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.
Transthyretin (Pro24Ser) variant amyloidosis: A case report of the first patient in Greece.
Hell J Nucl Med
; 26(2): 145-149, 2023.
Artigo
em Inglês
| MEDLINE | ID: mdl-37610765
4.
Structural and functional brain changes in X-linked Charcot-Marie-Tooth disease: insights from a multimodal neuroimaging study.
Neuroradiology
; 64(3): 543-552, 2022 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-34498107
5.
Biallelic RFC1 pentanucleotide repeat expansions in Greek patients with late-onset ataxia.
Clin Genet
; 100(1): 90-94, 2021 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-33745133
6.
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
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.
Prognostic value of T786C and G894T eNOS polymorphisms in sickle cell disease.
Nitric Oxide
; 62: 17-23, 2017 Jan 30.
Artigo
em Inglês
| MEDLINE | ID: mdl-27871907
9.
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
10.
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
11.
Data on eNOS T786 and G894T polymorphisms and peripheral blood eNOS mRNA levels in Sickle Cell Disease.
Data Brief
; 10: 192-197, 2017 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-27995153