List of works - Jonathan Baets

A de novo gain-of-function mutation in SCN11A causes loss of pain perception

scientific article

Ascorbic acid for the treatment of Charcot-Marie-Tooth disease

scientific article

Clinical Evidence of Disease Anticipation in Families Segregating a C9orf72 Repeat Expansion

scientific article published on 13 February 2017

Clinical features of TBK1 carriers compared with C9orf72, GRN and non-mutation carriers in a Belgian cohort

scientific article published on 15 December 2015

Complicated spastic paraplegia in patients with AP5Z1 mutations (SPG48).

scientific article

Investigating the role of ALS genes CHCHD10 and TUBA4A in Belgian FTD-ALS spectrum patients

scientific article published on 21 December 2016

L239F founder mutation in GDAP1 is associated with a mild Charcot-Marie-Tooth type 4C4 (CMT4C4) phenotype

scientific article published on 16 March 2010

Loss of function mutations in HARS cause a spectrum of inherited peripheral neuropathies

scientific article

Missense mutations in the copper transporter gene ATP7A cause X-linked distal hereditary motor neuropathy

scientific article

Mutations in FAM134B, encoding a newly identified Golgi protein, cause severe sensory and autonomic neuropathy

scientific article

Mutations in the SPTLC2 subunit of serine palmitoyltransferase cause hereditary sensory and autonomic neuropathy type I

scientific article

No supportive evidence for TIA1 gene mutations in a European cohort of ALS-FTD spectrum patients

article

TBK1 Mutation Spectrum in an Extended European Patient Cohort with Frontotemporal Dementia and Amyotrophic Lateral Sclerosis

scientific article published on 23 December 2016

Transcriptional regulator PRDM12 is essential for human pain perception

scientific article

Truncating and missense mutations in IGHMBP2 cause Charcot-Marie Tooth disease type 2.

scientific article

Unraveling the genetic landscape of autosomal recessive Charcot-Marie-Tooth neuropathies using a homozygosity mapping approach

scientific article published on 18 September 2014

List of works by Jonathan Baets

A de novo gain-of-function mutation in SCN11A causes loss of pain perception

Ascorbic acid for the treatment of Charcot-Marie-Tooth disease

Clinical Evidence of Disease Anticipation in Families Segregating a C9orf72 Repeat Expansion

Clinical features of TBK1 carriers compared with C9orf72, GRN and non-mutation carriers in a Belgian cohort

Complicated spastic paraplegia in patients with AP5Z1 mutations (SPG48).

Investigating the role of ALS genes CHCHD10 and TUBA4A in Belgian FTD-ALS spectrum patients

L239F founder mutation in GDAP1 is associated with a mild Charcot-Marie-Tooth type 4C4 (CMT4C4) phenotype

Loss of function mutations in HARS cause a spectrum of inherited peripheral neuropathies

Missense mutations in the copper transporter gene ATP7A cause X-linked distal hereditary motor neuropathy

Mutations in FAM134B, encoding a newly identified Golgi protein, cause severe sensory and autonomic neuropathy

Mutations in the SPTLC2 subunit of serine palmitoyltransferase cause hereditary sensory and autonomic neuropathy type I

No supportive evidence for TIA1 gene mutations in a European cohort of ALS-FTD spectrum patients

TBK1 Mutation Spectrum in an Extended European Patient Cohort with Frontotemporal Dementia and Amyotrophic Lateral Sclerosis

Transcriptional regulator PRDM12 is essential for human pain perception

Truncating and missense mutations in IGHMBP2 cause Charcot-Marie Tooth disease type 2.

Unraveling the genetic landscape of autosomal recessive Charcot-Marie-Tooth neuropathies using a homozygosity mapping approach