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1 .
Estimating the impact of COVID-19 pandemic on services provided by Italian Neuromuscular Centers: an Italian Association of Myology survey of the acute phase
저자
by
Mauri, E
;
Abati, E
;
Musumeci, O
;
Rodolico, C
;
D'Angelo, Mg
, et al.
소스
Acta Myologica
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7 . Academic Journal
A mitochondrial ATPase 6 mutation is associated with Leigh syndrome in a family and affects proton flow and adenosine triphosphate output when modeled in Escherichia coli
저자
by
Carrozzo, R
;
Rizza, T
;
Lucioli, S
;
Pierini, R
;
Bertini, E
, et al.
소스
Acta Paediatrica
. Apr 01, 2004 93 Suppl 445:65-67
Web of Science
Scopus
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7 . Academic Journal
Retinal migraine as unusual feature of cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL)
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by
Ravaglia, S
;
Costa, A
;
Santorelli, FM
;
Nappi, G
;
Moglia, A
.
소스
Cephalalgia
. Jan 01, 2004 24(1):74-77
Full Text (Sage OA)
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7 . Academic Journal
Tubulopathy, endocrinopathies and encephalomyopathy in a child with a novel large-scale mitochondrial DNA deletion
저자
by
Bruno, C
;
Gandullia, P
;
Santorelli, FM
;
Biedi, C
;
Carbone, I
, et al.
소스
Clinical Genetics
. Jun 01, 2002 61(6):465-467
Web of Science
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7 .
Phenotype and natural history of variant late infantile ceroid-lipofuscinosis 5
저자
by
Simonati, A
;
Williams, Re
;
Nardocci, N
;
Laine, M
;
Battini, R
, et al.
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7 .
Reading impairment in Duchenne muscular dystrophy: A pilot study to investigate similarities and differences with developmental dyslexia
저자
by
Astrea G
;
Pecini C
;
Gasperini F
;
Brisca G
;
Scutifero M
, et al.
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7 .
EDITORIAL. 'New and view. Neuromuscular diseases from child to adulthood: new tools and new opportunities'
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by
Siciliano, G
;
Santorelli, Fm
;
Battini, R
.
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5 .
TMEM5-associated dystroglycanopathy presenting with CMD and mild limb-girdle muscle involvement
저자
by
Astrea G, Pezzini I, Picillo E, Pasquariello R, Moro F, Ergoli M, D'Ambrosio P, D'Amico A, Politano L, Santorelli FM.
.
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3 .
Myoclonus in mitochondrial disorders
저자
by
Mancuso, M
;
Orsucci, D
;
Angelini, C
;
Bertini, E
;
Catteruccia, M
, et al.
소스
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7 .
Neuropsychological profiles in children with Duchenne muscular dystrophy compared to dyslexic population
저자
by
Astrea G
;
Pecini C
;
Gasperini F
;
Fiorillo C
;
Bruno C
, et al.
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