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Overview Leadership Blog JoVE Help Center

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Publishing Process Editorial Board Scope & Policies Peer Review FAQ Submit

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Testimonials Subscriptions Access Resources Library Advisory Board FAQ

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K D Gerbitz

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Human Pathology|December 1, 1992

In situ hybridization of mitochondrial DNA in the heart of a patient with Kearns-Sayre syndrome and dilatative cardiomyopathyJ Müller-Höcker, P Seibel, K Schneiderbanger, et al.

Human Molecular Genetics|April 6, 2000

Mutations in SCO2 are associated with a distinct form of hypertrophic cardiomyopathy and cytochrome c oxidase deficiencyM Jaksch, I Ogilvie, J Yao, et al.

Journal of Inherited Metabolic Disease|August 7, 2001

Detection of neonatal argininosuccinate lyase deficiency by serum tandem mass spectrometryS Stadler, K Gempel, I Bieger, et al.

Biochemical and Biophysical Research Communications|June 29, 1990

Different copy numbers of apparently identically deleted mitochondrial DNA in tissues from a patient with Kearns-Sayre syndrome detected by PCRB Obermaier-Kusser, J Müller-Höcker, I Nelson, et al.

Human Molecular Genetics|November 18, 1998

Diabetes insipidus, diabetes mellitus, optic atrophy and deafness (DIDMOAD) caused by mutations in a novel gene (wolframin) coding for a predicted transmembrane proteinT M Strom, K Hörtnagel, S Hofmann, et al.

FEBS Letters|July 29, 1991

Respiratory chain activity in tissues from patients (MELAS) with a point mutation of the mitochondrial genome [tRNA(Leu(UUR))]B Obermaier-Kusser, I Paetzke-Brunner, C Enter, et al.

Human Genetics|December 1, 1991

A specific point mutation in the mitochondrial genome of Caucasians with MELASC Enter, J Müller-Höcker, S Zierz, et al.

The Journal of Biological Chemistry|August 8, 2001

Role of the deafness dystonia peptide 1 (DDP1) in import of human Tim23 into the inner membrane of mitochondriaU Rothbauer, S Hofmann, N Mühlenbein, et al.

Biochemical and Biophysical Research Communications|October 12, 2000

Characterization of human SCO1 and COX17 genes in mitochondrial cytochrome-c-oxidase deficiencyR Horvath, H Lochmüller, R Stucka, et al.

Genomics|January 1, 1997

Wolfram (DIDMOAD) syndrome and Leber hereditary optic neuropathy (LHON) are associated with distinct mitochondrial DNA haplotypesS Hofmann, R Bezold, M Jaksch, et al.

Pageof 7

Search research articles

Showing results (41-50 of 63) with videos related to

Sort By:

Pageof 7

Human Pathology|December 1, 1992

In situ hybridization of mitochondrial DNA in the heart of a patient with Kearns-Sayre syndrome and dilatative cardiomyopathyJ Müller-Höcker, P Seibel, K Schneiderbanger, et al.

Human Molecular Genetics|April 6, 2000

Mutations in SCO2 are associated with a distinct form of hypertrophic cardiomyopathy and cytochrome c oxidase deficiencyM Jaksch, I Ogilvie, J Yao, et al.

Journal of Inherited Metabolic Disease|August 7, 2001

Detection of neonatal argininosuccinate lyase deficiency by serum tandem mass spectrometryS Stadler, K Gempel, I Bieger, et al.

Biochemical and Biophysical Research Communications|June 29, 1990

Different copy numbers of apparently identically deleted mitochondrial DNA in tissues from a patient with Kearns-Sayre syndrome detected by PCRB Obermaier-Kusser, J Müller-Höcker, I Nelson, et al.

Human Molecular Genetics|November 18, 1998

FEBS Letters|July 29, 1991

Respiratory chain activity in tissues from patients (MELAS) with a point mutation of the mitochondrial genome [tRNA(Leu(UUR))]B Obermaier-Kusser, I Paetzke-Brunner, C Enter, et al.

Human Genetics|December 1, 1991

A specific point mutation in the mitochondrial genome of Caucasians with MELASC Enter, J Müller-Höcker, S Zierz, et al.

The Journal of Biological Chemistry|August 8, 2001

Role of the deafness dystonia peptide 1 (DDP1) in import of human Tim23 into the inner membrane of mitochondriaU Rothbauer, S Hofmann, N Mühlenbein, et al.

Biochemical and Biophysical Research Communications|October 12, 2000

Characterization of human SCO1 and COX17 genes in mitochondrial cytochrome-c-oxidase deficiencyR Horvath, H Lochmüller, R Stucka, et al.

Genomics|January 1, 1997

Wolfram (DIDMOAD) syndrome and Leber hereditary optic neuropathy (LHON) are associated with distinct mitochondrial DNA haplotypesS Hofmann, R Bezold, M Jaksch, et al.

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