Paroxysmal and non-paroxysmal dystonia in 3 patients with biallelic ECHS1 variants: Expanding the neurological spectrum and therapeutic approaches-Reference-Cited by-同舟云学术

Paroxysmal and non-paroxysmal dystonia in 3 patients with biallelic ECHS1 variants: Expanding the neurological spectrum and therapeutic approaches

Published:2020-11 Issue:11 Volume:63 Page:104046
ISSN:1769-7212
Container-title:European Journal of Medical Genetics
language:en
Short-container-title:European Journal of Medical Genetics

Author:

Illsinger Sabine,Korenke G. Christoph,Boesch Sylvia,Nocker Michael,Karall Daniela,Nuoffer Jean M.,Laugwitz Lucia,Mayr Johannes A.,Scholl-Bürgi Sabine,Freisinger Peter,Kowald Tobias,Kölker Stefan,Prokisch Holger,Haack Tobias B.

Funder

BMBF

Horizon2020

German Network for Mitochondrial Disorders

Publisher

Elsevier BV

Subject

Genetics (clinical),Genetics,General Medicine

Reference28 articles.

1. Phenomenology and classification of dystonia: a consensus update;Albanese;Mov. Disord.,2013

2. Application of the Phenomenex EZ:faasttrade mark amino acid analysis kit for rapid gas-chromatographic determination of concentrations of plasma tryptophan and its brain uptake competitors;Badawy;Amino Acids,2008

3. Lethal neonatal case and review of primary short-chain enoyl-CoA hydratase (SCEH) deficiency associated with secondary lymphocyte pyruvate dehydrogenase complex (PDC) deficiency;Bedoyan;Mol. Genet. Metabol.,2017

4. Paroxysmal dyskinesias;Bhatia;Mov. Disord.,2011

5. Semi-quantitative detection of a vanillactic acid/vanillylmandelic acid ratio in urine is a reliable diagnostic marker for aromatic L-amino acid decarboxylase deficiency;Brennenstuhl;Mol. Gene. Metabol.,2020

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1. Valine restriction extends survival in aDrosophilamodel of short-chain enoyl-CoA hydratase 1 (ECHS1) deficiency;2024-08-17

2. Strategic validation of variants of uncertain significance inECHS1genetic testing;Journal of Medical Genetics;2023-04-13

3. Neuroimaging in mitochondrial disease;Mitochondrial Diseases;2023

4. Isolated and combined dystonias: Update;Handbook of Clinical Neurology;2023

5. Loss of mitochondrial fatty acid β‐oxidation protein short‐chain Enoyl‐CoA hydratase disrupts oxidative phosphorylation protein complex stability and function;The FEBS Journal;2022-08-24