Search details
1.
De Novo and Dominantly Inherited SPTAN1 Mutations Cause Spastic Paraplegia and Cerebellar Ataxia.
Mov Disord
; 37(6): 1175-1186, 2022 06.
Article
in English
| MEDLINE | ID: mdl-35150594
2.
RFC1 repeat expansions: A recurrent cause of sensory and autonomic neuropathy with cough and ataxia.
Eur J Neurol
; 29(7): 2156-2161, 2022 07.
Article
in English
| MEDLINE | ID: mdl-35253317
3.
Biallelic variants in HPDL cause pure and complicated hereditary spastic paraplegia.
Brain
; 144(5): 1422-1434, 2021 06 22.
Article
in English
| MEDLINE | ID: mdl-33970200
4.
Autochthonous Cases of Tick-Borne Encephalitis, Belgium, 2020.
Emerg Infect Dis
; 27(8): 2179-2182, 2021 08.
Article
in English
| MEDLINE | ID: mdl-34111382
5.
A Recurrent KPNA3 Missense Variant Causing Infantile Pure Spastic Paraplegia.
Ann Neurol
; 91(2): 298-299, 2022 02.
Article
in English
| MEDLINE | ID: mdl-34981581
6.
PCYT2 mutations disrupting etherlipid biosynthesis: phenotypes converging on the CDP-ethanolamine pathway.
Brain
; 144(2): e17, 2021 03 03.
Article
in English
| MEDLINE | ID: mdl-33230519
7.
Erratum to: Biallelic variants in HPDL cause pure and complicated hereditary spastic paraplegia.
Brain
; 144(8): e70, 2021 09 04.
Article
in English
| MEDLINE | ID: mdl-34480796
8.
Overarching pathomechanisms in inherited peripheral neuropathies, spastic paraplegias, and cerebellar ataxias.
Trends Neurosci
; 47(3): 227-238, 2024 03.
Article
in English
| MEDLINE | ID: mdl-38360512
9.
Distinct features in adult polyglucosan body disease: a case series.
Neuromuscul Disord
; 33(2): 148-152, 2023 02.
Article
in English
| MEDLINE | ID: mdl-36628840
10.
Commentary: SPTBN5, encoding the ßV-spectrin protein, leads to a syndrome of intellectual disability, developmental delay, and seizures.
Front Mol Neurosci
; 15: 1017684, 2022.
Article
in English
| MEDLINE | ID: mdl-36238261
Results
1 -
10
de 10
1
Next >
>>