about
Ascorbic acid for the treatment of Charcot-Marie-Tooth diseaseMutations in the SPTLC2 subunit of serine palmitoyltransferase cause hereditary sensory and autonomic neuropathy type IMutations in FAM134B, encoding a newly identified Golgi protein, cause severe sensory and autonomic neuropathyTranscriptional regulator PRDM12 is essential for human pain perceptionMissense mutations in the copper transporter gene ATP7A cause X-linked distal hereditary motor neuropathyLoss of function mutations in HARS cause a spectrum of inherited peripheral neuropathies.Complicated spastic paraplegia in patients with AP5Z1 mutations (SPG48).A de novo gain-of-function mutation in SCN11A causes loss of pain perceptionUnraveling the genetic landscape of autosomal recessive Charcot-Marie-Tooth neuropathies using a homozygosity mapping approach.TBK1 Mutation Spectrum in an Extended European Patient Cohort with Frontotemporal Dementia and Amyotrophic Lateral Sclerosis.
P50
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P50
description
hulumtues
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onderzoeker
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researcher
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հետազոտող
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name
Jonathan Baets
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Jonathan Baets
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Jonathan Baets
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Jonathan Baets
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Jonathan Baets
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type
label
Jonathan Baets
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Jonathan Baets
@en
Jonathan Baets
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Jonathan Baets
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Jonathan Baets
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prefLabel
Jonathan Baets
@ast
Jonathan Baets
@en
Jonathan Baets
@es
Jonathan Baets
@nl
Jonathan Baets
@sl