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MORC2 mutation causes severe spinal muscular atrophy-phenotype, cerebellar atrophy, and diaphragmatic paralysis.
Published in:
2016
By:
- Schottmann, Gudrun;
- Wagner, Christiane;
- Seifert, Franziska;
- Stenzel, Werner;
- Schuelke, Markus
Publication type:
Letter
Clinical, biochemical and genetic spectrum of 70 patients with ACAD9 deficiency: is riboflavin supplementation effective?
Published in:
2018
By:
- Repp, Birgit M.;
- Mastantuono, Elisa;
- Alston, Charlotte L.;
- Schiff, Manuel;
- Haack, Tobias B.;
- Rötig, Agnes;
- Ardissone, Anna;
- Lombès, Anne;
- Catarino, Claudia B.;
- Diodato, Daria;
- Schottmann, Gudrun;
- Poulton, Joanna;
- Burlina, Alberto;
- Jonckheere, An;
- Munnich, Arnold;
- Rolinski, Boris;
- Ghezzi, Daniele;
- Rokicki, Dariusz;
- Wellesley, Diana;
- Martinelli, Diego
Publication type:
journal article
Brain iron and metabolic abnormalities in C19orf12 mutation carriers: A 7.0 tesla MRI study in mitochondrial membrane protein-associated neurodegeneration.
Published in:
2020
By:
- Dusek, Petr;
- Mekle, Ralf;
- Skowronska, Marta;
- Acosta‐Cabronero, Julio;
- Huelnhagen, Till;
- Robinson, Simon Daniel;
- Schubert, Florian;
- Deschauer, Marcus;
- Els, Antje;
- Ittermann, Bernd;
- Schottmann, Gudrun;
- Madai, Vince I.;
- Paul, Friedemann;
- Klopstock, Thomas;
- Kmiec, Tomasz;
- Niendorf, Thoralf;
- Wuerfel, Jens;
- Schneider, Susanne A.;
- Acosta-Cabronero, Julio
Publication type:
journal article
Kyphoscoliosis peptidase ( KY) mutation causes a novel congenital myopathy with core targetoid defects.
Published in:
2016
By:
- Straussberg, Rachel;
- Schottmann, Gudrun;
- Sadeh, Menachem;
- Gill, Esther;
- Seifert, Franziska;
- Halevy, Ayelet;
- Qassem, Kaiyal;
- Rendu, John;
- van der Ven, Peter;
- Stenzel, Werner;
- Schuelke, Markus
Publication type:
Letter
A movement disorder with dystonia and ataxia caused by a mutation in the HIBCH gene.
Published in:
2016
By:
- Schottmann, Gudrun;
- Sarpong, Akosua;
- Lorenz, Carmen;
- Weinhold, Natalie;
- Gill, Esther;
- Teschner, Lisa;
- Ferdinandusse, Sacha;
- Wanders, Ronald J. A.;
- Prigione, Alessandro;
- Schuelke, Markus
Publication type:
journal article
Deficiency of ECHS1 causes mitochondrial encephalopathy with cardiac involvement.
Published in:
Annals of Clinical & Translational Neurology, 2015, v. 2, n. 5, p. 492, doi. 10.1002/acn3.189
By:
- Haack, Tobias B.;
- Jackson, Christopher B.;
- Murayama, Kei;
- Kremer, Laura S.;
- Schaller, André;
- Kotzaeridou, Urania;
- Vries, Maaike C.;
- Schottmann, Gudrun;
- Santra, Saikat;
- Büchner, Boriana;
- Wieland, Thomas;
- Graf, Elisabeth;
- Freisinger, Peter;
- Eggimann, Sandra;
- Ohtake, Akira;
- Okazaki, Yasushi;
- Kohda, Masakazu;
- Kishita, Yoshihito;
- Tokuzawa, Yoshimi;
- Sauer, Sascha
Publication type:
Article

Found: 6

MORC2 mutation causes severe spinal muscular atrophy-phenotype, cerebellar atrophy, and diaphragmatic paralysis.

Clinical, biochemical and genetic spectrum of 70 patients with ACAD9 deficiency: is riboflavin supplementation effective?

Brain iron and metabolic abnormalities in C19orf12 mutation carriers: A 7.0 tesla MRI study in mitochondrial membrane protein-associated neurodegeneration.

Kyphoscoliosis peptidase ( KY) mutation causes a novel congenital myopathy with core targetoid defects.

A movement disorder with dystonia and ataxia caused by a mutation in the HIBCH gene.

Deficiency of ECHS1 causes mitochondrial encephalopathy with cardiac involvement.