List of works - Sarah Wiethoff

A loss-of-function homozygous mutation in DDX59 implicates a conserved DEAD-box RNA helicase in nervous system development and function.

scientific article published on 11 November 2017

A rare PANK2 deletion in the first north African patient affected with pantothenate kinase associated neurodegeneration

scientific article published on 19 December 2019

ADCY5 mutations are another cause of benign hereditary chorea

scientific article

Assessment of functional and morphometric endpoints in patients with non-arteritic anterior ischemic optic neuropathy (NAION).

scientific article

Biallelic mutations in neurofascin cause neurodevelopmental impairment and peripheral demyelination

Confirmation of TACO1 as a Leigh Syndrome Disease Gene in Two Additional Families

scientific article published on 16 May 2020

Corrigendum: Mutations in the histone methyltransferase gene KMT2B cause complex early-onset dystonia

scientific article published in May 2017

DNA repair pathways underlie a common genetic mechanism modulating onset in polyglutamine diseases

scientific article published on 04 April 2016

De Novo Mutations in PDE10A Cause Childhood-Onset Chorea with Bilateral Striatal Lesions

scientific article published on April 2016

Decreased retinal sensitivity and loss of retinal nerve fibers in multiple system atrophy

scientific article published on 10 August 2012

Defects in the CAPN1 Gene Result in Alterations in Cerebellar Development and Cerebellar Ataxia in Mice and Humans

scientific article published on 15 June 2016

Defining diagnostic cutoffs in neurological patients for serum very long chain fatty acids (VLCFA) in genetically confirmed X-Adrenoleukodystrophy

scientific article published on 15 September 2020

Gene co-expression networks shed light into diseases of brain iron accumulation

scientific article

Genetic and clinical characteristics of NEFL-related Charcot-Marie-Tooth disease.

scientific article published on 13 May 2017

Genetic and phenotypic characterization of complex hereditary spastic paraplegia

scientific article published on 23 May 2016

Genotype-phenotype correlations, dystonia and disease progression in spinocerebellar ataxia type 14.

scientific article published on 30 March 2018

Hereditary spastic paraplegia type 5: natural history, biomarkers and a randomized controlled trial

scientific article published on 6 November 2017

Hereditary spastic paraplegia: Clinicogenetic lessons from 608 patients

scientific article

Homozygous mutations in VAMP1 cause a presynaptic congenital myasthenic syndrome

scientific article

Mutations in XRCC1 cause cerebellar ataxia and peripheral neuropathy

scientific article published on 22 February 2018

Mutations in the histone methyltransferase gene KMT2B cause complex early-onset dystonia.

scientific article

Neural Conversion and Patterning of Human Pluripotent Stem Cells: A Developmental Perspective

scientific article

Neurodegeneration With Brain Iron Accumulation (NBIA) Syndromes Presenting With Late-Onset Craniocervical Dystonia: An Illustrative Case Series

scientific article published on 18 July 2016

Novel single base-pair deletion in exon 1 of XK gene leading to McLeod syndrome with chorea, muscle wasting, peripheral neuropathy, acanthocytosis and haemolysis

scientific article published on February 2014

PRUNE is crucial for normal brain development and mutated in microcephaly with neurodevelopmental impairment

scientific article

Pure Cerebellar Ataxia with Homozygous Mutations in the PNPLA6 Gene.

scientific article published on 19 March 2016

Quick Flicks: Association of Paroxysmal Kinesigenic Dyskinesia and Tics.

scientific article

Reply

Reply: Concentric demyelination pattern in COVID-19-associated acute haemorrhagic leukoencephalitis: a lurking catastrophe?

scientific article published on 16 December 2020

Retinal nerve fibre layer loss in hereditary spastic paraplegias is restricted to complex phenotypes

scientific article

Sequencing analysis of the SCA6 CAG expansion excludes an influence of repeat interruptions on disease onset.

scientific article

The emerging spectrum of COVID-19 neurology: clinical, radiological and laboratory findings

scientific article published on 08 July 2020

Using human induced pluripotent stem cells to model cerebellar disease: hope and hype.

scientific article

iPSC-derived neuronal models of PANK2-associated neurodegeneration reveal mitochondrial dysfunction contributing to early disease ⬇️

scientific article published on September 2017

List of works by Sarah Wiethoff

A loss-of-function homozygous mutation in DDX59 implicates a conserved DEAD-box RNA helicase in nervous system development and function.

A rare PANK2 deletion in the first north African patient affected with pantothenate kinase associated neurodegeneration

ADCY5 mutations are another cause of benign hereditary chorea

Assessment of functional and morphometric endpoints in patients with non-arteritic anterior ischemic optic neuropathy (NAION).

Biallelic mutations in neurofascin cause neurodevelopmental impairment and peripheral demyelination

Confirmation of TACO1 as a Leigh Syndrome Disease Gene in Two Additional Families

Corrigendum: Mutations in the histone methyltransferase gene KMT2B cause complex early-onset dystonia

DNA repair pathways underlie a common genetic mechanism modulating onset in polyglutamine diseases

De Novo Mutations in PDE10A Cause Childhood-Onset Chorea with Bilateral Striatal Lesions

Decreased retinal sensitivity and loss of retinal nerve fibers in multiple system atrophy

Defects in the CAPN1 Gene Result in Alterations in Cerebellar Development and Cerebellar Ataxia in Mice and Humans

Defining diagnostic cutoffs in neurological patients for serum very long chain fatty acids (VLCFA) in genetically confirmed X-Adrenoleukodystrophy

Gene co-expression networks shed light into diseases of brain iron accumulation

Genetic and clinical characteristics of NEFL-related Charcot-Marie-Tooth disease.

Genetic and phenotypic characterization of complex hereditary spastic paraplegia

Genotype-phenotype correlations, dystonia and disease progression in spinocerebellar ataxia type 14.

Hereditary spastic paraplegia type 5: natural history, biomarkers and a randomized controlled trial

Hereditary spastic paraplegia: Clinicogenetic lessons from 608 patients

Homozygous mutations in VAMP1 cause a presynaptic congenital myasthenic syndrome

Mutations in XRCC1 cause cerebellar ataxia and peripheral neuropathy

Mutations in the histone methyltransferase gene KMT2B cause complex early-onset dystonia.

Neural Conversion and Patterning of Human Pluripotent Stem Cells: A Developmental Perspective

Neurodegeneration With Brain Iron Accumulation (NBIA) Syndromes Presenting With Late-Onset Craniocervical Dystonia: An Illustrative Case Series

Novel single base-pair deletion in exon 1 of XK gene leading to McLeod syndrome with chorea, muscle wasting, peripheral neuropathy, acanthocytosis and haemolysis

PRUNE is crucial for normal brain development and mutated in microcephaly with neurodevelopmental impairment

Pure Cerebellar Ataxia with Homozygous Mutations in the PNPLA6 Gene.

Quick Flicks: Association of Paroxysmal Kinesigenic Dyskinesia and Tics.

Reply

Reply: Concentric demyelination pattern in COVID-19-associated acute haemorrhagic leukoencephalitis: a lurking catastrophe?

Retinal nerve fibre layer loss in hereditary spastic paraplegias is restricted to complex phenotypes

Sequencing analysis of the SCA6 CAG expansion excludes an influence of repeat interruptions on disease onset.

The emerging spectrum of COVID-19 neurology: clinical, radiological and laboratory findings

Using human induced pluripotent stem cells to model cerebellar disease: hope and hype.

iPSC-derived neuronal models of PANK2-associated neurodegeneration reveal mitochondrial dysfunction contributing to early disease ⬇️