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1 . Academic Journal
Neurologic phenotypes associated with COL4A1/2 mutations: Expanding the spectrum of disease
저자
by
Zagaglia, Sara
;
Selch, Christina
;
Nisevic, Jelena Radic
;
Mei, Davide
;
Michalak, Zuzanna
, et al.
소스
Neurology
. Nov 09, 2018
Full Text (LWW)
Web of Science
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7 . Academic Journal
Mitochondrial Phosphate--Carrier Deficiency: A Novel Disorder of Oxidative Phosphorylation.
저자
by
Mayr, Johannes A.
;
Merkel, Olaf
;
Kohlwein, Sepp D.
;
Gebhardt, Boris R.
;
Böhles, Hansjosef
, et al.
소스
American Journal of Human Genetics
. Mar2007, Vol. 80 Issue 3, p478-484. 7p.
Full Text (ScienceDirect)
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7 . Academic Journal
A new mechanism for mtDNA pathogenesis: impairment of post-transcriptional maturation leads to severe depletion of mitochondrial tRNASer(UCN) caused by T7512C and G7497A point mutations.
저자
by
Möllers, Myriam
;
Maniura-Weber, Katharina
;
Kiseljakovic, Emina
;
Bust, Maria
;
Hayrapetyan, Armine
, et al.
소스
Nucleic Acids Research; Oct2005, Vol. 33 Issue 17, p5647-5658, 12p
Open Access (OUP)
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7 . Academic Journal
Human SCO1 and SCO2 have independent, cooperative functions in copper delivery to cytochrome c oxidase.
저자
by
Leary, Scot C.
;
Kaufman, Brett A.
;
Pellecchia, Giovanna
;
Guercin, Guy-Hellen
;
Mattman, Andre
, et al.
소스
Human Molecular Genetics; Sep2004, Vol. 13 Issue 17, p1839-1848, 10p
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7 . Academic Journal
Risk of developing a mitochondrial DNA deletion disorder.
저자
by
Chinnery, Patrick F.
;
DiMauro, Salvatore
;
Shanske, Sara
;
Schon, Eric A.
;
Zeviani, Massimo
, et al.
소스
Lancet
. 8/14/2004, Vol. 364 Issue 9434, p592-596. 5p. 1 Diagram, 1 Chart, 1 Graph.
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7 . Academic Journal
Mutations in COX10 result in a defect in mitochondrial heme A biosynthesis and account for multiple, early-onset clinical phenotypes associated with isolated COX deficiency.
저자
by
Antonicka, Hana
;
Leary, Scot C.
;
Guercin, Guy-Hellen
;
Agar, Jeffrey N.
;
Horvath, Rita
, et al.
소스
Human Molecular Genetics; Oct2003, Vol. 12 Issue 20, p2693-2702, 10p
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7 . Academic Journal
Cytochrome c oxidasedeficiency due to mutations in SCO2, encoding amitochondrial copper-binding protein, is rescued by copper in humanmyoblasts.
저자
by
Jaksch, Michaela
;
Paret, Claudia
;
Stucka, Rolf
;
Horn, Nina
;
Müller-Höcker, Josef
, et al.
소스
Human Molecular Genetics; Dec2001, Vol. 10 Issue 26, p3025-3035, 11p
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7 . Academic Journal
Frequency of mitochondrial transfer RNA mutations and deletions in 225 patients presenting with respiratory chain deficiencies.
저자
by
Jaksch, Michaela
;
Kleinle, Stephanie
;
Scharfe, Curt
;
Klopstock, Thomas
;
Pongratz, Dieter
, et al.
소스
Journal of Medical Genetics; Oct2001, Vol. 38 Issue 10, p665-673, 9p, 2 Charts
Full Text (BMJ Journals)
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7 . Academic Journal
Nail-Patella Syndrome Associated with Respiratory Chain Disorder.
저자
by
Finsterer, Josef
;
Stöllberger, Claudia
;
Wanschitz, Julia
;
Jaksch, Michaela
;
Budka, Herbert
.
소스
European Neurology
. 2001, Vol. 46 Issue 2, p92-95. 4p.
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7 . Academic Journal
Characterization of human muscle type cofilin (CFL2) in normal and regenerating muscle.
저자
by
Thirion, Christian
;
Stucka, Rolf
;
Mendel, Bettina
;
Gruhler, Albrecht
;
Jaksch, Michaela
, et al.
소스
European Journal of Biochemistry
. Jun2001, Vol. 268 Issue 12, p3473-3482. 10p.
Scopus
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