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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
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by
Fernanda Fortunato
;
Francesca Bianchi
;
Giulia Ricci
;
Francesca Torri
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Francesca Gualandi
, et al.
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Orphanet Journal of Rare Diseases, Vol 18, Iss 1, Pp 1-7 (2023)
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7 . Academic Journal
Balance impairment in myotonic dystrophy type 1: Dynamic posturography suggests the coexistence of a proprioceptive and vestibular deficit
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by
Stefano Scarano
;
Valeria Ada Sansone
;
Carola Rita Ferrari Aggradi
;
Elena Carraro
;
Luigi Tesio
, et al.
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Frontiers in Human Neuroscience, Vol 16 (2022)
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7 . Academic Journal
Assessment of Respiratory Function and Need for Noninvasive Ventilation in a Cohort of Patients with Myotonic Dystrophy Type 1 Followed at One Single Expert Center
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by
Carola R. Ferrari Aggradi
;
Elisa Falcier
;
Andrea Lizio
;
Alice Pirola
;
Jacopo Casiraghi
, et al.
소스
Canadian Respiratory Journal, Vol 2022 (2022)
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7 . Academic Journal
Pure myopathy with enlarged mitochondria associated to a new mutation in MTND2 gene
저자
by
Alice Zanolini
;
Ana Potic
;
Franco Carrara
;
Eleonora Lamantea
;
Daria Diodato
, et al.
소스
Molecular Genetics and Metabolism Reports, Vol 10, Iss C, Pp 24-27 (2017)
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7 .
Body composition and myokines in a cohort of patients with Becker muscular dystrophy
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by
Andrea Barp
;
Elena Carraro
;
Giovanni Goggi
;
Andrea Lizio
;
Alice Zanolini
, et al.
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Muscle & Nerve
. 66:63-70
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7 .
Pure myopathy with enlarged mitochondria associated to a new mutation in MTND2 gene
저자
by
Marina Mora
;
Eleonora Lamantea
;
Francesco Pallotti
;
Costanza Lamperti
;
Massimo Zeviani
, et al.
소스
Molecular Genetics and Metabolism Reports, Vol 10, Iss C, Pp 24-27 (2017)
Molecular Genetics and Metabolism Reports
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7 .
RNASEH1 Mutations Impair mtDNA Replication and Cause Adult-Onset Mitochondrial Encephalomyopathy
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by
Sara Bonato
;
Maurizio Moggio
;
Alice Zanolini
;
Alessia Nasca
;
Daniele Ghezzi
, et al.
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7 .
A nonsense mutation of human XRCC4 is associated with adult-onset progressive encephalocardiomyopathy
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by
Costanza Lamperti
;
Alessia Nasca
;
Filippo Cendron
;
Lucia Celotti
;
Alice Zanolini
, et al.
소스
EMBO Molecular Medicine
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7 .
A novel mutation in TTC19 associated with isolated complex III deficiency, cerebellar hypoplasia, and bilateral basal ganglia lesions
저자
by
Orly Elpeleg
;
Daniele Ghezzi
;
Bassam Y. Abu Libdeh
;
Nadirah Damseh
;
Alessia Nasca
, et al.
소스
Frontiers in Genetics
Frontiers in Genetics, Vol 5 (2014)
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