S. Klebe

发表

A randomized trial of deep-brain stimulation for Parkinson's disease.

G. Deuschl, L. Wojtecki, A. Schnitzler, 2006, The New England journal of medicine.

Hereditary spastic paraplegia: Clinicogenetic lessons from 608 patients

Zacharias Kohl, Jan Kassubek, Stephan Züchner, 2016, Annals of neurology.

Prevalence of gait disorders in hospitalized neurological patients

Günther Deuschl, Henning Stolze, G. Deuschl, 2005, Movement disorders : official journal of the Movement Disorder Society.

Force overflow and levodopa-induced dyskinesias in Parkinson's disease.

G. Deuschl, P. Krack, J. Herzog, 2002, Brain : a journal of neurology.

Chapter 24 Clinical neurophysiology and pathophysiology of Parkinsonian tremor

G. Deuschl, J. Volkmann, S. Klebe, 2003 .

Typical features of cerebellar ataxic gait

G. Deuschl, S. Klebe, R. Wenzelburger, 2002, Journal of neurology, neurosurgery, and psychiatry.

Influence of alcohol on gait in patients with essential tremor

G. Deuschl, J. Volkmann, S. Klebe, 2005, Neurology.

RAD51 haploinsufficiency causes congenital mirror movements in humans.

S. Meunier, M. Vidailhet, S. Klebe, 2012, American journal of human genetics.

Falls in frequent neurological diseases

G. Deuschl, S. Klebe, H. Stolze, 2004, Journal of Neurology.

High nigral iron deposition in LRRK2 and Parkin mutation carriers using R2* relaxometry

S. Lehéricy, M. Vidailhet, S. Klebe, 2015, Movement disorders : official journal of the Movement Disorder Society.

Falls in frequent neurological diseases--prevalence, risk factors and aetiology.

Günther Deuschl, Henning Stolze, G. Deuschl, 2004, Journal of neurology.

De Novo and Dominantly Inherited SPTAN1 Mutations Cause Spastic Paraplegia and Cerebellar Ataxia

S. Klebe, S. Züchner, A. Durr, 2022, Movement disorders : official journal of the Movement Disorder Society.

TDP‐43 as structure‐based biomarker in amyotrophic lateral sclerosis

S. Klebe, R. Gold, K. Gerwert, 2020, Annals of clinical and translational neurology.

SARS-CoV-2, COVID-19 and Parkinson’s Disease—Many Issues Need to Be Clarified—A Critical Review

S. Klebe, L. Tönges, M. Fleischer, 2022, Brain sciences.

Spastic paraplegia 5: Locus refinement, candidate gene analysis and clinical description

S. Klebe, A. Durr, S. Hanein, 2007, American journal of medical genetics. Part B, Neuropsychiatric genetics : the official publication of the International Society of Psychiatric Genetics.

Force over ̄ ow and levodopa-induced dyskinesias in Parkinson ' s disease

P. Krack, J. Herzog, S. Klebe, 2002 .

A multicenter study of glucocerebrosidase mutations in dementia with Lewy bodies.

M. Nalls, A. Singleton, T. Wolfsberg, 2013, JAMA neurology.

Methylphenidate fails to improve gait and muscle tone in patients with sporadic and hereditary spastic paraplegia

Günther Deuschl, Henning Stolze, G. Deuschl, 2006, Movement disorders : official journal of the Movement Disorder Society.

Hand coordination following capsular stroke.

Günther Deuschl, Henning Stolze, Florian Kopper, 2004, Brain : a journal of neurology.

Objective assessment of gait after intrathecal baclofen in hereditary spastic paraplegia

G. Deuschl, J. Volkmann, S. Klebe, 2005, Journal of Neurology.

Safety and efficacy of rasagiline as an add-on therapy to riluzole in patients with amyotrophic lateral sclerosis: a randomised, double-blind, parallel-group, placebo-controlled, phase 2 trial

S. Klebe, U. Bogdahn, A. Winkler, 2018, The Lancet Neurology.

Unstable TTTTA/TTTCA expansions in MARCH6 are associated with Familial Adult Myoclonic Epilepsy type 3

Thomas Bourgeron, Christopher Schröder, Bernhard Horsthemke, 2019, Nature Communications.

KIF1A missense mutations in SPG30, an autosomal recessive spastic paraplegia: distinct phenotypes according to the nature of the mutations

G. Gyapay, S. Klebe, A. Durr, 2012, European Journal of Human Genetics.

Spastic paraplegia gene 7 in patients with spasticity and/or optic neuropathy.

A. Destée, S. Klebe, A. Durr, 2012, Brain : a journal of neurology.

Anti-GFAP-antibody positive postinfectious acute cerebellar ataxia and myoclonus after COVID-19: a case report

S. Klebe, M. Köhrmann, C. Kleinschnitz, 2021, Therapeutic advances in neurological disorders.

ALS and MMN mimics in patients with BSCL2 mutations: the expanding clinical spectrum of SPG17 hereditary spastic paraplegia

J. Volkmann, S. Klebe, C. Sommer, 2016, Journal of Neurology.

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

S. Klebe, R. Schüle, L. Schöls, 2013, Orphanet Journal of Rare Diseases.

Reply: Parkinson’s disease in GTP cyclohydrolase 1 mutation carriers

J. Hardy, S. Klebe, K. Bhatia, 2014, Brain : a journal of neurology.

Blood-based biomarker in Parkinson’s disease: potential for future applications in clinical research and practice

S. Klebe, P. Riederer, D. Pedrosa, 2022, Journal of Neural Transmission.

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

S. Klebe, R. Schüle, L. Schöls, 2015, Orphanet Journal of Rare Diseases.

Hereditary spastic paraplegia with thin corpus callosum: reduction of the SPG11 interval and evidence for further genetic heterogeneity.

S. Klebe, A. Durr, N. Elleuch, 2006, Archives of neurology.

ADHD‐associated PARK2 copy number variants: A pilot study on gene expression and effects of supplementary deprivation in patient‐derived cell lines

S. Klebe, S. Kittel-Schneider, A. Reif, 2022, American journal of medical genetics. Part B, Neuropsychiatric genetics : the official publication of the International Society of Psychiatric Genetics.

Congenital mirror movements: Mutational analysis of RAD51 and DCC in 26 cases

S. Rossi, L. Defebvre, M. Vidailhet, 2014, Neurology.

Axonal integrity of corticospinal projections to the upper limbs in patients with pure hereditary spastic paraplegia

S. Klebe, G. Deuschl, N. Lang, 2011, Clinical Neurophysiology.

Genotype‐phenotype correlation in a novel ABHD12 mutation underlying PHARC syndrome

S. Klebe, A. Thimm, C. Kleinschnitz, 2020, Journal of the peripheral nervous system : JPNS.

Intermediate repeat expansions of TBP and STUB1: Genetic modifier or pure digenic inheritance in spinocerebellar ataxias?

S. Klebe, C. van Broeckhoven, A. Durr, 2022, Genetics in medicine : official journal of the American College of Medical Genetics.

Novel compound heterozygous synaptojanin‐1 mutation causes l‐dopa‐responsive dystonia‐parkinsonism syndrome

C. Weiller, S. Klebe, M. Rijntjes, 2017, Movement disorders : official journal of the Movement Disorder Society.

Parkinson’s disease in GTP cyclohydrolase 1 mutation carriers

A. Singleton, J. Hardy, P. Krack, 2014, Brain : a journal of neurology.

Specifically neuropathic Gaucher's mutations accelerate cognitive decline in Parkinson's

R. Barker, J. Growdon, B. Hyman, 2016, Annals of neurology.

Prediction of cognition in Parkinson's disease with a clinical–genetic score: a longitudinal analysis of nine cohorts

D. German, R. Barker, R. Sperling, 2017, The Lancet Neurology.

New mutations in protein kinase Cγ associated with spinocerebellar ataxia type 14

Y. Agid, S. Klebe, A. Durr, 2005, Annals of neurology.

Association of Essential Tremor With Novel Risk Loci

M. Hallett, J. Jankovic, G. Deuschl, 2022, JAMA neurology.

Autosomal recessive spastic paraplegia (SPG30) with mild ataxia and sensory neuropathy maps to chromosome 2q37.3.

S. Klebe, P. Bastien, A. Durr, 2006, Brain : a journal of neurology.

Mapping of a new form of pure autosomal recessive spastic paraplegia (SPG28)

S. Klebe, M. Ruberg, A. Durr, 2005, Annals of neurology.

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

S. Klebe, P. Bauer, R. Schüle, 2012, neurogenetics.

Comprehensive analysis of the mutation spectrum in 301 German ALS families

S. Klebe, T. Meitinger, T. Strom, 2018, Journal of Neurology, Neurosurgery, and Psychiatry.

Genetics of Recessive Ataxias

S. Klebe, M. Anheim, 2015 .

A novel locus for autosomal recessive spastic ataxia on chromosome 17p

S. Klebe, A. Durr, S. Hanein, 2007, Human Genetics.

PARKIN Inactivation Links Parkinson's Disease to Melanoma.

L. Thomas, S. Klebe, R. Kumar, 2016, Journal of the National Cancer Institute.

Refinement of the SPG15 candidate interval and phenotypic heterogeneity in three large Arab families

S. Klebe, D. Zélénika, A. Durr, 2007, Neurogenetics.

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

S. Klebe, S. Züchner, B. Bender, 2015, Journal of Neurology.

Chorea-Acanthocytosis Presenting as Autosomal Recessive Epilepsy in a Family With a Novel VPS13A Mutation

C. Weiller, S. Klebe, M. Rijntjes, 2019, Front. Neurol..

Retinal changes in Parkinson's disease and glaucoma.

J. Volkmann, S. Klebe, I. Schmidtmann, 2018, Parkinsonism & related disorders.

The Val158Met COMT polymorphism is a modifier of the age at onset in Parkinson's disease with a sexual dimorphism

M. Nalls, A. Singleton, G. Deuschl, 2013, Journal of Neurology, Neurosurgery & Psychiatry.

Dermal phospho-alpha-synuclein deposits confirm REM sleep behaviour disorder as prodromal Parkinson’s disease

J. Volkmann, S. Klebe, W. Oertel, 2017, Acta Neuropathologica.

Codon 101 of PRKCG, a preferential mutation site in SCA14

G. Deuschl, S. Klebe, R. Baron, 2007, Movement disorders : official journal of the Movement Disorder Society.

Distinctive distribution of phospho‐alpha‐synuclein in dermal nerves in multiple system atrophy

J. Volkmann, S. Klebe, C. Sommer, 2015, Movement disorders : official journal of the Movement Disorder Society.

Monogenetic Forms of Parkinson’s Disease – Bridging the Gap Between Genetics and Biomarkers

S. Klebe, L. Tönges, E. Kwon, 2022, Frontiers in Aging Neuroscience.

Genome-wide association study in essential tremor identifies three new loci

Dietrich Haubenberger, Mark Hallett, Günther Deuschl, 2016, Brain : a journal of neurology.

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

Günther Deuschl, Thomas Gasser, Kaare Christensen, 2012, Neurology.

GABAA receptor‐ and GABA transporter polymorphisms and risk for essential tremor

G. Deuschl, S. Klebe, D. Lorenz, 2011, European journal of neurology.

LINGO1 is not associated with Parkinson's disease in German patients

G. Deuschl, S. Klebe, D. Lorenz, 2010, American journal of medical genetics. Part B, Neuropsychiatric genetics : the official publication of the International Society of Psychiatric Genetics.

LINGO1 polymorphisms are associated with essential tremor in Europeans

G. Deuschl, S. Klebe, D. Lorenz, 2010, Movement disorders : official journal of the Movement Disorder Society.

Dopamine receptor D3 gene and essential tremor in large series of German, Danish and French patients

G. Deuschl, S. Klebe, D. Lorenz, 2009, European Journal of Human Genetics.

ORF 72 repeat expansions are a rare genetic cause of parkinsonism Running head : C 9 ORF 72 repeat expansion in parkinsonism

A. Destée, M. Vidailhet, P. Pollak, 2018 .

Longitudinal analysis of impulse control disorders in Parkinson disease

M. Vidailhet, S. Klebe, O. Rascol, 2018, Neurology.

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

S. Klebe, R. Schüle, L. Schöls, 2009, neurogenetics.

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

S. Klebe, A. Durr, P. Bauer, 2010, European Journal of Human Genetics.

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

S. Klebe, R. Schüle, L. Schöls, 2008, Journal of the Neurological Sciences.

NIPA1 (SPG6) mutations are a rare cause of autosomal dominant spastic paraplegia in Europe

S. Klebe, P. Vermersch, A. Durr, 2007, Neurogenetics.

Hereditary Spastic Paraplegia -clinico-genetic lessons from 608 patients: Key Concepts in Hereditary Spastic Paraplegia

S. Klebe, S. Züchner, P. Bauer, 2016 .

Gait analysis of sporadic and hereditary spastic paraplegia

G. Deuschl, F. Kopper, G. Deuschl, 2004, Journal of Neurology.

Adult-Onset Niemann–Pick Disease Type C: Rapid Treatment Initiation Advised but Early Diagnosis Remains Difficult

C. Weiller, J. Volkmann, S. Klebe, 2017, Front. Neurol..

Non-Motor Symptoms of Essential Tremor Are Independent of Tremor Severity and Have an Impact on Quality of Life

J. Volkmann, S. Klebe, C. Malsch, 2016, Tremor and other hyperkinetic movements.

EIF4G1 in familial Parkinson's disease: pathogenic mutations or rare benign variants?

A. Bonnet, M. Vidailhet, S. Klebe, 2012, Neurobiology of Aging.

Clinical, neuropathological, and genetic characterization of STUB1 variants in cerebellar ataxias: a frequent cause of predominant cognitive impairment

S. Klebe, C. Duyckaerts, C. van Broeckhoven, 2020, Genetics in Medicine.

Clinical, neuropathological, and genetic characterization of STUB1 variants in cerebellar ataxias: a frequent cause of predominant cognitive impairment

S. Klebe, C. Duyckaerts, C. van Broeckhoven, 2020, Genetics in Medicine.

Ataxia and autonomic dysfunction as presenting symptoms in late-onset Alexander disease.

C. Weiller, S. Klebe, M. Rijntjes, 2017, Neurology. Clinical practice.

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

S. Klebe, P. Bauer, R. Schüle, 2012, neurogenetics.

Adult-Onset Alexander Disease: New Causal Sequence Variant in the GFAP Gene.

S. Klebe, K. Egger, C. Kleinschnitz, 2022, Neurology. Genetics.

Examining the Reserve Hypothesis in Parkinson's Disease: A Longitudinal Study

M. Vidailhet, S. Klebe, O. Rascol, 2019, Movement disorders : official journal of the Movement Disorder Society.

Familial adult myoclonic epilepsy (FAME): clinical features, molecular characteristics, pathophysiological aspects and diagnostic work-up

S. Klebe, C. Depienne, Lorenz Peters, 2021, Medizinische Genetik.

Management of delirium in Parkinson’s disease

S. Klebe, S. Lorenzl, G. Ebersbach, 2019, Journal of Neural Transmission.

Parkinson's disease polygenic risk score is not associated with impulse control disorders: A longitudinal study.

A. Bonnet, M. Vidailhet, S. Klebe, 2020, Parkinsonism & related disorders.

Effects of bilateral subthalamic nucleus stimulation on parkinsonian gait

J. Raethjen, W. Hamel, G. Deuschl, 2001, Neurology.

Resource Utilization of Patients with Parkinson’s Disease in the Late Stages of the Disease in Germany: Data from the CLaSP Study

S. Klebe, S. Lorenzl, R. Dodel, 2021, PharmacoEconomics.

Early‐ and late‐onset essential tremor patients represent clinically distinct subgroups

G. Deuschl, S. Klebe, D. Lorenz, 2016, Movement disorders : official journal of the Movement Disorder Society.

Fast and reliable detection of repeat expansions in spinocerebellar ataxia using exomes

S. Klebe, A. Durr, A. Brice, 2023, Journal of Medical Genetics.

Inertial Gait Sensors to Measure Mobility and Functioning in Hereditary Spastic Paraplegia

S. Klebe, B. Eskofier, R. Schüle, 2022, Neurology.

Disease severity affects quality of life of hereditary spastic paraplegia patients

J. Kassubek, S. Klebe, R. Schüle, 2012, European journal of neurology.

Loss of VPS13C Function in Autosomal-Recessive Parkinsonism Causes Mitochondrial Dysfunction and Increases PINK1/Parkin-Dependent Mitophagy.

Simon C. Potter, Miguel Ángel Martínez, C. Spencer, 2016, American journal of human genetics.

The cardiomyopathy in Friedreich's ataxia - New biomarker for staging cardiac involvement.

S. Klebe, F. Weidemann, G. Ertl, 2015, International journal of cardiology.

Clinical and genetic heterogeneity in hereditary spastic paraplegias: from SPG1 to SPG72 and still counting.

S. Klebe, C. Depienne, G. Stevanin, 2015, Revue neurologique.

A novel DCC mutation and genetic heterogeneity in congenital mirror movements

S. Meunier, M. Vidailhet, S. Klebe, 2011, Neurology.

Mutations in HTRA2 are not a common cause of familial classic ET

G. Deuschl, S. Klebe, D. Lorenz, 2015, Movement disorders : official journal of the Movement Disorder Society.

Evaluation of a screening instrument for essential tremor

G. Deuschl, S. Klebe, D. Lorenz, 2008, Movement disorders : official journal of the Movement Disorder Society.

A multicenter study of glucocerebrosidase mutations in dementia with Lewy bodies.

M. Nalls, A. Singleton, T. Wolfsberg, 2013, JAMA neurology.

PARKIN Inactivation Links Parkinson's Disease to Melanoma.

L. Thomas, S. Klebe, R. Kumar, 2016, Journal of the National Cancer Institute.

Distinctive distribution of phospho‐alpha‐synuclein in dermal nerves in multiple system atrophy

J. Volkmann, S. Klebe, C. Sommer, 2015, Movement disorders : official journal of the Movement Disorder Society.

Frequency and phenotype of SPG11 and SPG15 in complicated hereditary spastic paraplegia

J. Winkler, S. Klebe, P. Bauer, 2009, Journal of Neurology, Neurosurgery & Psychiatry.

Advancing molecular, phenotypic and mechanistic insights of FGF14 pathogenic expansions (SCA27B)

S. Klebe, U. Roggenbuck, S. Pechlivanis, 2024, medRxiv.

The impact of rare variants in FUS in essential tremor

G. Deuschl, S. Klebe, D. Lorenz, 2015, Movement disorders : official journal of the Movement Disorder Society.

Atypical Presentation of Rapid‐onset Dystonia‐parkinsonism (DYT12) Unresponsive to Deep Brain Stimulation of the Subthalamic Nucleus

C. Weiller, S. Klebe, M. Rijntjes, 2018, Movement disorders clinical practice.

Spastic paraplegia gene 7 in patients with spasticity and/or optic neuropathy.

A. Destée, S. Klebe, A. Durr, 2012, Brain : a journal of neurology.

Identification of VPS35 mutations replicated in French families with Parkinson disease

S. Klebe, A. Dürr, A. Brice, 2012, Neurology.

Expanding the phenotypic spectrum of CLCN2-related leucoencephalopathy and ataxia

S. Klebe, C. Depienne, P. Braga-Neto, 2023, Brain communications.