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1 . Academic Journal
Insights from genotype–phenotype correlations by novel SPEG mutations causing centronuclear myopathy
저자
by
Wang, Haicui
;
Castiglioni, Claudia
;
Kaçar Bayram, Ayşe
;
Fattori, Fabiana
;
Pekuz, Serdar
, et al.
소스
In
Neuromuscular Disorders
September 2017 27(9):836-842
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7 . Academic Journal
Familial childhood onset, slowly progressive myopathy plus cardiomyopathy expands the phenotype related to variants in the TTN gene.
저자
by
Perna, Alessia
;
Bosco, Luca
;
Fattori, Fabiana
;
Torchia, Eleonora
;
Modoni, Anna
, et al.
소스
Neuromuscular Disorders
. Apr2024, Vol. 37, p1-5. 5p.
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7 . Academic Journal
Titin copy number variations associated with dominant inherited phenotypes.
저자
by
Perrin, Aurélien
;
Métay, Corinne
;
Savarese, Marco
;
Ben Yaou, Rabah
;
Demidov, German
, et al.
소스
Journal of Medical Genetics; Apr2024, Vol. 61 Issue 4, p369-377, 11p
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7 . Academic Journal
Novel findings associated with MTM1 suggest a higher number of female symptomatic carriers
저자
by
Savarese, Marco
;
Musumeci, Olimpia
;
Giugliano, Teresa
;
Rubegni, Anna
;
Fiorillo, Chiara
, et al.
소스
In
Neuromuscular Disorders
April-May 2016 26(4-5):292-299
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7 . Academic Journal
Muscle imaging in patients with tubular aggregate myopathy caused by mutations in STIM1
저자
by
Tasca, Giorgio
;
D'Amico, Adele
;
Monforte, Mauro
;
Nadaj-Pakleza, Aleksandra
;
Vialle, Marc
, et al.
소스
In
Neuromuscular Disorders
November 2015 25(11):898-903
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7 . Academic Journal
P452: Specifying the ACMG/AMP variant sequence interpretation guidelines for congenital myopathies*
저자
by
DiStefano, Marina
;
Webb, Ryan
;
McCurry, Hannah
;
McNulty Gray, Shannon
;
Tomar, Swati
, et al.
소스
In
Genetics in Medicine Open
2023 1(1) Supplement
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7 . Academic Journal
Centronuclear myopathy related to dynamin 2 mutations: Clinical, morphological, muscle imaging and genetic features of an Italian cohort
저자
by
Catteruccia, Michela
;
Fattori, Fabiana
;
Codemo, Valentina
;
Ruggiero, Lucia
;
Maggi, Lorenzo
, et al.
소스
In
Neuromuscular Disorders
March 2013 23(3):229-238
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7 . Academic Journal
Brown–Vialetto–van Laere and Fazio–Londe overlap syndromes: A clinical, biochemical and genetic study
저자
by
Ciccolella, Marianna
;
Catteruccia, Michela
;
Benedetti, Sabina
;
Moroni, Isabella
;
Uziel, Graziella
, et al.
소스
In
Neuromuscular Disorders
December 2012 22(12):1075-1082
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7 . Academic Journal
Clinical and audiological follow up of a family with the 8363G > A mutation in the mitochondrial DNA
저자
by
DiFabio, Roberto
;
Santorelli, Filippo M.
;
Nola, Giuseppe
;
Cricchi, Federica
;
Masi, Roberto
, et al.
소스
In
Neuromuscular Disorders
2009 19(4):291-296
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7 . Academic Journal
Peculiar muscle imaging findings in a patient with alphaB-crystallinopathy and axial myopathy
저자
by
Bortolani, Sara
;
Fattori, Fabiana
;
Monforte, Mauro
;
Ricci, Enzo
;
Tasca, Giorgio
.
소스
In
Journal of the Neurological Sciences
15 September 2020 416
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