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1-17 of 17
Authors: Thomas Meitinger
Journal Article
ACCEPTED MANUSCRIPT
Pleiotropic effects of MORC2 derive from its epigenetic signature
Brain, awaf159, https://doi.org/10.1093/brain/awaf159
Published: 30 April 2025
Journal Article
ACCEPTED MANUSCRIPT
Combined genomics and proteomics unveils elusive variants and vast aetiologic heterogeneity in dystonia
Brain, awaf059, https://doi.org/10.1093/brain/awaf059
Published: 12 February 2025
Journal Article
Blood DNA methylation provides an accurate biomarker of KMT2B-related dystonia and predicts onset
Brain, Volume 145, Issue 2, February 2022, Pages 644–654, https://doi.org/10.1093/brain/awab360
Published: 30 September 2021
Journal Article
MATR3 haploinsufficiency and early-onset neurodegeneration
Brain, Volume 144, Issue 9, September 2021, Page e72, https://doi.org/10.1093/brain/awab240
Published: 26 June 2021
Journal Article
Bi-allelic truncating mutations in VWA1 cause neuromyopathy
Brain, Volume 144, Issue 2, February 2021, Pages 574–583, https://doi.org/10.1093/brain/awaa418
Published: 18 January 2021
Journal Article
Defective phosphatidylethanolamine biosynthesis leads to a broad ataxia-spasticity spectrum
Brain, Volume 144, Issue 3, March 2021, Page e30, https://doi.org/10.1093/brain/awaa442
Published: 17 January 2021
Journal Article
De novo stop-loss variants in CLDN11 cause hypomyelinating leukodystrophy
Brain, Volume 144, Issue 2, February 2021, Pages 411–419, https://doi.org/10.1093/brain/awaa410
Published: 12 December 2020
Journal Article
Reply: Adult-onset distal spinal muscular atrophy: a new phenotype associated with KIF5A mutations
Brain, Volume 142, Issue 12, December 2019, Page e67, https://doi.org/10.1093/brain/awz306
Published: 15 October 2019
Journal Article
A biallelic mutation links MYORG to autosomal-recessive primary familial brain calcification
Brain, Volume 142, Issue 2, February 2019, Page e4, https://doi.org/10.1093/brain/awy343
Published: 12 January 2019
Journal Article
Hot-spot KIF5A mutations cause familial ALS
Brain, Volume 141, Issue 3, March 2018, Pages 688–697, https://doi.org/10.1093/brain/awx370
Published: 12 January 2018
Journal Article
CAD mutations and uridine-responsive epileptic encephalopathy
Brain, Volume 140, Issue 2, February 2017, Pages 279–286, https://doi.org/10.1093/brain/aww300
Published: 21 December 2016
Journal Article
NEK1 mutations in familial amyotrophic lateral sclerosis
Brain, Volume 139, Issue 5, May 2016, Page e28, https://doi.org/10.1093/brain/aww033
Published: 05 March 2016
Journal Article
Human thioredoxin 2 deficiency impairs mitochondrial redox homeostasis and causes early-onset neurodegeneration
Brain, Volume 139, Issue 2, February 2016, Pages 346–354, https://doi.org/10.1093/brain/awv350
Published: 01 December 2015
Journal Article
Screening for CHCHD10 mutations in a large cohort of sporadic ALS patients: no evidence for pathogenicity of the p.P34S variant
Brain, Volume 139, Issue 2, February 2016, Page e8, https://doi.org/10.1093/brain/awv218
Published: 11 September 2015
Journal Article
Two novel mutations in conserved codons indicate that CHCHD10 is a gene associated with motor neuron disease Get access
Brain, Volume 137, Issue 12, December 2014, Page e309, https://doi.org/10.1093/brain/awu227
Published: 09 August 2014
Journal Article
Infantile Leigh-like syndrome caused by SLC19A3 mutations is a treatable disease Get access
Brain, Volume 137, Issue 9, September 2014, Page e295, https://doi.org/10.1093/brain/awu128
Published: 30 May 2014
Journal Article
Beta-propeller protein-associated neurodegeneration: a new X-linked dominant disorder with brain iron accumulation Get access
Brain, Volume 136, Issue 6, June 2013, Pages 1708–1717, https://doi.org/10.1093/brain/awt095
Published: 17 May 2013
