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Simone Schimpf

Showing results (11-20 of 19) with videos related to

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Journal of Medical Genetics|October 19, 2013
A novel heterozygous OPA3 mutation located in the mitochondrial target sequence results in altered steady-state levels and fragmented mitochondrial networkTanja Grau, Lena F Burbulla, Gertraud Engl, et al.
Brain : a Journal of Neurology|January 29, 2008
OPA1 mutations associated with dominant optic atrophy impair oxidative phosphorylation and mitochondrial fusionClaudia Zanna, Anna Ghelli, Anna Maria Porcelli, et al.
Ophthalmology|April 27, 2010
OPA1 mutations associated with dominant optic atrophy influence optic nerve head sizePiero Barboni, Michele Carbonelli, Giacomo Savini, et al.
Brain : a Journal of Neurology|August 23, 2014
'Behr syndrome' with OPA1 compound heterozygote mutationsValerio Carelli, Mario Sabatelli, Rosalba Carrozzo, et al.
Brain : a Journal of Neurology|February 23, 2007
A splice site mutation in the murine Opa1 gene features pathology of autosomal dominant optic atrophyMarcel V Alavi, Stefanie Bette, Simone Schimpf, et al.
Archives of Neurology|September 15, 2010
Defective mitochondrial adenosine triphosphate production in skeletal muscle from patients with dominant optic atrophy due to OPA1 mutationsRaffaele Lodi, Caterina Tonon, Maria Lucia Valentino, et al.
Scientific Reports|October 8, 2020
Haploinsufficiency due to a novel ACO2 deletion causes mitochondrial dysfunction in fibroblasts from a patient with dominant optic nerve atrophyMarie Anne-Catherine Neumann, Dajana Grossmann, Simone Schimpf-Linzenbold, et al.
Human Molecular Genetics|February 26, 2011
A clinically complex form of dominant optic atrophy (OPA8) maps on chromosome 16Valerio Carelli, Simone Schimpf, Nico Fuhrmann, et al.
Brain Communications|May 31, 2021
Dominant <i>ACO2</i> mutations are a frequent cause of isolated optic atrophyMajida Charif, Naïg Gueguen, Marc Ferré, et al.
Pageof 2

Showing results (11-20 of 19) with videos related to

Sort By:
Pageof 2
You have reached the last page of results.This site can display upto 19 results.
Journal of Medical Genetics|October 19, 2013
A novel heterozygous OPA3 mutation located in the mitochondrial target sequence results in altered steady-state levels and fragmented mitochondrial networkTanja Grau, Lena F Burbulla, Gertraud Engl, et al.
Brain : a Journal of Neurology|January 29, 2008
OPA1 mutations associated with dominant optic atrophy impair oxidative phosphorylation and mitochondrial fusionClaudia Zanna, Anna Ghelli, Anna Maria Porcelli, et al.
Ophthalmology|April 27, 2010
OPA1 mutations associated with dominant optic atrophy influence optic nerve head sizePiero Barboni, Michele Carbonelli, Giacomo Savini, et al.
Brain : a Journal of Neurology|August 23, 2014
'Behr syndrome' with OPA1 compound heterozygote mutationsValerio Carelli, Mario Sabatelli, Rosalba Carrozzo, et al.
Brain : a Journal of Neurology|February 23, 2007
A splice site mutation in the murine Opa1 gene features pathology of autosomal dominant optic atrophyMarcel V Alavi, Stefanie Bette, Simone Schimpf, et al.
Archives of Neurology|September 15, 2010
Defective mitochondrial adenosine triphosphate production in skeletal muscle from patients with dominant optic atrophy due to OPA1 mutationsRaffaele Lodi, Caterina Tonon, Maria Lucia Valentino, et al.
Scientific Reports|October 8, 2020
Haploinsufficiency due to a novel ACO2 deletion causes mitochondrial dysfunction in fibroblasts from a patient with dominant optic nerve atrophyMarie Anne-Catherine Neumann, Dajana Grossmann, Simone Schimpf-Linzenbold, et al.
Human Molecular Genetics|February 26, 2011
A clinically complex form of dominant optic atrophy (OPA8) maps on chromosome 16Valerio Carelli, Simone Schimpf, Nico Fuhrmann, et al.
Brain Communications|May 31, 2021
Dominant <i>ACO2</i> mutations are a frequent cause of isolated optic atrophyMajida Charif, Naïg Gueguen, Marc Ferré, et al.
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