Detalhe da pesquisa
1.
The FGF14 GAA repeat expansion in Greek patients with late-onset cerebellar ataxia and an overview of the SCA27B phenotype across populations.
Clin Genet
; 105(4): 446-452, 2024 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-38221848
2.
Mutational screening of Greek patients with axonal Charcot-Marie-Tooth disease using targeted next-generation sequencing: Clinical and molecular spectrum delineation.
J Peripher Nerv Syst
; 28(4): 642-650, 2023 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-37747677
3.
A Greek National Cross-Sectional Study on Myotonic Dystrophies.
Int J Mol Sci
; 23(24)2022 Dec 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-36555146
4.
HINT1-related neuropathy in Greek patients with Charcot-Marie-Tooth disease.
J Peripher Nerv Syst
; 26(4): 444-448, 2021 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-34694653
5.
Evidence for Cognitive Deficits in X-Linked Charcot-Marie-Tooth Disease.
J Int Neuropsychol Soc
; 26(3): 294-302, 2020 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-31948496
6.
X linked Charcot-Marie-Tooth disease and multiple sclerosis: emerging evidence for an association.
J Neurol Neurosurg Psychiatry
; 90(2): 187-194, 2019 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-30196252
7.
Mutational screening of the SH3TC2 gene in Greek patients with suspected demyelinating recessive Charcot-Marie-Tooth disease reveals a varied and unusual phenotypic spectrum.
J Peripher Nerv Syst
; 24(1): 125-130, 2019 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-30653784
8.
Replication study of GWAS risk loci in Greek multiple sclerosis patients.
Neurol Sci
; 40(2): 253-260, 2019 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-30361804
9.
DNA repair pathways underlie a common genetic mechanism modulating onset in polyglutamine diseases.
Ann Neurol
; 79(6): 983-90, 2016 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-27044000
10.
Mutational analysis of Greek patients with suspected hereditary neuropathy with liability to pressure palsies (HNPP): a 15-year experience.
J Peripher Nerv Syst
; 20(2): 79-85, 2015 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-26110377
11.
Screening for the FMR1 premutation in Greek patients with late-onset movement disorders.
Parkinsonism Relat Disord
; 107: 105253, 2023 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-36549234
12.
Expanding the spectrum of C9ORF72-related neurodegenerative disorders in the Greek population.
J Neurol Sci
; 442: 120450, 2022 11 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-36252286
13.
Variant transthyretin amyloidosis (ATTRv) polyneuropathy in Greece: a broad overview with a focus on non-endemic unexplored regions of the country.
Neuromuscul Disord
; 31(12): 1251-1258, 2021 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-34740514
14.
Symptomatic striopallidodentate calcinosis (Fahr's syndrome) in a thalassemic patient with hypoparathyroidism.
Ann Hematol
; 94(5): 897-9, 2015 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-25377047
15.
Neuroendocrine evidence of normal hypothalamus-pituitary dopaminergic function in Huntington's disease.
Neuro Endocrinol Lett
; 31(3): 359-62, 2010.
Artigo
em Inglês
| MEDLINE | ID: mdl-20588235
16.
Elevated Serum α-Synuclein Levels in Huntington's Disease Patients.
Neuroscience
; 431: 34-39, 2020 04 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-32045629
17.
Plasma homovanillic acid and prolactin in Huntington's disease.
Neurochem Res
; 34(5): 917-22, 2009 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-18841471
18.
Low plasma total cholesterol in patients with Huntington's disease and first-degree relatives.
Mol Genet Metab
; 93(3): 341-6, 2008 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-18006350
19.
Effect of CAG repeat length on psychiatric disorders in Huntington's disease.
J Psychiatr Res
; 42(7): 544-9, 2008 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-17610899
20.
Novel peripheral myelin protein 22 (PMP22) micromutations associated with variable phenotypes in Greek patients with Charcot-Marie-Tooth disease.
Brain
; 135(Pt 8): e217, 1-6; author reply e218, 1-2, 2012 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-22382358