List of works - Brunhilde Wirth

A new polymorphic probe on 5q11.2-13.3: ECB306Bg12.1 (D5S215) ⬇️

scientific article published on March 11, 1992

Biallelic Mutations in ADPRHL2, Encoding ADP-Ribosylhydrolase 3, Lead to a Degenerative Pediatric Stress-Induced Epileptic Ataxia Syndrome

Biallelic variant in AGTPBP1 causes infantile lower motor neuron degeneration and cerebellar atrophy

scientific article published on 18 May 2019

De novo rearrangements found in 2% of index patients with spinal muscular atrophy: mutational mechanisms, parental origin, mutation rate, and implications for genetic counseling

scientific article

Evaluation of potential effects of Plastin 3 overexpression and low-dose SMN-antisense oligonucleotides on putative biomarkers in spinal muscular atrophy mice

scientific article published in PLoS ONE

Evidence for a modifying pathway in SMA discordant families: reduced SMN level decreases the amount of its interacting partners and Htra2-beta1 ⬇️

scientific article (publication date: December 2003)

Fine genetic localization of the gene for autosomal dominant polycystic kidney disease (PKD1) with respect to physically mapped markers

scientific article published on May 1, 1992

Histone deacetylase inhibitors: possible implications for neurodegenerative disorders

scientific article

Identification of a candidate modifying gene for spinal muscular atrophy by comparative genomics

scientific article

Mitochondrial defects in the respiratory complex I contribute to impaired translational initiation via ROS and energy homeostasis in SMA motor neurons

scientific article published on 22 December 2020

Prenatal prediction in families with autosomal recessive proximal spinal muscular atrophy (5q11.2–q13.3): Molecular genetics and clinical experience in 109 cases ⬇️

scientific article published on 01 May 1995

Quantitative analysis of survival motor neuron copies: identification of subtle SMN1 mutations in patients with spinal muscular atrophy, genotype-phenotype correlation, and implications for genetic counseling

scientific article

Spinal muscular atrophy: state-of-the-art and therapeutic perspectives

scientific article

TGS1 impacts snRNA 3′-end processing, ameliorates <i>survival motor neuron</i>-dependent neurological phenotypes <i>in vivo</i> and prevents neurodegeneration

scientific article published in 2022

Targeted sequencing with expanded gene profile enables high diagnostic yield in non-5q-spinal muscular atrophies

article

The gene for autosomal dominant polycystic kidney disease lies in a 750-kb CpG-rich region

scientific article

The zinc finger protein ZNF297B interacts with BDP1, a subunit of TFIIIB.

scientific article

List of works by Brunhilde Wirth

A new polymorphic probe on 5q11.2-13.3: ECB306Bg12.1 (D5S215) ⬇️

Biallelic Mutations in ADPRHL2, Encoding ADP-Ribosylhydrolase 3, Lead to a Degenerative Pediatric Stress-Induced Epileptic Ataxia Syndrome

Biallelic Mutations in ADPRHL2, Encoding ADP-Ribosylhydrolase 3, Lead to a Degenerative Pediatric Stress-Induced Epileptic Ataxia Syndrome

Biallelic variant in AGTPBP1 causes infantile lower motor neuron degeneration and cerebellar atrophy

De novo rearrangements found in 2% of index patients with spinal muscular atrophy: mutational mechanisms, parental origin, mutation rate, and implications for genetic counseling

Evaluation of potential effects of Plastin 3 overexpression and low-dose SMN-antisense oligonucleotides on putative biomarkers in spinal muscular atrophy mice

Evidence for a modifying pathway in SMA discordant families: reduced SMN level decreases the amount of its interacting partners and Htra2-beta1 ⬇️

Fine genetic localization of the gene for autosomal dominant polycystic kidney disease (PKD1) with respect to physically mapped markers

Histone deacetylase inhibitors: possible implications for neurodegenerative disorders

Identification of a candidate modifying gene for spinal muscular atrophy by comparative genomics

Mitochondrial defects in the respiratory complex I contribute to impaired translational initiation via ROS and energy homeostasis in SMA motor neurons

Prenatal prediction in families with autosomal recessive proximal spinal muscular atrophy (5q11.2–q13.3): Molecular genetics and clinical experience in 109 cases ⬇️

Quantitative analysis of survival motor neuron copies: identification of subtle SMN1 mutations in patients with spinal muscular atrophy, genotype-phenotype correlation, and implications for genetic counseling

Spinal muscular atrophy: state-of-the-art and therapeutic perspectives

TGS1 impacts snRNA 3′-end processing, ameliorates <i>survival motor neuron</i>-dependent neurological phenotypes <i>in vivo</i> and prevents neurodegeneration

Targeted sequencing with expanded gene profile enables high diagnostic yield in non-5q-spinal muscular atrophies

The gene for autosomal dominant polycystic kidney disease lies in a 750-kb CpG-rich region

The zinc finger protein ZNF297B interacts with BDP1, a subunit of TFIIIB.