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Holger Prokisch

Showing results (51-60 of 394) with videos related to

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Molecular Genetics and Metabolism Reports|December 9, 2020
Recurrent acute liver failure in alanyl-tRNA synthetase-1 (AARS1) deficiencyLara M Marten, Florian Brinkert, Desirée E C Smith, et al.
Plos One|March 4, 2014
Impairment of Drosophila orthologs of the human orphan protein C19orf12 induces bang sensitivity and neurodegenerationArcangela Iuso, Ody C M Sibon, Matteo Gorza, et al.
Frontiers in Genetics|July 3, 2015
Mutations of C19orf12, coding for a transmembrane glycine zipper containing mitochondrial protein, cause mis-localization of the protein, inability to respond to oxidative stress and increased mitochondrial Ca²⁺Paola Venco, Massimo Bonora, Carlotta Giorgi, et al.
International Journal of Molecular Sciences|January 20, 2021
X-Linked Retinitis Pigmentosa Caused by Non-Canonical Splice Site Variants in <i>RPGR</i>Friederike Kortüm, Sinja Kieninger, Pascale Mazzola, et al.
Movement Disorders : Official Journal of the Movement Disorder Society|November 14, 2007
Anticholinergic-responsive gait freezing in a patient with pantothenate kinase-associated neurodegenerationChul Hyoung Lyoo, Holger Prokisch, Thomas Meitinger, et al.
Brain : a Journal of Neurology|June 1, 2014
Infantile Leigh-like syndrome caused by SLC19A3 mutations is a treatable diseaseTobias B Haack, Dirk Klee, Tim M Strom, et al.
Frontiers in Genetics|May 31, 2021
Identification of a Novel Variant in <i>MT-CO3</i> Causing MELASManting Xu, Robert Kopajtich, Matthias Elstner, et al.
Mitochondrion|October 17, 2021
Identification of a novel m.3955G > A variant in MT-ND1 associated with Leigh syndromeManting Xu, Robert Kopajtich, Matthias Elstner, et al.
Child'S Nervous System : Chns : Official Journal of the International Society for Pediatric Neurosurgery|July 25, 2016
The many faces of paediatric mitochondrial disease on neuroimagingFabian Baertling, Dirk Klee, Tobias B Haack, et al.
Frontiers in Pharmacology|December 28, 2020
Case Report: Rapid Treatment of Uridine-Responsive Epileptic Encephalopathy Caused by CAD DeficiencyLing Zhou, Jie Deng, Sarah L Stenton, et al.
Pageof 40

Showing results (51-60 of 394) with videos related to

Sort By:
Pageof 40
Molecular Genetics and Metabolism Reports|December 9, 2020
Recurrent acute liver failure in alanyl-tRNA synthetase-1 (AARS1) deficiencyLara M Marten, Florian Brinkert, Desirée E C Smith, et al.
Plos One|March 4, 2014
Impairment of Drosophila orthologs of the human orphan protein C19orf12 induces bang sensitivity and neurodegenerationArcangela Iuso, Ody C M Sibon, Matteo Gorza, et al.
Frontiers in Genetics|July 3, 2015
Mutations of C19orf12, coding for a transmembrane glycine zipper containing mitochondrial protein, cause mis-localization of the protein, inability to respond to oxidative stress and increased mitochondrial Ca²⁺Paola Venco, Massimo Bonora, Carlotta Giorgi, et al.
International Journal of Molecular Sciences|January 20, 2021
X-Linked Retinitis Pigmentosa Caused by Non-Canonical Splice Site Variants in <i>RPGR</i>Friederike Kortüm, Sinja Kieninger, Pascale Mazzola, et al.
Movement Disorders : Official Journal of the Movement Disorder Society|November 14, 2007
Anticholinergic-responsive gait freezing in a patient with pantothenate kinase-associated neurodegenerationChul Hyoung Lyoo, Holger Prokisch, Thomas Meitinger, et al.
Brain : a Journal of Neurology|June 1, 2014
Infantile Leigh-like syndrome caused by SLC19A3 mutations is a treatable diseaseTobias B Haack, Dirk Klee, Tim M Strom, et al.
Frontiers in Genetics|May 31, 2021
Identification of a Novel Variant in <i>MT-CO3</i> Causing MELASManting Xu, Robert Kopajtich, Matthias Elstner, et al.
Mitochondrion|October 17, 2021
Identification of a novel m.3955G > A variant in MT-ND1 associated with Leigh syndromeManting Xu, Robert Kopajtich, Matthias Elstner, et al.
Child'S Nervous System : Chns : Official Journal of the International Society for Pediatric Neurosurgery|July 25, 2016
The many faces of paediatric mitochondrial disease on neuroimagingFabian Baertling, Dirk Klee, Tobias B Haack, et al.
Frontiers in Pharmacology|December 28, 2020
Case Report: Rapid Treatment of Uridine-Responsive Epileptic Encephalopathy Caused by CAD DeficiencyLing Zhou, Jie Deng, Sarah L Stenton, et al.
Pageof 40