Detalhe da pesquisa
1.
Adaptor protein complex 4 deficiency: a paradigm of childhood-onset hereditary spastic paraplegia caused by defective protein trafficking.
Hum Mol Genet
; 29(2): 320-334, 2020 01 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-31915823
2.
Tay-Sachs Disease: Two Novel Rare HEXA Mutations from Pakistan and Morocco.
Klin Padiatr
; 233(5): 226-230, 2021 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-33831955
3.
Identification of common genetic markers of paroxysmal neurological disorders using a network analysis approach.
Neurol Sci
; 41(4): 851-857, 2020 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-31808001
4.
Expanding the Spectrum of AP5Z1-Related Hereditary Spastic Paraplegia (HSP-SPG48): A Multicenter Study on a Rare Disease.
Mov Disord
; 36(4): 1034-1038, 2021 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-33543803
5.
A homozygous GDAP2 loss-of-function variant in a patient with adult-onset cerebellar ataxia.
Brain
; 143(6): e49, 2020 06 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-32428220
6.
Correction: Tay-Sachs Disease: Two Novel Rare HEXA Mutations from Pakistan and Morocco.
Klin Padiatr
; 2021 May 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-33971673
7.
Aggregation-resistant alpha-synuclein tetramers are reduced in the blood of Parkinson's patients.
EMBO Mol Med
; 2024 Jun 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-38839930
8.
Some pathogenic SETX variants are partially conserved during evolution.
Gene
; 771: 145360, 2021 Mar 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-33333218
9.
Allelic and phenotypic heterogeneity in Junctophillin-3 related neurodevelopmental and movement disorders.
Eur J Hum Genet
; 29(6): 1027-1031, 2021 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-33824468
10.
SORL1 mutation in a Greek family with Parkinson's disease and dementia.
Ann Clin Transl Neurol
; 8(10): 1961-1969, 2021 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-34506082
11.
Spastic paraplegia preceding PSEN1-related familial Alzheimer's disease.
Alzheimers Dement (Amst)
; 13(1): e12186, 2021.
Artigo
em Inglês
| MEDLINE | ID: mdl-33969176
12.
Identification of UBAP1 mutations in juvenile hereditary spastic paraplegia in the 100,000 Genomes Project.
Eur J Hum Genet
; 28(12): 1763-1768, 2020 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-32934340
13.
Screening for the C9ORF72 expansion in Greek Huntington Disease phenocopies and controls and meta-analysis of current data.
Tremor Other Hyperkinet Mov (N Y)
; 10: 5, 2020 06 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-32775019
14.
Prevalence of C9orf72 hexanucleotide repeat expansion in Greek patients with sporadic ALS.
Amyotroph Lateral Scler Frontotemporal Degener
; 21(5-6): 470-472, 2020 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-32338076
15.
Rare novel CYP2U1 and ZFYVE26 variants identified in two Pakistani families with spastic paraplegia.
J Neurol Sci
; 411: 116669, 2020 Apr 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-32006740
16.
Neuronal intranuclear inclusion disease is genetically heterogeneous.
Ann Clin Transl Neurol
; 7(9): 1716-1725, 2020 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-32777174
17.
C9orf72 and its Relevance in Parkinsonism and Movement Disorders: A Comprehensive Review of the Literature.
Mov Disord Clin Pract
; 5(6): 575-585, 2018.
Artigo
em Inglês
| MEDLINE | ID: mdl-30637277
18.
Genotype-phenotype correlations and expansion of the molecular spectrum of AP4M1-related hereditary spastic paraplegia.
Orphanet J Rare Dis
; 12(1): 172, 2017 11 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-29096665