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1 . Academic Journal
Digital health and Clinical Patient Management System (CPMS) platform utility for data sharing of neuromuscular patients: the Italian EURO-NMD experience
저자
by
Fernanda Fortunato
;
Francesca Bianchi
;
Giulia Ricci
;
Francesca Torri
;
Francesca Gualandi
, et al.
소스
Orphanet Journal of Rare Diseases, Vol 18, Iss 1, Pp 1-7 (2023)
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7 . Academic Journal
Dermatologic Effects of Selumetinib in Pediatric Patients with Neurofibromatosis Type 1: Clinical Challenges and Therapeutic Management
저자
by
Paola Borgia
;
Gianluca Piccolo
;
Andrea Santangelo
;
Cristina Chelleri
;
Gianmaria Viglizzo
, et al.
소스
Journal of Clinical Medicine, Vol 13, Iss 6, p 1792 (2024)
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7 . Academic Journal
Hyperkinetic stereotyped movements in a boy with biallelic CNTNAP2 variants
저자
by
Marcello Scala
;
Midas Anijs
;
Roberta Battini
;
Francesca Madia
;
Valeria Capra
, et al.
소스
Italian Journal of Pediatrics, Vol 47, Iss 1, Pp 1-5 (2021)
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7 . Academic Journal
Targeted re-sequencing for early diagnosis of genetic causes of childhood epilepsy: the Italian experience from the ‘beyond epilepsy’ project
저자
by
Elisabetta Amadori
;
Marcello Scala
;
Giulia Sofia Cereda
;
Maria Stella Vari
;
Francesca Marchese
, et al.
소스
Italian Journal of Pediatrics, Vol 46, Iss 1, Pp 1-9 (2020)
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7 . Academic Journal
New Trends and Most Promising Therapeutic Strategies for Epilepsy Treatment
저자
by
Antonella Riva
;
Alice Golda
;
Ganna Balagura
;
Elisabetta Amadori
;
Maria Stella Vari
, et al.
소스
Frontiers in Neurology, Vol 12 (2021)
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7 . Academic Journal
The Role of Muscle Biopsy in Diagnostic Process of Infant Hypotonia: From Clinical Classification to the Genetic Outcome
저자
by
Marco Veneruso
;
Chiara Fiorillo
;
Paolo Broda
;
Serena Baratto
;
Monica Traverso
, et al.
소스
Frontiers in Neurology, Vol 12 (2021)
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7 . Academic Journal
AMPA receptor GluA2 subunit defects are a cause of neurodevelopmental disorders
저자
by
Vincenzo Salpietro
;
Christine L. Dixon
;
Hui Guo
;
Oscar D. Bello
;
Jana Vandrovcova
, et al.
소스
Nature Communications, Vol 10, Iss 1, Pp 1-16 (2019)
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7 . Academic Journal
Neuromuscular and Neuroendocrinological Features Associated With ZC4H2-Related Arthrogryposis Multiplex Congenita in a Sicilian Family: A Case Report
저자
by
Gianluca Piccolo
;
Giuseppe d'Annunzio
;
Elisabetta Amadori
;
Antonella Riva
;
Paola Borgia
, et al.
소스
Frontiers in Neurology, Vol 12 (2021)
Open Access (DOAJ)
Scopus
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7 . Academic Journal
P2X7 Receptor Antagonist Reduces Fibrosis and Inflammation in a Mouse Model of Alpha-Sarcoglycan Muscular Dystrophy
저자
by
Lizzia Raffaghello
;
Elisa Principi
;
Serena Baratto
;
Chiara Panicucci
;
Sara Pintus
, et al.
소스
Pharmaceuticals, Vol 15, Iss 1, p 89 (2022)
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7 . Academic Journal
Loss of Wwox Perturbs Neuronal Migration and Impairs Early Cortical Development
저자
by
Michele Iacomino
;
Simona Baldassari
;
Yuki Tochigi
;
Katarzyna Kośla
;
Francesca Buffelli
, et al.
소스
Frontiers in Neuroscience, Vol 14 (2020)
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