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1 . Academic Journal
Aromatic L-Amino Acid Decarboxylase Deficiency: A Genetic Screening in Sicilian Patients with Neurological Disorders
저자
by
Sandro Santa Paola
;
Francesco Domenico Di Blasi
;
Eugenia Borgione
;
Mariangela Lo Giudice
;
Marika Giuliano
, et al.
소스
Genes, Vol 15, Iss 1, p 134 (2024)
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7 . Academic Journal
The Y831C Mutation of the POLG Gene in Dementia
저자
by
Eugenia Borgione
;
Mariangela Lo Giudice
;
Sandro Santa Paola
;
Marika Giuliano
;
Giuseppe Lanza
, et al.
소스
Biomedicines, Vol 11, Iss 4, p 1172 (2023)
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7 . Academic Journal
The Mitochondrial tRNASer(UCN) Gene: A Novel m.7484A>G Mutation Associated with Mitochondrial Encephalomyopathy and Literature Review
저자
by
Eugenia Borgione
;
Mariangela Lo Giudice
;
Sandro Santa Paola
;
Marika Giuliano
;
Francesco Domenico Di Blasi
, et al.
소스
Life, Vol 13, Iss 2, p 554 (2023)
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7 . Academic Journal
Identification of a Novel Missense Mutation of POLR3A Gene in a Cohort of Sicilian Patients with Leukodystrophy
저자
by
Antonino Musumeci
;
Francesco Calì
;
Carmela Scuderi
;
Mirella Vinci
;
Girolamo Aurelio Vitello
, et al.
소스
Biomedicines, Vol 10, Iss 9, p 2276 (2022)
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7 . Academic Journal
The Genetic Landscape of Dystrophin Mutations in Italy: A Nationwide Study
저자
by
Marcella Neri
;
Rachele Rossi
;
Cecilia Trabanelli
;
Antonio Mauro
;
Rita Selvatici
, et al.
소스
Frontiers in Genetics, Vol 11 (2020)
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7 .
A homozygous MED11 C-terminal variant causes a lethal neurodegenerative disease
저자
by
Elisa Calì
;
Sheng-Jia Lin
;
Clarissa Rocca
;
Yavuz Sahin
;
Aisha Al Shamsi
, et al.
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7 .
Mitochondrial DNA involvement in patients with autism spectrum disorders and intellectual disability
저자
by
Carmela Scuderi
;
Sandro Santa Paola
;
Mariangela Lo Giudice
;
Francesco Domenico Di Blasi
;
Stefania Giusto
, et al.
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7 .
Inhibition of G-protein signalling in cardiac dysfunction of intellectual developmental disorder with cardiac arrhythmia (IDDCA) syndrome
저자
by
De Nittis P.
;
Efthymiou S.
;
Sarre A.
;
Guex N.
;
Chrast J.
, et al.
소스
Dipòsit Digital de la UB
Universidad de Barcelona
Journal of Medical Genetics
Journal of Medical Genetics, BMJ Publishing Group, In press, ⟨10.1136/jmedgenet-2020-107015⟩
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7 .
A novel SLC1A4 homozygous mutation causing congenital microcephaly, epileptic encephalopathy and spastic tetraparesis: a video-EEG and tractography – case study
저자
by
Henry Houlden
;
Stephanie Efthymiou
;
Vincenzo Salpietro
;
Antonella Gagliano
;
Enricomaria Mormina
, et al.
소스
Journal of Neurogenetics
. 32:316-321
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7 .
Human patient SFPQ homozygous mutation is found deleterious for brain and motor development in a zebrafish model
저자
by
Henry Houlden
;
Stephanie Efthymiou
;
Corinne Houart
;
Eugenia Borgione
;
Vincenzo Salpietro
, et al.
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