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Publications by Claudia Krahn-Peper

Bi-Allelic ADPRHL2 Mutations Cause Neurodegeneration With Developmental Delay, Ataxia, and Axonal Neuropathy

American Journal of Human Genetics

Genetics

2018

English

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Mutations in XRCC1 Cause Cerebellar Ataxia and Peripheral Neuropathy

Journal of Neurology, Neurosurgery and Psychiatry

English

Spinocerebellar Ataxia With Axonal Neuropathy Type 1

2020

English

Bi-Allelic CCDC47 Variants Cause a Disorder Characterized by Woolly Hair, Liver Dysfunction, Dysmorphic Features, and Global Developmental Delay

American Journal of Human Genetics

Genetics

2018

English

Bi-Allelic Mutations in LSS, Encoding Lanosterol Synthase, Cause Autosomal-Recessive Hypotrichosis Simplex

American Journal of Human Genetics

Genetics

2018

English

Bi-Allelic CSF1R Mutations Cause Skeletal Dysplasia of Dysosteosclerosis-Pyle Disease Spectrum and Degenerative Encephalopathy With Brain Malformation

American Journal of Human Genetics

Genetics

2019

English

Bi-Allelic Mutations in FAM149B1 Cause Abnormal Primary Cilium and a Range of Ciliopathy Phenotypes in Humans

American Journal of Human Genetics

Genetics

2019

English

SETX Mutations Are a Frequent Genetic Cause of Juvenile and Adult Onset Cerebellar Ataxia With Neuropathy and Elevated Serum Alpha-Fetoprotein

Orphanet Journal of Rare Diseases

English

Periaxin Mutations Cause Recessive Dejerine-Sottas Neuropathy

American Journal of Human Genetics

Genetics

2001

English

Bi-Allelic Missense ABCA3 Mutations in a Patient With Childhood ILD Who Reached Adulthood

English

Amanote Research

Discover open access scientific publications

Search, annotate, share and cite publications

Publications by Claudia Krahn-Peper

Bi-Allelic ADPRHL2 Mutations Cause Neurodegeneration With Developmental Delay, Ataxia, and Axonal Neuropathy

Related publications

Mutations in XRCC1 Cause Cerebellar Ataxia and Peripheral Neuropathy

Spinocerebellar Ataxia With Axonal Neuropathy Type 1

Bi-Allelic CCDC47 Variants Cause a Disorder Characterized by Woolly Hair, Liver Dysfunction, Dysmorphic Features, and Global Developmental Delay

Bi-Allelic Mutations in LSS, Encoding Lanosterol Synthase, Cause Autosomal-Recessive Hypotrichosis Simplex

Bi-Allelic CSF1R Mutations Cause Skeletal Dysplasia of Dysosteosclerosis-Pyle Disease Spectrum and Degenerative Encephalopathy With Brain Malformation

Bi-Allelic Mutations in FAM149B1 Cause Abnormal Primary Cilium and a Range of Ciliopathy Phenotypes in Humans

SETX Mutations Are a Frequent Genetic Cause of Juvenile and Adult Onset Cerebellar Ataxia With Neuropathy and Elevated Serum Alpha-Fetoprotein

Periaxin Mutations Cause Recessive Dejerine-Sottas Neuropathy

Bi-Allelic Missense ABCA3 Mutations in a Patient With Childhood ILD Who Reached Adulthood