List of works - Rebecca Schüle

"Pseudodominant inheritance" of ataxia with ocular apraxia type 2 (AOA2).

scientific article

A Potential Role for a Genetic Variation of AKAP5 in Human Aggression and Anger Control

scientific article published on 29 December 2011

A high-throughput resequencing microarray for autosomal dominant spastic paraplegia genes

article

A recurrent mutation in KCNA2 as a novel cause of hereditary spastic paraplegia and ataxia

scientific article published on 20 August 2016

A total of 220 patients with autosomal dominant spastic paraplegia do not display mutations in the SLC33A1 gene (SPG42).

scientific article

ADHD candidate gene (DRD4 exon III) affects inhibitory control in a healthy sample

scientific article

AP5Z1/SPG48 frequency in autosomal recessive and sporadic spastic paraplegia

scientific article

Abnormal Paraplegin Expression in Swollen Neurites, τ- and α-Synuclein Pathology in a Case of Hereditary Spastic Paraplegia SPG7 with an Ala510Val Mutation

scientific article

Absence of BiP Co-chaperone DNAJC3 Causes Diabetes Mellitus and Multisystemic Neurodegeneration

Absence of BiP co-chaperone DNAJC3 causes diabetes mellitus and multisystemic neurodegeneration

scientific article

Alteration of fatty-acid-metabolizing enzymes affects mitochondrial form and function in hereditary spastic paraplegia

scientific article

Alteration of ganglioside biosynthesis responsible for complex hereditary spastic paraplegia

scientific article published on 06 June 2013

Alteration of ornithine metabolism leads to dominant and recessive hereditary spastic paraplegia

scientific article

Analysis of CYP7B1 in non-consanguineous cases of hereditary spastic paraplegia

scientific article published on 15 October 2008

Autosomal recessive spastic ataxia of Charlevoix Saguenay (ARSACS): expanding the genetic, clinical and imaging spectrum

scientific article published on 15 March 2013

Beyond ALS and FTD: the phenotypic spectrum of TBK1 mutations includes PSP-like and cerebellar phenotypes

scientific article

CNTNAP1 mutations cause CNS hypomyelination and neuropathy with or without arthrogryposis

scientific article

Cerebrotendinous xanthomatosis

scientific article published on 01 December 2006

Cholestenoic acids regulate motor neuron survival via liver X receptors

scientific article

Complex hyperkinetic movement disorders associated with POLG mutations.

scientific article

Correction: Spastic Paraplegia Mutation N256S in the Neuronal Microtubule Motor KIF5A Disrupts Axonal Transport in a Drosophila HSP Model

scientific article published on 15 April 2013

De novo ITPR1 variants are a recurrent cause of early-onset ataxia, acting via loss of channel function

De novo loss- or gain-of-function mutations in KCNA2 cause epileptic encephalopathy

scientific article

De novo mutations in hereditary diffuse leukoencephalopathy with axonal spheroids (HDLS).

scientific article published on 6 November 2013

Disruptive SCYL1 Mutations Underlie a Syndrome Characterized by Recurrent Episodes of Liver Failure, Peripheral Neuropathy, Cerebellar Atrophy, and Ataxia

scientific article

Do not trust the pedigree: reduced and sex-dependent penetrance at a novel mutation hotspot in ATL1 blurs autosomal dominant inheritance of spastic paraplegia

scientific article published on 5 April 2013

Effect of spastic paraplegia mutations in KIF5A kinesin on transport activity

scientific article

Electrophysiological characterisation of motor and sensory tracts in patients with hereditary spastic paraplegia (HSP).

scientific article published on 09 October 2013

Establishment of SPAST mutant induced pluripotent stem cells (iPSCs) from a hereditary spastic paraplegia (HSP) patient

scientific article published on 26 September 2016

First de novo KCND3 mutation causes severe Kv4.3 channel dysfunction leading to early onset cerebellar ataxia, intellectual disability, oral apraxia and epilepsy

scientific article published on 21 July 2015

GDAP2 mutations implicate susceptibility to cellular stress in a new form of cerebellar ataxia

GEnomes Management Application (GEM.app): a new software tool for large-scale collaborative genome analysis

scientific article published on 3 April 2013

Generation of induced pluripotent stem cells (iPSCs) from a hereditary spastic paraplegia patient carrying a homozygous R486C mutation in CYP7B1 (SPG5).

scientific article published on 17 September 2016

Genetic variability in the dopamine system (dopamine receptor D4, catechol-O-methyltransferase) modulates neurophysiological responses to gains and losses.

scientific article published on 28 February 2009

Genetics of hereditary spastic paraplegias

scientific article

Gray and white matter alterations in hereditary spastic paraplegia type SPG4 and clinical correlations

scientific article published on 9 June 2015

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

Hypomorphic mutations in POLR3A are a frequent cause of sporadic and recessive spastic ataxia

scientific article published on 27 April 2017

Identification of a heterozygous genomic deletion in the spatacsin gene in SPG11 patients using high-resolution comparative genomic hybridization.

scientific article

Identification of compound heterozygous variants in OPTN in an ALS-FTD patient from the CReATe consortium: a case report

scientific article published on 20 March 2018

Innovative genomic collaboration using the GENESIS (GEM.app) platform

scientific article

Lack of enzyme activity in GBA2 mutants associated with hereditary spastic paraplegia/cerebellar ataxia (SPG46).

scientific article published on 25 July 2015

Long-term course and mutational spectrum of spatacsin-linked spastic paraplegia

scientific article

Loss of function of glucocerebrosidase GBA2 is responsible for motor neuron defects in hereditary spastic paraplegia

scientific article

Loss-of-function mutations in the ATP13A2/PARK9 gene cause complicated hereditary spastic paraplegia (SPG78).

scientific article published in February 2017

Marked accumulation of 27-hydroxycholesterol in SPG5 patients with hereditary spastic paresis

scientific article

Mechanistic basis of an epistatic interaction reducing age at onset in hereditary spastic paraplegia

scientific article published on 22 February 2018

Motor protein mutations cause a new form of hereditary spastic paraplegia

scientific article

Multisystemic SYNE1 ataxia: confirming the high frequency and extending the mutational and phenotypic spectrum

scientific article published on 19 May 2016

Mutation screen reveals novel variants and expands the phenotypes associated with DYNC1H1.

scientific article

Mutations in BICD2 cause dominant congenital spinal muscular atrophy and hereditary spastic paraplegia

scientific article

Mutations in phospholipase DDHD2 cause autosomal recessive hereditary spastic paraplegia (SPG54).

scientific article published on 13 March 2013

Mutations in the ER-shaping protein reticulon 2 cause the axon-degenerative disorder hereditary spastic paraplegia type 12

scientific article

Nerve ultrasound characterizes AMN polyneuropathy as inhomogeneous and focal hypertrophic

article

Neurophysiological markers of novelty processing are modulated by COMT and DRD4 genotypes.

scientific article published on 12 February 2010

Overcoming the divide between ataxias and spastic paraplegias: Shared phenotypes, genes, and pathways.

scientific article published on 14 February 2017

PNPLA6 mutations cause Boucher-Neuhauser and Gordon Holmes syndromes as part of a broad neurodegenerative spectrum

scientific article published on 19 December 2013

Pathogenic fungi regulate immunity by inducing neutrophilic myeloid-derived suppressor cells

scientific article

Phenotype and frequency of STUB1 mutations: next-generation screenings in Caucasian ataxia and spastic paraplegia cohorts

scientific article

Phenotypic and molecular insights into spinal muscular atrophy due to mutations in BICD2.

scientific article

Potential CanonicalWntPathway Activation in High-Grade Astrocytomas ⬇️

scientific article published on August 2, 2012

Pure and syndromic optic atrophy explained by deep intronic OPA1 mutations and an intralocus modifier

scientific article

REEP1 mutation spectrum and genotype/phenotype correlation in hereditary spastic paraplegia type 31.

scientific article

Reply: Complicated hereditary spastic paraplegia due to ATP13A2 mutations: what's in a name?

scientific article published on 3 November 2017

Reply: POLR3A variants in hereditary spastic paraplegia and ataxia

scientific article published on 11 December 2017

Reply: The p.Ser107Leu in BICD2 is a mutation 'hot spot' causing distal spinal muscular atrophy

scientific article

SERAC1 deficiency causes complicated HSP: evidence from a novel splice mutation in a large family

scientific article

STUB1/CHIP mutations cause Gordon Holmes syndrome as part of a widespread multisystemic neurodegeneration: evidence from four novel mutations

scientific article published on 13 February 2017

Screening of hereditary spastic paraplegia patients for alterations at NIPA1 mutational hotspots

scientific article published on 14 January 2008

Side chain-oxidized oxysterols regulate the brain renin-angiotensin system through a liver X receptor-dependent mechanism

scientific article published on 31 May 2011

Spastic paraplegia mutation N256S in the neuronal microtubule motor KIF5A disrupts axonal transport in a Drosophila HSP model

scientific article (publication date: 2012)

Spina Bifida

Sulphatation does not appear to be a protective mechanism to prevent oxysterol accumulation in humans and mice

scientific article (publication date: 2013)

The effects of COMT (Val108/158Met) and DRD4 (SNP -521) dopamine genotypes on brain activations related to valence and magnitude of rewards

scientific article published on 27 December 2009

The impact of catechol-O-methyltransferase and dopamine D4 receptor genotypes on neurophysiological markers of performance monitoring.

scientific article

The spectrum of KIAA0196 variants, and characterization of a murine knockout: implications for the mutational mechanism in hereditary spastic paraplegia type SPG8.

scientific article

The tumour suppressor gene WWOX is mutated in autosomal recessive cerebellar ataxia with epilepsy and mental retardation

scientific article

Truncating Mutations in UBAP1 Cause Hereditary Spastic Paraplegia

Truncating Mutations in UBAP1 Cause Hereditary Spastic Paraplegia.

scientific article published in June 2019

Uniparental disomy determined by whole-exome sequencing in a spectrum of rare motoneuron diseases and ataxias

scientific article

Uniparental disomy of chromosome 16 unmasks recessive mutations of FA2H/SPG35 in 4 families

scientific article published on 17 June 2016

List of works by Rebecca Schüle

"Pseudodominant inheritance" of ataxia with ocular apraxia type 2 (AOA2).

A Potential Role for a Genetic Variation of AKAP5 in Human Aggression and Anger Control

A high-throughput resequencing microarray for autosomal dominant spastic paraplegia genes

A recurrent mutation in KCNA2 as a novel cause of hereditary spastic paraplegia and ataxia

A total of 220 patients with autosomal dominant spastic paraplegia do not display mutations in the SLC33A1 gene (SPG42).

ADHD candidate gene (DRD4 exon III) affects inhibitory control in a healthy sample

AP5Z1/SPG48 frequency in autosomal recessive and sporadic spastic paraplegia

Abnormal Paraplegin Expression in Swollen Neurites, τ- and α-Synuclein Pathology in a Case of Hereditary Spastic Paraplegia SPG7 with an Ala510Val Mutation

Absence of BiP Co-chaperone DNAJC3 Causes Diabetes Mellitus and Multisystemic Neurodegeneration

Absence of BiP co-chaperone DNAJC3 causes diabetes mellitus and multisystemic neurodegeneration

Alteration of fatty-acid-metabolizing enzymes affects mitochondrial form and function in hereditary spastic paraplegia

Alteration of ganglioside biosynthesis responsible for complex hereditary spastic paraplegia

Alteration of ornithine metabolism leads to dominant and recessive hereditary spastic paraplegia

Analysis of CYP7B1 in non-consanguineous cases of hereditary spastic paraplegia

Autosomal recessive spastic ataxia of Charlevoix Saguenay (ARSACS): expanding the genetic, clinical and imaging spectrum

Beyond ALS and FTD: the phenotypic spectrum of TBK1 mutations includes PSP-like and cerebellar phenotypes

CNTNAP1 mutations cause CNS hypomyelination and neuropathy with or without arthrogryposis

Cerebrotendinous xanthomatosis

Cholestenoic acids regulate motor neuron survival via liver X receptors

Complex hyperkinetic movement disorders associated with POLG mutations.

Correction: Spastic Paraplegia Mutation N256S in the Neuronal Microtubule Motor KIF5A Disrupts Axonal Transport in a Drosophila HSP Model

De novo ITPR1 variants are a recurrent cause of early-onset ataxia, acting via loss of channel function

De novo loss- or gain-of-function mutations in KCNA2 cause epileptic encephalopathy

De novo mutations in hereditary diffuse leukoencephalopathy with axonal spheroids (HDLS).

Disruptive SCYL1 Mutations Underlie a Syndrome Characterized by Recurrent Episodes of Liver Failure, Peripheral Neuropathy, Cerebellar Atrophy, and Ataxia

Do not trust the pedigree: reduced and sex-dependent penetrance at a novel mutation hotspot in ATL1 blurs autosomal dominant inheritance of spastic paraplegia

Effect of spastic paraplegia mutations in KIF5A kinesin on transport activity

Electrophysiological characterisation of motor and sensory tracts in patients with hereditary spastic paraplegia (HSP).

Establishment of SPAST mutant induced pluripotent stem cells (iPSCs) from a hereditary spastic paraplegia (HSP) patient

First de novo KCND3 mutation causes severe Kv4.3 channel dysfunction leading to early onset cerebellar ataxia, intellectual disability, oral apraxia and epilepsy

GDAP2 mutations implicate susceptibility to cellular stress in a new form of cerebellar ataxia

GEnomes Management Application (GEM.app): a new software tool for large-scale collaborative genome analysis

Generation of induced pluripotent stem cells (iPSCs) from a hereditary spastic paraplegia patient carrying a homozygous R486C mutation in CYP7B1 (SPG5).

Genetic variability in the dopamine system (dopamine receptor D4, catechol-O-methyltransferase) modulates neurophysiological responses to gains and losses.

Genetics of hereditary spastic paraplegias

Gray and white matter alterations in hereditary spastic paraplegia type SPG4 and clinical correlations

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

Hereditary spastic paraplegia: Clinicogenetic lessons from 608 patients

Hypomorphic mutations in POLR3A are a frequent cause of sporadic and recessive spastic ataxia

Identification of a heterozygous genomic deletion in the spatacsin gene in SPG11 patients using high-resolution comparative genomic hybridization.

Identification of compound heterozygous variants in OPTN in an ALS-FTD patient from the CReATe consortium: a case report

Innovative genomic collaboration using the GENESIS (GEM.app) platform

Lack of enzyme activity in GBA2 mutants associated with hereditary spastic paraplegia/cerebellar ataxia (SPG46).

Long-term course and mutational spectrum of spatacsin-linked spastic paraplegia

Loss of function of glucocerebrosidase GBA2 is responsible for motor neuron defects in hereditary spastic paraplegia

Loss-of-function mutations in the ATP13A2/PARK9 gene cause complicated hereditary spastic paraplegia (SPG78).

Marked accumulation of 27-hydroxycholesterol in SPG5 patients with hereditary spastic paresis

Mechanistic basis of an epistatic interaction reducing age at onset in hereditary spastic paraplegia

Motor protein mutations cause a new form of hereditary spastic paraplegia

Multisystemic SYNE1 ataxia: confirming the high frequency and extending the mutational and phenotypic spectrum

Mutation screen reveals novel variants and expands the phenotypes associated with DYNC1H1.

Mutations in BICD2 cause dominant congenital spinal muscular atrophy and hereditary spastic paraplegia

Mutations in phospholipase DDHD2 cause autosomal recessive hereditary spastic paraplegia (SPG54).

Mutations in the ER-shaping protein reticulon 2 cause the axon-degenerative disorder hereditary spastic paraplegia type 12

Nerve ultrasound characterizes AMN polyneuropathy as inhomogeneous and focal hypertrophic

Neurophysiological markers of novelty processing are modulated by COMT and DRD4 genotypes.

Overcoming the divide between ataxias and spastic paraplegias: Shared phenotypes, genes, and pathways.

PNPLA6 mutations cause Boucher-Neuhauser and Gordon Holmes syndromes as part of a broad neurodegenerative spectrum

Pathogenic fungi regulate immunity by inducing neutrophilic myeloid-derived suppressor cells

Phenotype and frequency of STUB1 mutations: next-generation screenings in Caucasian ataxia and spastic paraplegia cohorts

Phenotypic and molecular insights into spinal muscular atrophy due to mutations in BICD2.

Potential CanonicalWntPathway Activation in High-Grade Astrocytomas ⬇️

Pure and syndromic optic atrophy explained by deep intronic OPA1 mutations and an intralocus modifier

REEP1 mutation spectrum and genotype/phenotype correlation in hereditary spastic paraplegia type 31.

Reply: Complicated hereditary spastic paraplegia due to ATP13A2 mutations: what's in a name?

Reply: POLR3A variants in hereditary spastic paraplegia and ataxia

Reply: The p.Ser107Leu in BICD2 is a mutation 'hot spot' causing distal spinal muscular atrophy

SERAC1 deficiency causes complicated HSP: evidence from a novel splice mutation in a large family

STUB1/CHIP mutations cause Gordon Holmes syndrome as part of a widespread multisystemic neurodegeneration: evidence from four novel mutations

Screening of hereditary spastic paraplegia patients for alterations at NIPA1 mutational hotspots

Side chain-oxidized oxysterols regulate the brain renin-angiotensin system through a liver X receptor-dependent mechanism

Spastic paraplegia mutation N256S in the neuronal microtubule motor KIF5A disrupts axonal transport in a Drosophila HSP model

Spina Bifida

Sulphatation does not appear to be a protective mechanism to prevent oxysterol accumulation in humans and mice

The effects of COMT (Val108/158Met) and DRD4 (SNP -521) dopamine genotypes on brain activations related to valence and magnitude of rewards

The impact of catechol-O-methyltransferase and dopamine D4 receptor genotypes on neurophysiological markers of performance monitoring.

The spectrum of KIAA0196 variants, and characterization of a murine knockout: implications for the mutational mechanism in hereditary spastic paraplegia type SPG8.

The tumour suppressor gene WWOX is mutated in autosomal recessive cerebellar ataxia with epilepsy and mental retardation

Truncating Mutations in UBAP1 Cause Hereditary Spastic Paraplegia