List of works - Rebecca Schüle

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

scientific article

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

scientific article

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

scientific article

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

scientific article

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

scientific article published on 19 December 2013

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

scientific article

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

scientific article

Genetics of hereditary spastic paraplegias

scientific article

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

scientific article published on 3 April 2013

Alteration of ganglioside biosynthesis responsible for complex hereditary spastic paraplegia

scientific article published on 06 June 2013

Effect of spastic paraplegia mutations in KIF5A kinesin on transport activity

scientific article

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

scientific article

Cholestenoic acids regulate motor neuron survival via liver X receptors

scientific article

Hereditary spastic paraplegia: Clinicogenetic lessons from 608 patients

scientific article

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

scientific article

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

scientific article

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

scientific article

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

scientific article published on 15 March 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

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

scientific article

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

scientific article

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

scientific article

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

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

scientific article published in February 2017

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

scientific article (publication date: 2012)

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

scientific article published on 6 November 2013

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

scientific article published on 13 March 2013

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

scientific article

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

scientific article published on 14 February 2017

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

scientific article

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

scientific article

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

scientific article published on 31 May 2011

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

scientific article published on 15 October 2008

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

scientific article

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

scientific article published on 12 February 2010

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

scientific article published on 27 April 2017

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

scientific article

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

scientific article published on November 12, 2015

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

scientific article

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

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

scientific article published on 6 November 2017

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

scientific article

Motor protein mutations cause a new form of hereditary spastic paraplegia

scientific article

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

scientific article published on 25 July 2015

Potential CanonicalWntPathway Activation in High-Grade Astrocytomas

scientific article published on August 2, 2012

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

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

scientific article

CNTNAP1 mutations cause CNS hypomyelination and neuropathy with or without arthrogryposis

scientific article

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

scientific article published on 09 October 2013

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

scientific article published on 29 December 2011

List of works by Rebecca Schüle

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

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

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

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

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

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

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

Genetics of hereditary spastic paraplegias

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

Alteration of ganglioside biosynthesis responsible for complex hereditary spastic paraplegia

Effect of spastic paraplegia mutations in KIF5A kinesin on transport activity

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

Cholestenoic acids regulate motor neuron survival via liver X receptors

Hereditary spastic paraplegia: Clinicogenetic lessons from 608 patients

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

Motor protein mutations cause a new form of hereditary spastic paraplegia

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

Potential CanonicalWntPathway Activation in High-Grade Astrocytomas

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

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

CNTNAP1 mutations cause CNS hypomyelination and neuropathy with or without arthrogryposis

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

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