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1 . Academic Journal
Management of seizures in patients with primary mitochondrial diseases: consensus statement from the InterERNs Mitochondrial Working Group.
저자
by
Mancuso, Michelangelo
;
Papadopoulou, Maria T.
;
Ng, Yi Shiau
;
Ardissone, Anna
;
Bellusci, Marcello
, et al.
소스
European Journal of Neurology
. Jul2024, Vol. 31 Issue 7, p1-11. 11p.
Open Access (Wiley)
Web of Science
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7 . Academic Journal
A natural history study of late-infantile and juvenile GM1 and GM2 gangliosidosis (PRONTO): Evaluation of different assessments
저자
by
Giugliani, Roberto
;
Harmatz, Paul
;
Héron, Bénédicte
;
Patterson, Marc
;
Schneider, Susanne
, et al.
소스
In
Molecular Genetics and Metabolism
February 2024 141(2)
Full Text (ScienceDirect)
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7 . Academic Journal
A natural history study of late-infantile and juvenile GM1 and GM2 gangliosidoses (PRONTO): Patients' and caregivers' assessments
저자
by
Giugliani, Roberto
;
Harmatz, Paul
;
Héron, Bénédicte
;
Patterson, Marc
;
Schneider, Susanne
, et al.
소스
In
Molecular Genetics and Metabolism
February 2024 141(2)
Full Text (ScienceDirect)
Web of Science
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7 . Academic Journal
A natural history study of late-infantile and juvenile GM1 and GM2 gangliosidoses (PRONTO): Baseline clinical data
저자
by
Giugliani, Roberto
;
Harmatz, Paul
;
Héron, Bénédicte
;
Patterson, Marc
;
Schneider, Susanne
, et al.
소스
In
Molecular Genetics and Metabolism
February 2024 141(2)
Full Text (ScienceDirect)
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7 . Academic Journal
Diagnosis of Duchenne Muscular Dystrophy in Italy in the last decade: Critical issues and areas for improvements
저자
by
D'Amico, Adele
;
Catteruccia, Michela
;
Baranello, Giovanni
;
Politano, Luisa
;
Govoni, Alessandra
, et al.
소스
In
Neuromuscular Disorders
May 2017 27(5):447-451
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7 . Academic Journal
A Novel Pathogenic Variant in the SCA25-Related Gene Expanding the Etiology of Early-Onset and Progressive Cerebellar Ataxia in Childhood.
저자
by
Ferrera, Giulia
;
Izzo, Rossella
;
Ghezzi, Daniele
;
Nanetti, Lorenzo
;
Lamantea, Eleonora
, et al.
소스
Neuropediatrics
. Apr2024, Vol. 55 Issue 2, p135-139. 5p.
Web of Science
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7 . Academic Journal
“Mitochondrial neuropathies”: A survey from the large cohort of the Italian Network
저자
by
Mancuso, Michelangelo
;
Orsucci, Daniele
;
Angelini, Corrado
;
Bertini, Enrico
;
Carelli, Valerio
, et al.
소스
In
Neuromuscular Disorders
April-May 2016 26(4-5):272-276
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7 . Academic Journal
Antibody Deficiency in Patients with Biallelic KARS1 Mutations.
저자
by
Saettini, Francesco
;
Guerra, Fabiola
;
Fazio, Grazia
;
Bugarin, Cristina
;
McMillan, Hugh J
, et al.
소스
Journal of Clinical Immunology
. Nov2023, Vol. 43 Issue 8, p2115-2125. 11p.
Web of Science
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7 . Academic Journal
Expert Panel Curation of 113 Primary Mitochondrial Disease Genes for the Leigh Syndrome Spectrum.
저자
by
McCormick, Elizabeth M.
;
Keller, Kierstin
;
Taylor, Julie P.
;
Coffey, Alison J.
;
Shen, Lishuang
, et al.
소스
Annals of Neurology
. Oct2023, Vol. 94 Issue 4, p696-712. 17p.
Full Text (Wiley)
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7 . Academic Journal
Novel HSPG2 Gene Mutation Causing Schwartz–Jampel Syndrome in a Moroccan Family: A Literature Review.
저자
by
Brugnoni, Raffaella
;
Marelli, Daria
;
Iacomino, Nicola
;
Canioni, Eleonora
;
Cappelletti, Cristina
, et al.
소스
Genes
. Sep2023, Vol. 14 Issue 9, p1753. 15p.
Web of Science
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