List of works - Bernd Rautenstrauss

A new phenotype of brain iron accumulation with dystonia, optic atrophy, and peripheral neuropathy

scientific article published on 16 April 2012

A novel mutation in CACNA1A associated with hemiplegic migraine, cerebellar dysfunction and late-onset cognitive decline.

scientific article published on 28 October 2010

A novel mutation of myelin protein zero associated with late-onset predominantly axonal Charcot-Marie-Tooth disease

scientific article published on 06 January 2012

A rat model of Charcot-Marie-Tooth disease 1A recapitulates disease variability and supplies biomarkers of axonal loss in patients.

scientific article published on 20 December 2011

Characterization of two mutations in the SPTLC1 subunit of serine palmitoyltransferase associated with hereditary sensory and autonomic neuropathy type I.

scientific article published on 24 February 2011

Charcot-Marie-Tooth neuropathy due to a novel EGR2 gene mutation with mild phenotype--usefulness of human mapping chip linkage analysis in a Czech family

scientific article published on 28 April 2012

Clinical utility gene card for: HMSN/HNPP HMSN types 1, 2, 3, 6 (CMT1,2,4, DSN, CHN, GAN, CCFDN, HNA); HNPP.

scientific article published on 26 May 2010

Evidence for RPGRIP1 gene as risk factor for primary open angle glaucoma

scientific article

Facioscapulohumeral muscular dystrophy and Charcot-Marie-Tooth neuropathy 1A - evidence for "double trouble" overlapping syndromes

scientific article

Genetic and phenotypic variability of optic neuropathies.

scientific article published on April 2013

Hemiplegic migraine with reversible cerebral vasoconstriction caused by ATP1A2 mutations

scientific article published on 3 July 2013

Heterozygous NTF4 mutations impairing neurotrophin-4 signaling in patients with primary open-angle glaucoma

scientific article

Heterozygous loss-of-function variants in CYP1B1 predispose to primary open-angle glaucoma

scientific article published on 30 July 2009

High frequency of mutations in the PIK3CA gene helical and kinase coding regions in a group of Iranian patients with high-grade glioblastomas: five novel mutations

scientific article published on 25 October 2011

High post surgical opioid requirements in Crohn's disease are not due to a general change in pain sensitivity

scientific article

Identification of the variant Ala335Val of MED25 as responsible for CMT2B2: molecular data, functional studies of the SH3 recognition motif and correlation between wild-type MED25 and PMP22 RNA levels in CMT1A animal models

scientific article

Identification of the variant Ala335Val of MED25 as responsible for CMT2B2: molecular data, functional studies of the SH3 recognition motif and correlation between wild-type MED25 and PMP22 RNA levels in CMT1A animal models

article

Lack of genetic association of neutral endopeptidase (NEP) with complex regional pain syndrome (CRPS)

scientific article published on 25 January 2010

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

scientific article

MFN2 mutations cause compensatory mitochondrial DNA proliferation

scientific article published on 4 April 2012

Mechanisms for nonrecurrent genomic rearrangements associated with CMT1A or HNPP: rare CNVs as a cause for missing heritability

scientific article

Multiple de novo copy number variations in two subjects with developmental problems and multiple congenital anomalies

scientific article published in October 2012

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

scientific article

Mutations in the LMNA gene do not cause axonal CMT in Czech patients.

scientific article published on 8 May 2009

Phenotypic Variability in a Large Czech Family with a Dynamin 2–Associated Charcot-Marie-Tooth Neuropathy

article

Targeting inherited peripheral neuropathies in the postgenomic era ⬇️

scientific article published on July 13, 2011

The instability of the BTB-KELCH protein Gigaxonin causes Giant Axonal Neuropathy and constitutes a new penetrant and specific diagnostic test

scientific article

Tracing myelin protein zero (P0) in vivo by construction of P0-GFP fusion proteins

scientific article

Transcriptional regulator PRDM12 is essential for human pain perception

scientific article

List of works by Bernd Rautenstrauss

A new phenotype of brain iron accumulation with dystonia, optic atrophy, and peripheral neuropathy

A novel mutation in CACNA1A associated with hemiplegic migraine, cerebellar dysfunction and late-onset cognitive decline.

A novel mutation of myelin protein zero associated with late-onset predominantly axonal Charcot-Marie-Tooth disease

A rat model of Charcot-Marie-Tooth disease 1A recapitulates disease variability and supplies biomarkers of axonal loss in patients.

Characterization of two mutations in the SPTLC1 subunit of serine palmitoyltransferase associated with hereditary sensory and autonomic neuropathy type I.

Charcot-Marie-Tooth neuropathy due to a novel EGR2 gene mutation with mild phenotype--usefulness of human mapping chip linkage analysis in a Czech family

Clinical utility gene card for: HMSN/HNPP HMSN types 1, 2, 3, 6 (CMT1,2,4, DSN, CHN, GAN, CCFDN, HNA); HNPP.

Evidence for RPGRIP1 gene as risk factor for primary open angle glaucoma

Facioscapulohumeral muscular dystrophy and Charcot-Marie-Tooth neuropathy 1A - evidence for "double trouble" overlapping syndromes

Genetic and phenotypic variability of optic neuropathies.

Hemiplegic migraine with reversible cerebral vasoconstriction caused by ATP1A2 mutations

Heterozygous NTF4 mutations impairing neurotrophin-4 signaling in patients with primary open-angle glaucoma

Heterozygous loss-of-function variants in CYP1B1 predispose to primary open-angle glaucoma

High frequency of mutations in the PIK3CA gene helical and kinase coding regions in a group of Iranian patients with high-grade glioblastomas: five novel mutations

High post surgical opioid requirements in Crohn's disease are not due to a general change in pain sensitivity

Identification of the variant Ala335Val of MED25 as responsible for CMT2B2: molecular data, functional studies of the SH3 recognition motif and correlation between wild-type MED25 and PMP22 RNA levels in CMT1A animal models

Identification of the variant Ala335Val of MED25 as responsible for CMT2B2: molecular data, functional studies of the SH3 recognition motif and correlation between wild-type MED25 and PMP22 RNA levels in CMT1A animal models

Lack of genetic association of neutral endopeptidase (NEP) with complex regional pain syndrome (CRPS)

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

MFN2 mutations cause compensatory mitochondrial DNA proliferation

Mechanisms for nonrecurrent genomic rearrangements associated with CMT1A or HNPP: rare CNVs as a cause for missing heritability

Multiple de novo copy number variations in two subjects with developmental problems and multiple congenital anomalies

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

Mutations in the LMNA gene do not cause axonal CMT in Czech patients.

Phenotypic Variability in a Large Czech Family with a Dynamin 2–Associated Charcot-Marie-Tooth Neuropathy

Targeting inherited peripheral neuropathies in the postgenomic era ⬇️

The instability of the BTB-KELCH protein Gigaxonin causes Giant Axonal Neuropathy and constitutes a new penetrant and specific diagnostic test

Tracing myelin protein zero (P0) in vivo by construction of P0-GFP fusion proteins

Transcriptional regulator PRDM12 is essential for human pain perception