Lista de obras - Rebecca Schüle - Dominio Público Uruguay

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

artículo científico publicado en 2008

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

artículo científico publicado en 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

artículo científico publicado en 2016

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

artículo científico publicado en 2010

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

artículo científico publicado en 2009

AP5Z1/SPG48 frequency in autosomal recessive and sporadic spastic paraplegia

artículo científico publicado en 2014

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

artículo científico publicado en 2015

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

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

artículo científico publicado en 2014

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

artículo científico publicado en 2012

Alteration of ganglioside biosynthesis responsible for complex hereditary spastic paraplegia

artículo científico publicado en 2013

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

artículo científico publicado en 2015

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

artículo científico publicado en 2008

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

artículo científico publicado en 2013

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

artículo científico publicado en 2017

CNTNAP1 mutations cause CNS hypomyelination and neuropathy with or without arthrogryposis

artículo científico publicado en 2017

Cerebrotendinous xanthomatosis

scientific article published on 01 December 2006

Cholestenoic acids regulate motor neuron survival via liver X receptors

artículo científico publicado en 2014

Complex hyperkinetic movement disorders associated with POLG mutations.

artículo científico publicado en 2010

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

artículo científico publicado en 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

artículo científico publicado en 2015

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

artículo científico publicado en 2013

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

artículo científico publicado en 2015

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

artículo científico publicado en 2013

Effect of spastic paraplegia mutations in KIF5A kinesin on transport activity

artículo científico publicado en 2008

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

artículo científico publicado en 2013

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

artículo científico publicado en 2016

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

artículo científico publicado en 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

artículo científico publicado en 2013

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

artículo científico publicado en 2016

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

artículo científico publicado en 2009

Genetics of hereditary spastic paraplegias

artículo científico publicado en 2011

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

artículo científico publicado en 2015

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

artículo científico publicado en 2017

Hereditary spastic paraplegia: Clinicogenetic lessons from 608 patients

artículo científico publicado en 2016

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

artículo científico publicado en 2017

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

artículo científico publicado en 2008

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

artículo científico publicado en 2018

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

artículo científico publicado en 2015

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

artículo científico publicado en 2015

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

artículo científico publicado en 2007

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

artículo científico publicado en 2013

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

artículo científico publicado en 2017

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

artículo científico publicado en 2009

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

artículo científico publicado en 2018

Motor protein mutations cause a new form of hereditary spastic paraplegia

artículo científico publicado en 2014

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

artículo científico publicado en 2016

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

artículo científico publicado en 2015

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

artículo científico publicado en 2013

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

artículo científico publicado en 2013

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

artículo científico publicado en 2012

Nerve ultrasound characterizes AMN polyneuropathy as inhomogeneous and focal hypertrophic

article

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

artículo científico publicado en 2010

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

artículo científico publicado en 2017

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

artículo científico publicado en 2013

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

artículo científico publicado en 2015

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

artículo científico publicado en 2014

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

artículo científico publicado en 2014

Potential canonical wnt pathway activation in high-grade astrocytomas.

artículo científico publicado en 2012

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

artículo científico publicado en 2014

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

artículo científico publicado en 2008

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

artículo científico publicado en 2017

Reply: POLR3A variants in hereditary spastic paraplegia and ataxia

artículo científico publicado en 2017

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

artículo científico publicado en 2015

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

artículo científico publicado en 2017

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

artículo científico publicado en 2008

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

artículo científico publicado en 2011

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

artículo científico publicado en 2012

Spina Bifida

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

artículo científico publicado en 2013

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

artículo científico publicado en 2009

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

artículo científico publicado en 2007

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

artículo científico publicado en 2015

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

artículo científico publicado en 2013

Truncating Mutations in UBAP1 Cause Hereditary Spastic Paraplegia

Truncating Mutations in UBAP1 Cause Hereditary Spastic Paraplegia.

artículo científico publicado en 2019

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

artículo científico publicado en 2017

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

artículo científico publicado en 2016

Lista de obras de 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 canonical wnt pathway 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