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Publications by Brunhilde Wirth

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

American Journal of Human Genetics

Genetics

2018

English

Biallelic Loss of Proprioception-Related PIEZO2 Causes Muscular Atrophy With Perinatal Respiratory Distress, Arthrogryposis, and Scoliosis

American Journal of Human Genetics

Genetics

2016

English

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

American Journal of Human Genetics

Genetics

2018

English

A Mutation in the 5′-Utr of IFITM5 Creates an In-Frame Start Codon and Causes Autosomal-Dominant Osteogenesis Imperfecta Type v With Hyperplastic Callus

American Journal of Human Genetics

Genetics

2012

English

NCALD Antisense Oligonucleotide Therapy in Addition to Nusinersen Further Ameliorates Spinal Muscular Atrophy in Mice

American Journal of Human Genetics

Genetics

2019

English

Commemoration of 15 Years ESHG SPC Member and Chair From 2009 to 2016

European Journal of Human Genetics

Genetics

2017

English

Infants Diagnosed With Spinal Muscular Atrophy and 4 SMN2 Copies Through Newborn Screening –Opportunity or Burden?

Journal of Neuromuscular Diseases

Neurology

2020

English

Molecular Analysis of Spinal Muscular Atrophy and Modification of the Phenotype by SMN2

English

Amanote Research

Discover open access scientific publications

Search, annotate, share and cite publications

Publications by Brunhilde Wirth

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

Biallelic Loss of Proprioception-Related PIEZO2 Causes Muscular Atrophy With Perinatal Respiratory Distress, Arthrogryposis, and Scoliosis

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

A Mutation in the 5′-Utr of IFITM5 Creates an In-Frame Start Codon and Causes Autosomal-Dominant Osteogenesis Imperfecta Type v With Hyperplastic Callus

NCALD Antisense Oligonucleotide Therapy in Addition to Nusinersen Further Ameliorates Spinal Muscular Atrophy in Mice

Commemoration of 15 Years ESHG SPC Member and Chair From 2009 to 2016

Infants Diagnosed With Spinal Muscular Atrophy and 4 SMN2 Copies Through Newborn Screening –Opportunity or Burden?

Molecular Analysis of Spinal Muscular Atrophy and Modification of the Phenotype by SMN2