Publications by authors named "Lucia Laugwitz"

10Publications

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

Eur J Med Genet 2020 Nov 26;63(11):104046. Epub 2020 Aug 26.

Institute of Medical Genetics and Applied Genomics, University of Tübingen, Tübingen, Germany; Institute of Human Genetics, Technische Universität München, Munich, Germany; Centre for Rare Diseases, University of Tuebingen, Tübingen, Germany.

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http://dx.doi.org/10.1016/j.ejmg.2020.104046DOI Listing
November 2020

Pontocerebellar hypoplasia type 11: Does the genetic defect determine timing of cerebellar pathology?

Eur J Med Genet 2020 Jul 28;63(7):103938. Epub 2020 Apr 28.

Institute of Medical Genetics and Applied Genomics, University of Tübingen, 72076, Tübingen, Germany; Centre for Rare Diseases, University of Tuebingen, 72076, Tübingen, Germany. Electronic address:

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http://dx.doi.org/10.1016/j.ejmg.2020.103938DOI Listing
July 2020

Isolated PREPL deficiency associated with congenital myasthenic syndrome-22.

Klin Padiatr 2018 09 18;230(5):281-283. Epub 2018 Jun 18.

Department of General Pediatrics, Heinrich-Heine-University, Duesseldorf, Germany.

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http://dx.doi.org/10.1055/a-0605-3659DOI Listing
September 2018