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1 . Academic Journal
Case report: A novel ACTA1 variant in a patient with nemaline rods and increased glycogen deposition.
저자
by
Piga, Daniela
;
Rimoldi, Martina
;
Magri, Francesca
;
Zanotti, Simona
;
Napoli, Laura
, et al.
소스
Frontiers in Neurology; 2024, p1-9, 9p
Web of Science
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7 . Academic Journal
Glucose-free/high-protein diet improves hepatomegaly and exercise intolerance in glycogen storage disease type III mice
저자
by
Pagliarani, Serena
;
Lucchiari, Sabrina
;
Ulzi, Gianna
;
Ripolone, Michela
;
Violano, Raffaella
, et al.
소스
In
BBA - Molecular Basis of Disease
October 2018 1864(10):3407-3417
Full Text (ScienceDirect)
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7 . Academic Journal
Case report: Dihydropyridine receptor (CACNA1S) congenital myopathy, a novel phenotype with early onset periodic paralysis.
저자
by
Aburahma, Samah K.
;
Rousan, Liqa A.
;
Shboul, Mohammad
;
Biella, Fabio
;
Lucchiari, Sabrina
, et al.
소스
Frontiers in Neurology; 2024, p1-8, 8p
Web of Science
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7 . Academic Journal
Combined RNA interference and gene replacement therapy targeting MFN2 as proof of principle for the treatment of Charcot–Marie–Tooth type 2A.
저자
by
Rizzo, Federica
;
Bono, Silvia
;
Ruepp, Marc David
;
Salani, Sabrina
;
Ottoboni, Linda
, et al.
소스
Cellular & Molecular Life Sciences
. Dec2023, Vol. 80 Issue 12, p1-17. 17p.
Web of Science
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7 . Academic Journal
Case report: Clinical and molecular characterization of two siblings affected by Brody myopathy.
저자
by
Velardo, Daniele
;
Antognozzi, Sara
;
Rimoldi, Martina
;
Pagliarani, Serena
;
Cogiamanian, Filippo
, et al.
소스
Frontiers in Neurology; 2023, p1-6, 6p
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7 . Academic Journal
CACNA1S mutation associated with a case of juvenile-onset congenital myopathy
저자
by
Mauri, Eleonora
;
Piga, Daniela
;
Pagliarani, Serena
;
Magri, Francesca
;
Manini, Arianna
, et al.
소스
In
Journal of the Neurological Sciences
15 December 2021 431
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7 . Academic Journal
Case report: Sodium and chloride muscle channelopathy coexistence: A complicated phenotype and a challenging diagnosis.
저자
by
Pagliarani, Serena
;
Meola, Giovanni
;
Filareti, Melania
;
Comi, Giacomo Pietro
;
Lucchiari, Sabrina
.
소스
Frontiers in Neurology; 8/23/2022, Vol. 13, p1-6, 6p
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7 . Academic Journal
p.Asn1180Ile mutation of SCN4A gene in an Italian family with myopathy and myotonic syndrome.
저자
by
Rigamonti, Andrea
;
Mantero, Vittorio
;
Peverelli, Lorenzo
;
Pagliarani, Serena
;
Lucchiari, Sabrina
, et al.
소스
Neurological Sciences
. Dec2021, Vol. 42 Issue 12, p5359-5363. 5p. 2 Color Photographs, 1 Diagram.
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7 . Academic Journal
Early Findings in Neonatal Cases of RYR1 –Related Congenital Myopathies.
저자
by
Mauri, Eleonora
;
Piga, Daniela
;
Govoni, Alessandra
;
Brusa, Roberta
;
Pagliarani, Serena
, et al.
소스
Frontiers in Neurology; 6/28/2021, Vol. 12, p1-9, 9p
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7 . Academic Journal
MYH2 myopathy, a new case expands the clinical and pathological spectrum of the recessive form.
저자
by
Telese, Roberta
;
Pagliarani, Serena
;
Lerario, Alberto
;
Ciscato, Patrizia
;
Fagiolari, Gigliola
, et al.
소스
Molecular Genetics & Genomic Medicine
. Sep2020, Vol. 8 Issue 9, p1-9. 9p.
Open Access (Wiley)
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