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Article

Comprehensive analysis of the mutation spectrum in 301 German ALS families.

Journal of neurology, neurosurgery, and psychiatry - 1 Aug 2018

Müller Kathrin, Brenner David, Weydt Patrick, Meyer Thomas, Grehl Torsten, Petri Susanne, Grosskreutz Julian, Schuster Joachim, Volk Alexander E, Borck Guntram, Kubisch Christian, Klopstock Thomas, Zeller Daniel, Jablonka Sibylle, Sendtner Michael, Klebe Stephan, Knehr Antje, Günther Kornelia, Weis Joachim, Claeys Kristl G, Schrank Berthold, Sperfeld Anne-Dorte, Hübers Annemarie, Otto Markus, Dorst Johannes, Meitinger Thomas, Strom Tim M, Andersen Peter M, Ludolph Albert C, Weishaupt Jochen H

Abstract excerpt

OBJECTIVES: Recent advances in amyotrophic lateral sclerosis (ALS) genetics have revealed that mutations in any of more than 25 genes can cause ALS, mostly as an autosomal-dominant Mendelian trait. Detailed knowledge about the genetic architecture of ALS in a specific population will be important for genetic counselling but also for genotype-specific therapeutic interventions. METHODS: Here we combined fragment...

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Identifiers

PMID: 29650794
DOI: 10.1136/jnnp-2017-317611

Genes

FUS
SOD1
TARDBP
TBK1

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026.

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