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1 . Academic Journal
Vacuolated PAS‐positive lymphocytes as an hallmark of Pompe disease and other myopathies related to impaired autophagy.
저자
by
Pascarella, Angelo
;
Terracciano, Chiara
;
Farina, Olimpia
;
Lombardi, Luca
;
Esposito, Teresa
, et al.
소스
Journal of Cellular Physiology
. Aug2018, Vol. 233 Issue 8, p5829-5837. 9p.
Full Text (Wiley)
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7 . Academic Journal
Targeted gene panel screening is an effective tool to identify undiagnosed late onset Pompe disease.
저자
by
Savarese, Marco
;
Torella, Annalaura
;
Musumeci, Olimpia
;
Angelini, Corrado
;
Astrea, Guja
, et al.
소스
Neuromuscular Disorders
. Jul2018, Vol. 28 Issue 7, p586-591. 6p.
Full Text (Clinical Key)
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7 . Academic Journal
Identification of the first dominant mutation of LAMA5 gene causing a complex multisystem syndrome due to dysfunction of the extracellular matrix.
저자
by
Sampaolo, Simone
;
Napolitano, Filomena
;
Tirozzi, Alfonsina
;
Reccia, Mafalda Giovanna
;
Lombardi, Luca
, et al.
소스
Journal of Medical Genetics; Oct2017, Vol. 54 Issue 10, p710-720, 11p
Full Text (BMJ Journals)
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7 . Academic Journal
Successful long-term therapy with flecainide in a family with paramyotonia congenita.
저자
by
Terracciano, Chiara
;
Farina, Olimpia
;
Esposito, Teresa
;
Lombardi, Luca
;
Napolitano, Filomena
, et al.
소스
Journal of Neurology, Neurosurgery & Psychiatry; Nov2018, Vol. 89 Issue 11, p1232-1234, 3p
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7 . Academic Journal
The genetic basis of undiagnosed muscular dystrophies and myopathies: Results from 504 patients.
저자
by
Savarese, Marco
;
Di Fruscio, Giuseppina
;
Torella, Annalaura
;
Fiorillo, Chiara
;
Magri, Francesca
, et al.
소스
Neurology; 7/5/2016, Vol. 87 Issue 1, p71-76, 6p
Full Text (LWW)
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7 . Academic Journal
Distinct disease phenotypes linked to different combinations of GAA mutations in a large late-onset GSDII sibship.
저자
by
Sampaolo, Simone
;
Esposito, Teresa
;
Farina, Olimpia
;
Formicola, Daniela
;
Diodato, Daria
, et al.
소스
Orphanet Journal of Rare Diseases
. 2013, Vol. 8 Issue 1, p1-22. 22p.
Open Access (BioMed Central)
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7 . Academic Journal
Digenic mutational inheritance of the integrin alpha 7 and the myosin heavy chain 7B genes causes congenital myopathy with left ventricular non-compact cardiomyopathy.
저자
by
Esposito, Teresa
;
Sampaolo, Simone
;
Limongelli, Giuseppe
;
Varone, Antonio
;
Formicola, Daniela
, et al.
소스
Orphanet Journal of Rare Diseases
. 2013, Vol. 8 Issue 1, p1-13. 13p. 1 Color Photograph, 2 Black and White Photographs, 1 Diagram, 2 Charts, 4 Graphs.
Open Access (BioMed Central)
Web of Science
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7 . Academic Journal
Common variants in the regulative regions ofGRIA1 and GRIA3 receptor genes are associatedwith migraine susceptibility.
저자
by
Formicola, Daniela
;
Aloia, Andrea
;
Sampaolo, Simone
;
Farina, Olimpia
;
Diodato, Daria
, et al.
소스
BMC Medical Genetics
. 2010, Vol. 11, p103-114. 12p.
Open Access (BioMed Central)
Scopus
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7 .
P32. Vacuolated pas-positive lymphocytes: a screening test for pompe disease and other autophagic myopathies
저자
by
Terracciano, Chiara
;
Napolitano, Filomena
;
Pascarella, Angelo
;
Farina, Olimpia
;
Esposito, Teresa
, et al.
소스
요약보기
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7 .
Successful long-term therapy with flecainide in a family with paramyotonia congenita
저자
by
Filomena Napolitano
;
Paolo De Blasiis
;
Vincenzo Todisco
;
Giuseppe Di Iorio
;
Simone Sampaolo
, et al.
소스
eJNNP (Lond.) 89 (2018): 1232–1234. doi:10.1136/jnnp-2017-317615
info:cnr-pdr/source/autori:Terracciano C.; Farina O.; Esposito T.; Lombardi L.; Napolitano F.; Blasiis P.D.; Ciccone G.; Todisco V.; Tuccillo F.; Bernardini S.; Di Iorio G.; Melone M.A.B.; Sampaolo S./titolo:Successful long-term therapy with flecainide in a family with paramyotonia congenita/doi:10.1136%2Fjnnp-2017-317615/rivista:eJNNP (Lond.)/anno:2018/pagina_da:1232/pagina_a:1234/intervallo_pagine:1232–1234/volume:89
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