Search filters

Authors whose works are in public domain in at least one jurisdiction

List of works by Holger Hengel

A previously identified missense mutation in STYXL1 is likely benign

scientific article published on 22 November 2018

Bi-allelic loss-of-function variants in BCAS3 cause a syndromic neurodevelopmental disorder

scientific article published on 21 May 2021

Body Mass Index Decline Is Related to Spinocerebellar Ataxia Disease Progression

First-line exome sequencing in Palestinian and Israeli Arabs with neurological disorders is efficient and facilitates disease gene discovery

scientific article published on 25 March 2020

GPT2 mutations cause developmental encephalopathy with microcephaly and features of complicated hereditary spastic paraplegia

scientific article published on 10 July 2018

Long-term disease progression in spinocerebellar ataxia types 1, 2, 3, and 6: a longitudinal cohort study

scientific article published on 11 September 2015

Long-term evolution of patient-reported outcome measures in spinocerebellar ataxias

Loss-of-function mutations in UDP-Glucose 6-Dehydrogenase cause recessive developmental epileptic encephalopathy

scientific article published on 30 January 2020

PolyQ-expanded ataxin-3 protein levels in peripheral blood mononuclear cells correlate with clinical parameters in SCA3: a pilot study

scientific article published on 26 October 2020

Survival in patients with spinocerebellar ataxia types 1, 2, 3, and 6 (EUROSCA): a longitudinal cohort study

scientific article published on 13 March 2018

Paulina is supported by:

About Paulina

Help