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1 .
An adult patient with 3-methylglutaconic aciduria type 1 and movement disorders
저자
by
Mainardi, M
;
Lerjefors, L
;
Bonato, G
;
Bertolin, C
;
Salviati, L
, et al.
소스
Journal of Neurology
. 269:3915-3917
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7 .
Maturation signatures of conventional dendritic cell subtypes in COVID‐19 suggest direct viral sensing
저자
by
Valeria Bevilacqua
;
Fabio A. Facchini
;
Roberto Spreafico
;
Nicasio Mancini
;
Luca Nespoli
, et al.
소스
European Journal of Immunology
Open Access (OpenAIRE)
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7 . Academic Journal
Mitochondrial DNA depletion: mutations in thymidine kinase gene with myopathy and SMA.
저자
by
Mancuso, M
;
Salviati, L
;
Sacconi, S
;
Otaegui, D
;
Camaño, P
, et al.
소스
Neurology; 2002 Oct 22, Vol. 59 Issue 8, p1197-1202, 6p
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7 . Academic Journal
Diencephalic syndrome and disseminated juvenile pilocytic astrocytomas of the hypothalamic-optic chiasm region.
저자
by
Perilongo, Giorgio
;
Carollo, Carla
;
Salviati, Leonardo
;
Murgia, Alessandra
;
Pillon, Marta
, et al.
소스
Cancer (0008543X); Jul1997, Vol. 80 Issue 1, p142-146, 5p
Full Text (Wiley)
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7 .
Loss of OPA1 in Muscle Impacts Muscle Mass, Metabolic Homeostasis, Systemic Inflammation, and Epithelial Senescence
저자
by
Tezze, C
;
Romanello, V
;
Desbats, Ma
;
Fadini, Gp
;
Albiero, M
, et al.
소스
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7 .
Not only dominant, not only optic atrophy: expanding the clinical spectrum associated with OPA1 mutations
저자
by
Giancarlo Iarossi
;
Enrico Bertini
;
Andrea Ciolfi
;
Isabella Moroni
;
Daniele Ghezzi
, et al.
소스
Orphanet Journal of Rare Diseases
Orphanet Journal of Rare Diseases, Vol 12, Iss 1, Pp 1-10 (2017)
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7 . Academic Journal
Infantile encephalomyopathy and nephropathy with CoQ10 deficiency: a CoQ10-responsive condition.
저자
by
Salviati L
;
Sacconi S
;
Murer L
;
Zacchello G
;
Franceschini L
, et al.
소스
Neurology; 2005 Aug 23, Vol. 65 Issue 4, p606-608, 3p
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7 . Periodical
Diagnostic challenges in facioscapulohumeral muscular dystrophy
저자
by
Sacconi, S
;
Salviati, L
;
Bourget, I
;
Figarella, D
;
Péréon, Y
, et al.
소스
Neurology (Ovid); October 2006, Vol. 67 Issue: 8 p1464-1466, 3p
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7 .
High frequency of mosaic CREBBP deletions in Rubinstein–Taybi syndrome patients and mapping of somatic and germ-line breakpoints
저자
by
Angelo Selicorni
;
Anna Maria Pinto
;
Maria Luisa Giovannucci-Uzielli
;
Romano Tenconi
;
Cristina Gervasini
, et al.
소스
Genomics
. 90(5):567-573
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7 .
Primary coenzyme Q10 deficiency presenting as fatal neonatal multiorgan failure
저자
by
Eva Trevisson
;
Maurizio Clementi
;
Leonardo Salviati
;
Corrado Angelini
;
Alberto Burlina
, et al.
소스
Eur J Hum Genet
Eur J Hum Genet, 2015, 23, pp.1254-1258. ⟨10.1038/ejhg.2014.277⟩
European Journal of Human Genetics
Digital.CSIC. Repositorio Institucional del CSIC
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