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1 . Academic Journal
Prevalence of DDC genotypes in patients with aromatic L-amino acid decarboxylase (AADC) deficiency and in silico prediction of structural protein changes
저자
by
Himmelreich, Nastassja
;
Bertoldi, Mariarita
;
Alfadhel, Majid
;
Alghamdi, Malak Ali
;
Anikster, Yair
, et al.
소스
In
Molecular Genetics and Metabolism
July 2023 139(3)
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7 . Academic Journal
Further clinical and genetic evidence of ASC-1 complex dysfunction in congenital neuromuscular disease
저자
by
Marais, Anett
;
Bertoli-Avella, Aida M.
;
Beetz, Christian
;
Altunoglu, Umut
;
Alhashem, Amal
, et al.
소스
In
European Journal of Medical Genetics
August 2022 65(8)
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7 . Academic Journal
Dystonia assessment in children with cerebral palsy and periventricular leukomalacia
저자
by
Papadimitriou, Ioanna
;
Dalivigka, Zoi
;
Outsika, Chrysa
;
Scarmeas, Nikolaos
;
Pons, Roser
.
소스
In
European Journal of Paediatric Neurology
May 2021 32:8-15
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7 . Academic Journal
Parkinsonism in children: Clinical classification and etiological spectrum
저자
by
Leuzzi, Vincenzo
;
Nardecchia, Francesca
;
Pons, Roser
;
Galosi, Serena
.
소스
In
Parkinsonism and Related Disorders
January 2021 82:150-157
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6 . Academic Journal
Delineating the motor phenotype of SGCE-myoclonus dystonia syndrome
저자
by
Vanegas, Maria I.
;
Marcé-Grau, Anna
;
Martí-Sánchez, Laura
;
Mellid, Sara
;
Baide-Mairena, Heidy
, et al.
소스
In
Parkinsonism and Related Disorders
November 2020 80:165-174
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7 . Academic Journal
The genetic etiology in cerebral palsy mimics: The results from a Greek tertiary care center
저자
by
Zouvelou, Vasiliki
;
Yubero, Delia
;
Apostolakopoulou, Loukia
;
Kokkinou, Eleftheria
;
Bilanakis, Manolis
, et al.
소스
In
European Journal of Paediatric Neurology
May 2019 23(3):427-437
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7 . Academic Journal
Myotonia congenita in a Greek cohort: Genotype spectrum and impact of the CLCN1:c.501C > G variant as a genetic modifier.
저자
by
Marinakis, Nikolaos M.
;
Svingou, Maria
;
Papadimas, Giorgos‐Konstantinos
;
Papadopoulos, Constantinos
;
Chroni, Elisabeth
, et al.
소스
Muscle & Nerve
. Aug2024, Vol. 70 Issue 2, p240-247. 8p.
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7 . Academic Journal
Sleep architecture and epileptic characteristics of drug naïve patients in childhood absence epilepsy spectrum. A prospective study
저자
by
Dinopoulos, Argirios
;
Tsirouda, Maria A.
;
Bonakis, Anastasios
;
Pons, Roser
;
Pavlopoulou, Ioanna D.
, et al.
소스
In
Seizure: European Journal of Epilepsy
July 2018 59:99-107
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7 . Academic Journal
ADCY5-related movement disorders: Frequency, disease course and phenotypic variability in a cohort of paediatric patients
저자
by
Carecchio, Miryam
;
Mencacci, Niccolò E.
;
Iodice, Alessandro
;
Pons, Roser
;
Panteghini, Celeste
, et al.
소스
In
Parkinsonism and Related Disorders
August 2017 41:37-43
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7 . Academic Journal
SCN1A Channels a Wide Range of Epileptic Phenotypes: Report of Novel and Known Variants with Variable Presentations.
저자
by
Veltra, Danai
;
Theodorou, Virginia
;
Katsalouli, Marina
;
Vorgia, Pelagia
;
Niotakis, Georgios
, et al.
소스
International Journal of Molecular Sciences
. Jun2024, Vol. 25 Issue 11, p5644. 18p.
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