Identification and verification of novel disease-causing genes and therapy options for patients with mitochondrial disorders – Focus on ACAD9

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Alternative title: Identifizierung und Verifizierung neuartiger krankheitsverursachender Gene und Therapiemöglichkeiten für Patienten mit mitochondrialen Erkrankungen - Fokus auf ACAD9

Location: Deutsche Nationalbibliothek Frankfurt am Main

Extent: Online-Ressource

Language: Englisch

Notes: München, Technische Universität München, Dissertation, 2019

Keyword: Patients
Therapeutics
Mitochondrial pathology
Identification
Genes

Event: Veröffentlichung

(where): München

(who): Universitätsbibliothek der TU München

(when): 2019

Creator: Repp, Birgit

Contributor: Adamski, Jerzy
Witt, Heiko
Adamski, Jerzy

URN: urn:nbn:de:bvb:91-diss-20191022-1467589-1-2

Rights: Der Zugriff auf das Objekt ist unbeschränkt möglich.

Last update: 25.03.2025, 1:53 PM CET

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Associated

Repp, Birgit
Adamski, Jerzy
Witt, Heiko
Universitätsbibliothek der TU München

Time of origin

2019

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Identification and verification of novel disease-causing genes and therapy options for patients with mitochondrial disorders – Focus on ACAD9

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Other Objects (12)

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Rearranged DNA in mitochondrial DNA maintenance disorders

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A novel, pathogenic dinucleotide deletion in the mitochondrial MT-TY gene causing myasthenia-like features

Novel MT-ND gene variants causing adult-onset mitochondrial disease and isolated complex I deficiency

Sensory neuropathy-causing mutations in ATL3 affect ER–mitochondria contact sites and impair axonal mitochondrial distribution

Infections causing human cancer

Infections causing human cancer

Mutations in mitochondrial DNA causing tubulointerstitial kidney disease

Mutations in mitochondrial DNA causing tubulointerstitial kidney disease

Investigation of genes causing rare syndromic disorders during vertebrate development

Strategies to prioritize potentially disease-causing mutations in Mendelian disorders

Rearranged DNA in mitochondrial DNA maintenance disorders

A novel mechanism causing imbalance of mitochondrial fusion and fission in human myopathies

Role of apolipoprotein MIC26 in mitochondrial and metabolic disorders

A novel, pathogenic dinucleotide deletion in the mitochondrial MT-TY gene causing myasthenia-like features

Novel MT-ND gene variants causing adult-onset mitochondrial disease and isolated complex I deficiency

Sensory neuropathy-causing mutations in ATL3 affect ER–mitochondria contact sites and impair axonal mitochondrial distribution

Infections causing human cancer

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Mutations in mitochondrial DNA causing tubulointerstitial kidney disease

Mutations in mitochondrial DNA causing tubulointerstitial kidney disease

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Strategies to prioritize potentially disease-causing mutations in Mendelian disorders

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Sensory neuropathy-causing mutations in ATL3 affect ER–mitochondria contact sites and impair axonal mitochondrial distribution

Infections causing human cancer

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