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1 . Academic Journal
Broad phenotypic spectrum and genotype-phenotype correlations in GMPPB-related dystroglycanopathies: an Italian cross-sectional study
저자
by
Guja Astrea
;
Alessandro Romano
;
Corrado Angelini
;
Carlo Giuseppe Antozzi
;
Rita Barresi
, et al.
소스
Orphanet Journal of Rare Diseases, Vol 13, Iss 1, Pp 1-9 (2018)
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7 . Academic Journal
Copy Number Variants Account for a Tiny Fraction of Undiagnosed Myopathic Patients
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by
Teresa Giugliano
;
Marco Savarese
;
Arcomaria Garofalo
;
Esther Picillo
;
Chiara Fiorillo
, et al.
소스
Genes, Vol 9, Iss 11, p 524 (2018)
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7 . Academic Journal
Next-generation sequencing identifies transportin 3 as the causative gene for LGMD1F.
저자
by
Annalaura Torella
;
Marina Fanin
;
Margherita Mutarelli
;
Enrico Peterle
;
Francesca Del Vecchio Blanco
, et al.
소스
PLoS ONE, Vol 8, Iss 5, p e63536 (2013)
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7 . Academic Journal
Progress in enzyme replacement therapy in glycogen storage disease type II
저자
by
Corrado Angelini
;
Claudio Semplicini
;
Paola Tonin
;
Massimiliano Filosto
;
Elena Pegoraro
, et al.
소스
Therapeutic Advances in Neurological Disorders, Vol 2 (2009)
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7 .
Update on polyglucosan storage diseases
저자
by
Valentina Papa
;
Giovanna Cenacchi
;
C. Angelini
;
Roberta Costa
;
Valentina Pegoraro
, et al.
소스
Virchows Archiv
. 475:671-686
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7 .
Review: Danon disease: Review of natural history and recent advances
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by
Valentina Papa
;
Marina Fanin
;
Corrado Angelini
;
Giovanna Cenacchi
;
Roberta Marozzo
, et al.
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7 . Academic Journal
Biochemical and ultrastructural evidence of endoplasmic reticulum stress in LGMD2I.
저자
by
Chiara Boito
;
Marina Fanin
;
Bruno Gavassini
;
Giovanna Cenacchi
;
Corrado Angelini
, et al.
소스
Virchows Archiv: European Journal of Pathology; Dec2007, Vol. 451 Issue 6, p1047-1055, 9p
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7 .
Limb girdle muscular dystrophies: clinical-genetical diagnostic update and prospects for therapy
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by
Corrado Angelini
;
Marina Fanin
.
소스
Expert Opinion on Orphan Drugs
. 5:769-784
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4 . Academic Journal
Phenotype modulators in myophosphorylase deficiency.
저자
by
Andrea Martinuzzi
;
Elena Sartori
;
Marina Fanin
;
Annachiara Nascimbeni
;
Lucia Valente
, et al.
소스
Annals of Neurology; Apr2003, Vol. 53 Issue 4, p497-502, 6p
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7 .
Progress and challenges in diagnosis of dysferlinopathy
저자
by
Corrado Angelini
;
Marina Fanin
.
소스
Muscle & Nerve
. 54:821-835
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