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List of works by Ludger Schöls

"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 pan-European study of the C9orf72 repeat associated with FTLD: geographic prevalence, genomic instability, and intermediate repeats

scientific article published on 4 January 2013

A randomized, placebo-controlled trial of AFQ056 for the treatment of chorea in Huntington's disease

scientific 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

Absence of EEG correlates of self-referential processing depth in ALS.

scientific article published on 29 June 2017

Acetazolamide-responsive exercise-induced episodic ataxia associated with a novel homozygous DARS2 mutation

scientific article published on 11 July 2011

AlaSOPro mutation in the gene encoding α-synuclein in Parkinson's disease ⬇️

scientific article (publication date: February 1998)

Alpha-synuclein and Parkinson's disease: Implications from the screening of more than 1,900 patients

scholarly article by Daniela Berg et al published 2005 in Movement Disorders

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

Amplicon-based high-throughput pooled sequencing identifies mutations in CYP7B1 and SPG7 in sporadic spastic paraplegia patients

scientific article

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

scientific article published on 15 October 2008

Antisense Oligonucleotide Mediated Splice Correction of a Deep Intronic Mutation in OPA1.

scientific article published on 22 November 2016

Ataxia meets chorioretinal dystrophy and hypogonadism: Boucher-Neuhäuser syndrome due to PNPLA6 mutations

scientific article published on 30 April 2014

Ataxia with ophthalmoplegia or sensory neuropathy is frequently caused by POLG mutations

scientific article published in September 2009

Atypical juvenile parkinsonism in a consanguineous SPG15 family

scientific article published on 06 January 2011

Autonomic dysfunction in different subtypes of multiple system atrophy

scientific article published in September 2008

Autosomal dominant cerebellar ataxias: clinical features, genetics, and pathogenesis

scientific article published on May 2004

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

scientific article published on 15 March 2013

Axonal transport deficit in a KIF5A( -/- ) mouse model

scientific article published on April 2012

Baroreflex sensitivity and power spectral analysis during autonomic testing in different extrapyramidal syndromes

scientific article published in February 2010

Biological and clinical characteristics of individuals at risk for spinocerebellar ataxia types 1, 2, 3, and 6 in the longitudinal RISCA study: analysis of baseline data

scientific article

Biological and clinical characteristics of the European Friedreich's Ataxia Consortium for Translational Studies (EFACTS) cohort: a cross-sectional analysis of baseline data

scientific article

Body Mass Index Decline Is Related to Spinocerebellar Ataxia Disease Progression

Brain-computer interfacing in amyotrophic lateral sclerosis: Implications of a resting-state EEG analysis

scientific article published on August 2015

CAG repeats in Restless Legs syndrome

scientific article

CHIP mutations affect the heat shock response differently in human fibroblasts and iPSC-derived neurons

scientific article published on 12 October 2020

CNTNAP1 mutations cause CNS hypomyelination and neuropathy with or without arthrogryposis

scientific article

Cardiomyopathy in Friedreich's ataxia-assessment by cardiac MRI

scientific article published on 01 August 2007

Case series: Slowing alpha rhythm in late-stage ALS patients

scientific article published on 26 November 2017

Cerebrotendinous xanthomatosis

scientific article published on 01 December 2006

Characterizing POLG ataxia: clinics, electrophysiology and imaging

scientific article published in December 2012

Charcot-Marie-Tooth hereditary neuropathy due to a mitochondrial ATP6 mutation.

scientific article

Cholestenoic acids regulate motor neuron survival via liver X receptors

scientific article

Chorein Sensitive Arrangement of Cytoskeletal Architecture

scientific article published on 27 August 2015

Chorein sensitivity of cytoskeletal organization and degranulation of platelets

scientific article published on 8 April 2013

Chorein-sensitive polymerization of cortical actin and suicidal cell death in chorea-acanthocytosis

scientific article published on 06 January 2012

Clinical and genetic characteristics of sporadic adult-onset degenerative ataxia

scientific article published on 09 August 2017

Clinical features and neuropathology of autosomal dominant spinocerebellar ataxia (SCA17).

scientific article published in September 2003

Clinical features, neurogenetics and neuropathology of the polyglutamine spinocerebellar ataxias type 1, 2, 3, 6 and 7.

scientific article published on 21 February 2013

Collision technique in Martin-Gruber anastomosis ⬇️

scientific article published on 01 October 1998

Comparing speech characteristics in spinocerebellar ataxias type 3 and type 6 with Friedreich ataxia

scientific article published on 30 September 2014

Comparison of three clinical rating scales in Friedreich ataxia (FRDA).

scientific article

Complex hyperkinetic movement disorders associated with POLG mutations.

scientific article

Complicated spastic paraplegia in patients with AP5Z1 mutations (SPG48).

scientific article

Comprehensive systematic review summary: Treatment of cerebellar motor dysfunction and ataxia: Report of the Guideline Development, Dissemination, and Implementation Subcommittee of the American Academy of Neurology

scientific article published on 9 February 2018

Consistent affection of the central somatosensory system in spinocerebellar ataxia type 2 and type 3 and its significance for clinical symptoms and rehabilitative therapy

scientific article published on 2 October 2006

Coordination and timing deficits in speech and swallowing in autosomal recessive spastic ataxia of Charlevoix–Saguenay (ARSACS)

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

D90A-SOD1 ALS mimicking monoclonal gammopathy-associated ALS.

scientific article published on 13 March 2012

Data protection in biomaterial banks for Parkinson's disease research: the model of GEPARD (Gene Bank Parkinson's Disease Germany).

scientific article

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

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

scientific article published on 10 August 2012

Depression comorbidity in spinocerebellar ataxia

scientific article

Developmental Consequences of Defective ATG7-Mediated Autophagy in Humans

scientific article published on 24 June 2021

Diagnosis and treatment of Friedreich ataxia: a European perspective

scientific article

Dissecting the role of the mitochondrial chaperone mortalin in Parkinson's disease: functional impact of disease-related variants on mitochondrial homeostasis

scientific article published on 2 September 2010

Dissociation of grey and white matter reduction in spinocerebellar ataxia type 3 and 6: a voxel-based morphometry study

scientific article published on 26 September 2006

Do CTG expansions at the SCA8 locus cause ataxia?

scientific article

Dominant spinal muscular atrophy due to BICD2: a novel mutation refines the phenotype.

scientific article published on 11 December 2013

Dystonia with aphonia, slow horizontal saccades, epilepsy and photic myoclonus: a novel syndrome?

scientific article published on 27 November 2013

Early symptoms in spinocerebellar ataxia type 1, 2, 3, and 6.

scientific article published in November 2008

Effect of spastic paraplegia mutations in KIF5A kinesin on transport activity

scientific article

Effects of acetyl-DL-leucine on cerebellar ataxia (ALCAT trial): study protocol for a multicenter, multinational, randomized, double-blind, placebo-controlled, crossover phase III trial

scientific article

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

scientific article published on 09 October 2013

Electrophysiology in spinocerebellar ataxias: spread of disease and characteristic findings

scientific article published in January 2008

Enzymatic characterization of novel arylsulfatase A variants using human arylsulfatase A-deficient immortalized mesenchymal stromal cells

scientific article

Erratum: Corrigendum: Variant in the sequence of the LINGO1 gene confers risk of essential tremor

article

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

scientific article published on 26 September 2016

Establishment of STUB1/CHIP mutant induced pluripotent stem cells (iPSCs) from a patient with Gordon Holmes syndrome/SCAR16.

scientific article

Expanded phenotypic spectrum of the m.8344A>G "MERRF" mutation: data from the German mitoNET registry

scientific article published on 19 March 2016

Falls in spinocerebellar ataxias: Results of the EuroSCA Fall Study

scientific article

First appraisal of brain pathology owing to A30P mutant alpha-synuclein

scientific article published in May 2010

Frequency and phenotypic variability of the GAG deletion of the DYT1 gene in an unselected group of patients with dystonia.

scientific article published in September 2003

Friedreich ataxia: dysarthria profile and clinical data

scientific article

Friedreich's ataxia. Revision of the phenotype according to molecular genetics ⬇️

scientific article published on December 1, 1997

Further evidence for genetic heterogeneity of distal HMN type V, CMT2 with predominant hand involvement and Silver syndrome

scientific article published on 30 July 2007

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

Generation of induced pluripotent stem cells (iPSCs) from a hereditary spastic paraplegia patient carrying a homozygous Y275X mutation in CYP7B1 (SPG5).

scientific article published on 18 September 2016

Generation of optic atrophy 1 patient-derived induced pluripotent stem cells (iPS-OPA1-BEHR) for disease modeling of complex optic atrophy syndromes (Behr syndrome).

scientific article published on 17 September 2016

Genetic analysis of the α2-macroglobulin gene in early-and late-onset Parkinsonʼs disease

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

Genetics of hereditary spastic paraplegias

scientific article

Genotype-specific patterns of atrophy progression are more sensitive than clinical decline in SCA1, SCA3 and SCA6.

scientific article published on 18 February 2013

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

scientific article published on 9 June 2015

Hemodialysis in MNGIE transiently reduces serum and urine levels of thymidine and deoxyuridine, but not CSF levels and neurological function

scientific article published on August 2017

Hepatic mitochondrial dysfunction in Friedreich ataxia

scientific article

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

High prevalence of NMDA receptor IgA/IgM antibodies in different dementia types

scientific article published on 18 October 2014

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

scientific article published on 27 April 2017

Identification and characterisation of a large senataxin (SETX) gene duplication in ataxia with ocular apraxia type 2 (AOA2).

scientific article published on 29 July 2008

Identification and functional characterization of a novel R621C mutation in the synphilin-1 gene in Parkinson's disease

scientific article (publication date: June 2003)

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

scientific article

Identifying Niemann-Pick type C in early-onset ataxia: two quick clinical screening tools

scientific article published on 17 June 2016

Imaging features in conventional MRI, spectroscopy and diffusion weighted images of hereditary diffuse leukoencephalopathy with axonal spheroids (HDLS).

scientific article published on 20 September 2014

Individual changes in preclinical spinocerebellar ataxia identified via increased motor complexity

scientific article published on 26 October 2016

Individualized exergame training improves postural control in advanced degenerative spinocerebellar ataxia: A rater-blinded, intra-individually controlled trial

scientific article published on 28 March 2017

Induced pluripotent stem cells (iPSCs) derived from cerebrotendinous xanthomatosis (CTX) patient's fibroblasts carrying a R395S mutation

scientific article published on 17 September 2016

Inducing Differentiation of Premalignant Hepatic Cells as a Novel Therapeutic Strategy in Hepatocarcinoma

scientific article published on 3 August 2016

Inventory of Non-Ataxia Signs (INAS): Validation of a New Clinical Assessment Instrument ⬇️

scientific article published on June 1, 2013

Involvement of the cerebellum in Parkinson disease and dementia with Lewy bodies

scientific article published on 25 April 2017

Kick and rush: paradoxical kinesia in Parkinson disease

scientific article published in August 2008

Kick and rush: paradoxical kinesia in Parkinson disease

scientific article published in July 2009

L-2 hydroxyglutaric aciduria as a rare cause of leukencephalopathy in adults ⬇️

scientific article published on July 25, 2012

Lack of mutations in the epsilon-sarcoglycan gene in patients with different subtypes of primary dystonias

scientific article published on 01 November 2004

Late adult-onset pure spinal muscular atrophy due to a compound HEXB macro-deletion

scientific article published on 25 July 2013

Late onset vanishing white matter disease

scientific article published on 31 March 2007

Leukodystrophies and other genetic metabolic leukoencephalopathies in children and adults

scientific article

Leukodystrophies in idiopathic adult-onset ataxia: frequency and phenotype in 105 patients

scientific article published on 7 August 2013

Leukoencephalopathy With Axonal Spheroids and Pigmented Glia: New Clues in Sporadic Cases

scientific article published on 17 October 2016

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

scientific article

Long-term disease progression in spinocerebellar ataxia types 1, 2, 3, and 6: a longitudinal cohort study

scientific article published on 11 September 2015

Long-term evolution of patient-reported outcome measures in spinocerebellar ataxias

Long‐term effects of coordinative training in degenerative cerebellar disease ⬇️

scientific article published on October 15, 2010

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

Mitochondrial Morphology, Function and Homeostasis Are Impaired by Expression of an N-terminal Calpain Cleavage Fragment of Ataxin-3

scholarly article by Tina Harmuth published in January 2018

Mitochondrial impairment in patients and asymptomatic mutation carriers of Huntington's disease

scientific article published in June 2005

Modulation of the age at onset in spinocerebellar ataxia by CAG tracts in various genes

scientific article

Motor cortex activation by transcranial magnetic stimulation in ataxia patients depends on the genetic defect

scientific article published in February 2002

Motor fibers in the sural nerve of humans ⬇️

scientific article published on 01 December 1997

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

Mutant superoxide dismutase-1 indistinguishable from wild-type causes ALS.

scientific article published on 16 May 2012

Mutation analysis of the neurofilament M gene in Parkinson's disease

scientific article (publication date: 13 November 2003)

Mutation at the SCA17 locus is not a common cause of primary dystonia

scientific article published on 01 October 2004

Mutation in the AP4B1 gene cause hereditary spastic paraplegia type 47 (SPG47) ⬇️

article by Peter Bauer et al published 1 February 2012 in Neurogenetics

Mutations in TITF1 are not relevant to sporadic and familial chorea of unknown cause.

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

NPC1 is enriched in unexplained early onset ataxia: a targeted high-throughput screening

scientific article published on 4 September 2015

Nerve ultrasound characterizes AMN polyneuropathy as inhomogeneous and focal hypertrophic

article

Neurochondrin is a neuronal target antigen in autoimmune cerebellar degeneration

scientific article

Neurofilament L gene is not a genetic factor of sporadic and familial Parkinson's disease

scientific article published in September 2002

Neurons, Erythrocytes and Beyond -The Diverse Functions of Chorein

scientific article published on 28 November 2017

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

scientific article published on 12 February 2010

New mutations in protein kinase Cgamma associated with spinocerebellar ataxia type 14.

scientific article published in November 2005

Niemann-Pick type C is frequent in adult ataxia with cognitive decline and vertical gaze palsy

scientific article

No parkinsonism in SCA2 and SCA3 despite severe neurodegeneration of the dopaminergic substantia nigra

scientific article published on 11 September 2015

Nonataxia symptoms in Friedreich Ataxia

Novel homozygous p.E64D mutation in DJ1 in early onset Parkinson disease (PARK7).

scientific article published on October 2004

PET and MRI reveal early evidence of neurodegeneration in spinocerebellar ataxia type 17.

scientific article published on 31 May 2012

PLEKHG5 deficiency leads to an intermediate form of autosomal-recessive Charcot-Marie-Tooth disease

scientific article published on 17 June 2013

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

scientific article published on 19 December 2013

PRRT2-related disorders: further PKD and ICCA cases and review of the literature

scientific article published on 09 January 2013

Parental mosaicism in another case of Dravet syndrome caused by a novel SCN1A deletion: a case report

scientific article

Peripheral Neuropathy in Spinocerebellar Ataxia Type 1, 2, 3, and 6.

scientific article

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

scientific article

Polymorphisms in the glial glutamate transporter SLC1A2 are associated with essential tremor

scientific journal article

Polymorphisms in the interleukin-1 alpha and beta genes and the risk for Parkinson's disease

scientific article

Prediction of the age at onset in spinocerebellar ataxia type 1, 2, 3 and 6.

scientific article

Progression characteristics of the European Friedreich's Ataxia Consortium for Translational Studies (EFACTS): a 2 year cohort study

scientific article published on December 2016

Protein surveillance machinery in brains with spinocerebellar ataxia type 3: redistribution and differential recruitment of 26S proteasome subunits and chaperones to neuronal intranuclear inclusions

scientific article published in March 2002

Pupil diameter in darkness differentiates progressive supranuclear palsy (PSP) from other extrapyramidal syndromes

scientific article published on 01 October 2007

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

Rare Variants in Neurodegeneration Associated Genes Revealed by Targeted Panel Sequencing in a German ALS Cohort

scientific article published on 13 October 2016

Rare differential diagnosis of primary adrenal insufficiency: case 6/2011 ⬇️

scientific article published on 07 June 2011

Rare mutations in SQSTM1 modify susceptibility to frontotemporal lobar degeneration

scientific article

Repeat expansion in spinocerebellar ataxia type 17 alleles of the TATA-box binding protein gene: an evolutionary approach

scientific article published on 11 October 2006

Retinal nerve fiber layer loss in multiple system atrophy

scientific article published on 21 March 2011

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

scientific article

SCA3: neurological features, pathogenesis and animal models

scientific article

SCA6 is caused by moderate CAG expansion in the alpha1A-voltage- dependent calcium channel gene ⬇️

scientific article (publication date: August 1997)

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

Sanfilippo type A: new clinical manifestations and neuro-imaging findings in patients from the same family in Israel: a case report

scientific article published on 28 February 2014

Screening in ALS and FTD patients reveals 3 novel UBQLN2 mutations outside the PXX domain and a pure FTD phenotype

scientific article published on 11 August 2012

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

scientific article published on 14 January 2008

Self-rated health status in spinocerebellar ataxia--results from a European multicenter study

scientific article

Severe orthostatic dysregulation associated with Wolfram syndrome

scientific article published on 19 May 2010

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)

Spectrin mutations in spinocerebellar ataxia (SCA).

scientific article published on August 2006

Speech and swallowing abnormalities in adults with POLG associated ataxia (POLG-A).

scientific article published on 17 June 2017

Spina Bifida

Spinal cord atrophy in spinocerebellar ataxia type 3 and 6 : impact on clinical disability

scientific article published on 05 June 2008

Spinocerebellar ataxia type 1 (SCA1): new pathoanatomical and clinico‐pathological insights ⬇️

scientific article published on December 1, 2012

Spinocerebellar ataxia type 11 (SCA11) is an uncommon cause of dominant ataxia among French and German kindreds.

scientific article

Spinocerebellar ataxia type 15: diagnostic assessment, frequency, and phenotypic features

scientific article published in March 2011

Spinocerebellar ataxia type 3 (SCA3): thalamic neurodegeneration occurs independently from thalamic ataxin-3 immunopositive neuronal intranuclear inclusions

scientific article published in July 2006

Spinocerebellar ataxia type 36 exists in diverse populations and can be caused by a short hexanucleotide GGCCTG repeat expansion

scientific article published on 4 December 2014

Spinocerebellar ataxia type 6: genotype and phenotype in German kindreds ⬇️

scientific article published on January 1, 1998

Spinocerebellar ataxia types 1, 2, 3 and 6: the clinical spectrum of ataxia and morphometric brainstem and cerebellar findings

scientific article published in March 2012

Standardized Assessment of Hereditary Ataxia Patients in Clinical Studies

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

scientific article (publication date: 2013)

Supracubital perineurioma misdiagnosed as carpal tunnel syndrome: case report

scientific article

Survival in patients with spinocerebellar ataxia types 1, 2, 3, and 6 (EUROSCA): a longitudinal cohort study

scientific article published on 13 March 2018

Sustained dopaminergic response of parkinsonism and depression in POLG-associated parkinsonism

scientific article published in January 2010

TBK1 Mutation Spectrum in an Extended European Patient Cohort with Frontotemporal Dementia and Amyotrophic Lateral Sclerosis

scientific article published on 23 December 2016

TSFM mutations cause a complex hyperkinetic movement disorder with strong relief by cannabinoids

scientific article published on 29 September 2018

Targeted high-throughput sequencing identifies a TARDBP mutation as a cause of early-onset FTD without motor neuron disease

scientific article published on 29 October 2013

Teaching NeuroImages: MRI guides genetics: leukoencephalopathy with brainstem and spinal cord involvement (LBSL).

scientific article published in April 2013

The effectiveness of allied health care in patients with ataxia: a systematic review

scientific article published on 16 April 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 human G93A SOD1 phenotype closely resembles sporadic amyotrophic lateral sclerosis

scientific article

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

Thickening of the peripheral nerves in metachromatic leukodystrophy

scientific article published on 14 July 2016

To die or not to die SGK1-sensitive ORAI/STIM in cell survival.

scientific article

Treatable inherited rare movement disorders

scientific article

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

Variant in the sequence of the LINGO1 gene confers risk of essential tremor

scientific journal article

Video game-based coordinative training improves ataxia in children with degenerative ataxia

scientific article published on 31 October 2012

Videogame-based coordinative training can improve advanced, multisystemic early-onset ataxia

scientific article published on 30 August 2013

Visualization, quantification and correlation of brain atrophy with clinical symptoms in spinocerebellar ataxia types 1, 3 and 6.

scientific article published on 22 July 2009

X-linked Charcot-Marie-Tooth disease, Arts syndrome, and prelingual non-syndromic deafness form a disease continuum: evidence from a family with a novel PRPS1 mutation

scientific article

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