Detalhe da pesquisa
1.
The continuously evolving phenotype of succinic semialdehyde dehydrogenase deficiency.
J Inherit Metab Dis
; 47(3): 447-462, 2024 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-38499966
2.
Translation, reliability and validity of the Greek version of the Child Engagement in Daily Life in children with cerebral palsy.
Child Care Health Dev
; 50(1): e13202, 2024 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-37964491
3.
Prevalence of DDC genotypes in patients with aromatic L-amino acid decarboxylase (AADC) deficiency and in silico prediction of structural protein changes.
Mol Genet Metab
; 139(3): 107624, 2023 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-37348148
4.
Gene therapy for aromatic L-amino acid decarboxylase deficiency: Requirements for safe application and knowledge-generating follow-up.
J Inherit Metab Dis
; 2023 Jul 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-37402126
5.
Levodopa-refractory hyperprolactinemia and pituitary findings in inherited disorders of biogenic amine metabolism.
J Inherit Metab Dis
; 2023 Jul 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-37452721
6.
Cerebrospinal Fluid Concentrations of Neurotransmitters in a Greek Pediatric Reference Population.
Neuropediatrics
; 54(2): 126-133, 2023 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-36442788
7.
Characteristics of Café-au-lait Macules and their Association with the Neurofibromatosis type I Genotype in a Cohort of Greek Children.
Acta Derm Venereol
; 103: adv5758, 2023 06 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-37272364
8.
Structural mapping of GABRB3 variants reveals genotype-phenotype correlations.
Genet Med
; 24(3): 681-693, 2022 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-34906499
9.
The Genetic Landscape of Complex Childhood-Onset Hyperkinetic Movement Disorders.
Mov Disord
; 37(11): 2197-2209, 2022 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-36054588
10.
Mutations, Genes, and Phenotypes Related to Movement Disorders and Ataxias.
Int J Mol Sci
; 23(19)2022 Oct 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-36233161
11.
Novel Protein Biomarkers of Monoamine Metabolism Defects Correlate with Disease Severity.
Mov Disord
; 36(3): 690-703, 2021 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-33152132
12.
Delineating the neurological phenotype in children with defects in the ECHS1 or HIBCH gene.
J Inherit Metab Dis
; 44(2): 401-414, 2021 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-32677093
13.
Brain MR patterns in inherited disorders of monoamine neurotransmitters: An analysis of 70 patients.
J Inherit Metab Dis
; 44(4): 1070-1082, 2021 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-33443316
14.
Assessment of intellectual impairment, health-related quality of life, and behavioral phenotype in patients with neurotransmitter related disorders: Data from the iNTD registry.
J Inherit Metab Dis
; 44(6): 1489-1502, 2021 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-34245036
15.
AADC deficiency from infancy to adulthood: Symptoms and developmental outcome in an international cohort of 63 patients.
J Inherit Metab Dis
; 43(5): 1121-1130, 2020 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-32369189
16.
Genetic mimics of cerebral palsy.
Mov Disord
; 34(5): 625-636, 2019 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-30913345
17.
Corrigendum to: Prevalence of DDC genotypes in patients with aromatic L-amino acid decarboxylase (AADC) deficiency and in silico prediction of structural protein changes.
Mol Genet Metab
; 139(4): 107647, 2023 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-37453860
18.
Ischemic stroke in a pediatric patient with very rare coexistence of sickle-cell/ß-thalassemia and neurofibromatosis type 1.
Pediatr Blood Cancer
; : e30364, 2023 Apr 14.
Artigo
em Inglês
| MEDLINE | ID: mdl-37057739
19.
Brain and heart magnetic resonance imaging/spectroscopy in duchenne muscular dystrophy.
Eur J Clin Invest
; 47(12)2017 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-28981141
20.
Clinical rating scale for pantothenate kinase-associated neurodegeneration: A pilot study.
Mov Disord
; 32(11): 1620-1630, 2017 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-28845923