Lista de obras - Vincent Timmerman - Dominio Público Uruguay

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

artículo científico publicado en 2013

Charcot-Marie-Tooth causing HSPB1 mutations increase Cdk5-mediated phosphorylation of neurofilaments

scientific journal article

DNA/RNA helicase gene mutations in a form of juvenile amyotrophic lateral sclerosis (ALS4)

artículo científico publicado en 2004

Disrupted function and axonal distribution of mutant tyrosyl-tRNA synthetase in dominant intermediate Charcot-Marie-Tooth neuropathy

artículo científico publicado en 2006

Dominant intermediate Charcot-Marie-Tooth type C maps to chromosome 1p34-p35

artículo científico publicado en 2003

Dominant mutations in the cation channel gene transient receptor potential vanilloid 4 cause an unusual spectrum of neuropathies

artículo científico publicado en 2010

Dominant mutations in the tyrosyl-tRNA synthetase gene recapitulate in Drosophila features of human Charcot-Marie-Tooth neuropathy

artículo científico publicado en 2009

Genomic organization and mutation analysis of three candidate genes for hereditary neuralgic amyotrophy

artículo científico publicado en 2004

HSPB1 facilitates the formation of non-centrosomal microtubules

artículo científico publicado en 2013

Heterozygous missense mutations in BSCL2 are associated with distal hereditary motor neuropathy and Silver syndrome

artículo científico publicado en 2004

Hot-spot residue in small heat-shock protein 22 causes distal motor neuropathy

artículo científico publicado en 2004

Identification of novel GDAP1 mutations causing autosomal recessive Charcot-Marie-Tooth disease

artículo científico publicado en 2003

Increased monomerization of mutant HSPB1 leads to protein hyperactivity in Charcot-Marie-Tooth neuropathy

scientific journal article

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

artículo científico publicado en 2010

Molecular defects in the motor adaptor BICD2 cause proximal spinal muscular atrophy with autosomal-dominant inheritance

artículo científico publicado en 2013

Mutation analysis of 12 candidate genes for distal hereditary motor neuropathy type II (distal HMN II) linked to 12q24.3

artículo científico publicado en 2002

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

artículo científico publicado en 2009

Mutations in SEPT9 cause hereditary neuralgic amyotrophy

artículo científico publicado en 2005

Mutations in a gene encoding a novel SH3/TPR domain protein cause autosomal recessive Charcot-Marie-Tooth type 4C neuropathy

artículo científico publicado en 2003

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

artículo científico publicado en 2010

Mutations in the pleckstrin homology domain of dynamin 2 cause dominant intermediate Charcot-Marie-Tooth disease

artículo científico publicado en 2005

Peripheral nerve demyelination caused by a mutant Rho GTPase guanine nucleotide exchange factor, frabin/FGD4

artículo científico publicado en 2007

Recessive mutations in SLC13A5 result in a loss of citrate transport and cause neonatal epilepsy, developmental delay and teeth hypoplasia

artículo científico publicado en 2015

SIMPLE mutation in demyelinating neuropathy and distribution in sciatic nerve

artículo científico publicado en 2004

Slowed conduction and thin myelination of peripheral nerves associated with mutant rho Guanine-nucleotide exchange factor 10

artículo científico publicado en 2003

The hnRNP family: insights into their role in health and disease

artículo científico publicado en 2016

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

artículo científico publicado en 2014

Lista de obras de Vincent Timmerman

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

Charcot-Marie-Tooth causing HSPB1 mutations increase Cdk5-mediated phosphorylation of neurofilaments

DNA/RNA helicase gene mutations in a form of juvenile amyotrophic lateral sclerosis (ALS4)

Disrupted function and axonal distribution of mutant tyrosyl-tRNA synthetase in dominant intermediate Charcot-Marie-Tooth neuropathy

Dominant intermediate Charcot-Marie-Tooth type C maps to chromosome 1p34-p35

Dominant mutations in the cation channel gene transient receptor potential vanilloid 4 cause an unusual spectrum of neuropathies

Dominant mutations in the tyrosyl-tRNA synthetase gene recapitulate in Drosophila features of human Charcot-Marie-Tooth neuropathy

Genomic organization and mutation analysis of three candidate genes for hereditary neuralgic amyotrophy

HSPB1 facilitates the formation of non-centrosomal microtubules

Heterozygous missense mutations in BSCL2 are associated with distal hereditary motor neuropathy and Silver syndrome

Hot-spot residue in small heat-shock protein 22 causes distal motor neuropathy

Identification of novel GDAP1 mutations causing autosomal recessive Charcot-Marie-Tooth disease

Increased monomerization of mutant HSPB1 leads to protein hyperactivity in Charcot-Marie-Tooth neuropathy

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

Molecular defects in the motor adaptor BICD2 cause proximal spinal muscular atrophy with autosomal-dominant inheritance

Mutation analysis of 12 candidate genes for distal hereditary motor neuropathy type II (distal HMN II) linked to 12q24.3

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

Mutations in SEPT9 cause hereditary neuralgic amyotrophy

Mutations in a gene encoding a novel SH3/TPR domain protein cause autosomal recessive Charcot-Marie-Tooth type 4C neuropathy

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

Mutations in the pleckstrin homology domain of dynamin 2 cause dominant intermediate Charcot-Marie-Tooth disease

Peripheral nerve demyelination caused by a mutant Rho GTPase guanine nucleotide exchange factor, frabin/FGD4

Recessive mutations in SLC13A5 result in a loss of citrate transport and cause neonatal epilepsy, developmental delay and teeth hypoplasia

SIMPLE mutation in demyelinating neuropathy and distribution in sciatic nerve

Slowed conduction and thin myelination of peripheral nerves associated with mutant rho Guanine-nucleotide exchange factor 10

The hnRNP family: insights into their role in health and disease

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