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1 . Periodical
Reduced mitochondrial Ca2+transients stimulate autophagy in human fibroblasts carrying the 13514A>G mutation of the ND5 subunit of NADH dehydrogenase
저자
by
Granatiero, V
;
Giorgio, V
;
Calì, T
;
Patron, M
;
Brini, M
, et al.
소스
Cell Death and Differentiation; February 2016, Vol. 23 Issue: 2 p231-241, 11p
Full Text (Nature)
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7 .
R106C TFG variant causes infantile neuroaxonal dystrophy 'plus' syndrome
저자
by
Alessia Catania
;
Valeria Tiranti
;
Marco Seri
;
Nardo Nardocci
;
Tommaso Pippucci
, et al.
소스
neurogenetics
. 19:179-187
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7 . Academic Journal
Ethylmalonic encephalopathy: application of improved biochemical and molecular diagnostic approaches
저자
by
Drousiotou, A
;
DiMeo, I
;
Mineri, R
;
Georgiou, Th
;
Stylianidou, G
, et al.
소스
Clinical Genetics
. Apr 01, 2011 79(4):385-390
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7 . Academic Journal
Identification of new mutations in the ETHE1 gene in a cohort of 14 patients presenting with ethylmalonic encephalopathy
저자
by
Mineri, R
;
Rimoldi, M
;
Burlina, A B
;
Koskull, S
;
Perletti, C
, et al.
소스
Journal of Medical Genetics
. Jul 01, 2008 45(7):473-478
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7 . Academic Journal
A novel missense adenine nucleotide translocator-1 gene mutation in a Greek adPEO family.
저자
by
Napoli, L
;
Bordoni, A
;
Zeviani, M
;
Hadjigeorgiou, G M
;
Sciacco, M
, et al.
소스
Neurology; 2001 Dec 26, Vol. 57 Issue 12, p2295-2298, 4p
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7 . Academic Journal
A novel mtDNA mutation in the ND5 subunit of complex I in two MELAS patients.
저자
by
Corona, Paola
;
Antozzi, Carlo
;
Carrara, Franco
;
D'Incerti, Ludovico
;
Lamantea, Eleonora
, et al.
소스
Annals of Neurology; 2001, Vol. 49 Issue 1, p106-110, 5p
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7 . Academic Journal
ETHE1 mutations are specific to ethylmalonic encephalopathy
저자
by
Tiranti, V
;
Briem, E
;
Lamantea, E
;
Mineri, R
;
Papaleo, E
, et al.
소스
JOURNAL OF MEDICAL GENETICS
. Apr 01, 2006 43(4):340-346
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7 . Academic Journal
Novel mutations in COX15 in a long surviving Leigh syndrome patient with cytochrome c oxidase deficiency
저자
by
Bugiani, M
;
Tiranti, V
;
Farina, L
;
Uziel, G
;
Zeviani, M
.
소스
JOURNAL OF MEDICAL GENETICS
. May 01, 2005 42(5):e28-e28
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7 .
New genes and pathomechanisms in mitochondrial disorders unraveled by NGS technologies
저자
by
Alan J. Robinson
;
Daniele Ghezzi
;
Isabella Moroni
;
Costanza Lamperti
;
Federica Invernizzi
, et al.
소스
Biochimica et Biophysica Acta (BBA) - Bioenergetics
. 1857:1326-1335
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7 . Academic Journal
Disorders of mitochondria and related metabolism.
저자
by
Zeviani, M
;
Fernandez-Silva, P
;
Tiranti, V
.
소스
Current Opinion in Neurology; 1997 Apr, Vol. 10 Issue 2, p160-167, 8p
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