesquisa
1.
ABHD16A deficiency causes a complicated form of hereditary spastic paraplegia associated with intellectual disability and cerebral anomalies.
Am J Hum Genet;
108(10): 2017-2023, 2021 10 07.
Artigo
em Inglês
| MEDLINE
| ID: mdl-34587489
2.
Case Report: Two Families With HPDL Related Neurodegeneration.
Front Genet;
13: 780764, 2022.
Artigo
em Inglês
| MEDLINE
| ID: mdl-35222531
3.
A Homozygous Deep Intronic Mutation Alters the Splicing of Nebulin Gene in a Patient With Nemaline Myopathy.
Front Neurol;
12: 660113, 2021.
Artigo
em Inglês
| MEDLINE
| ID: mdl-34211429
4.
A founder mutation in the PLPBP gene in families from Saguenay-Lac-St-Jean region affected by a pyridoxine-dependent epilepsy.
JIMD Rep;
59(1): 32-41, 2021 May.
Artigo
em Inglês
| MEDLINE
| ID: mdl-33977028