Detalhe da pesquisa
1.
The new missense G376V-TDP-43 variant induces late-onset distal myopathy but not amyotrophic lateral sclerosis.
Brain
; 2023 Dec 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-38079474
2.
Biallelic variants in HPDL cause pure and complicated hereditary spastic paraplegia.
Brain
; 144(5): 1422-1434, 2021 06 22.
Artigo
em Inglês
| MEDLINE | ID: mdl-33970200
3.
Mutations in INPP5K, Encoding a Phosphoinositide 5-Phosphatase, Cause Congenital Muscular Dystrophy with Cataracts and Mild Cognitive Impairment.
Am J Hum Genet
; 100(3): 523-536, 2017 Mar 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-28190456
4.
Association of A Novel Splice Site Mutation in P/Q-Type Calcium Channels with Childhood Epilepsy and Late-Onset Slowly Progressive Non-Episodic Cerebellar Ataxia.
Int J Mol Sci
; 21(11)2020 May 27.
Artigo
em Inglês
| MEDLINE | ID: mdl-32471306
5.
SACS variants are a relevant cause of autosomal recessive hereditary motor and sensory neuropathy.
Hum Genet
; 137(11-12): 911-919, 2018 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-30460542
6.
Erratum to: Biallelic variants in HPDL cause pure and complicated hereditary spastic paraplegia.
Brain
; 144(8): e70, 2021 09 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-34480796
7.
The genetic landscape of axonal neuropathies in the middle-aged and elderly: Focus on MME.
Neurology
; 95(24): e3163-e3179, 2020 12 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-33144514