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Ludger Schöls (1962-)

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Name	Ludger Schöls
Zeit	1962- (Lebensdaten)
Ort	Münster (Westf) (Geburtsort) Deutschland
Geschlecht	männlich
Akademischer Grad bzw. Titel	PD Dr. med.
Beruf	Arzt (charakteristischer Beruf) Neurologe
Variante	Ludger Johannes Schöls
Weitere Angaben	1998, Habilitation in the Faculty of Medicine, Ruhr-University Bochum; 06.1989 –12.199, Department of Neurology, St. Josef Hospital, Ruhr-University Bochum; 01.1994 - 12.1994 Westfälisches Zentrum für Psychiatrie, Dortmund; 01.1995 - 12.2003 Neurology, St. Josef Hospital, Ruhr-University Bochum; 01.2004 - present Professor of Clinical Neurogenetics Center of Neurology and Hertie-Institute for Clinical Brain Research University of Tübingen
Datensatztyp	Person
GND-Nummer	1035530619
Datensatz-ID	1035530619
Beteiligt an alle anzeigen The parkin V380L variant is a genetic modifier of Machado–Joseph disease with impact on mitophagy Vitamin D3 deficiency and osteopenia in spastic paraplegia type 5 indicate impaired bone homeostasis Neuropathy in ARSACS is demyelinating but without typical nerve enlargement in nerve ultrasound Human organoid model of pontocerebellar hypoplasia 2a recapitulates brain region-specific size differences Correction to: The frequency of non‑motor symptoms in SCA3 and their association with disease severity and lifestyle factors Seroprevalence of autoimmune antibodies in degenerative ataxias: a broad, disease-controlled screening in 456 subjects Short-read genome sequencing allows ‘en route’ diagnosis of patients with atypical Friedreich ataxia TR-FRET-Based Immunoassay to Measure Ataxin-2 as a Target Engagement Marker in Spinocerebellar Ataxia Type 2 Genetische Diagnostik zerebellärer Ataxien Patient-reported, health economic and psychosocial outcomes in patients with Friedreich ataxia (PROFA): protocol of an observational study using momentary data assessments via mobile health app Therapie und Verlauf neurologischer Erkrankungen Therapie und Verlauf neurologischer Erkrankungen Therapie und Verlauf neurologischer Erkrankungen Proof of principle for the clinical use of a CE-certified automatic imaging analysis tool in rare diseases studying hereditary spastic paraplegia type 4 (SPG4) Prediction of the disease course in Friedreich ataxia The frequency of non-motor symptoms in SCA3 and their association with disease severity and lifestyle factors “Ears of the lynx” sign and thin corpus callosum on MRI in heterozygous SPG11 mutation carriers Clinical management guidelines for Friedreich ataxia: best practice in rare diseases Differential Temporal Dynamics of Axial and Appendicular Ataxia in SCA3 Prediction of the disease course in Friedreich ataxia Progressive Spinal Cord Degeneration in Friedreich's Ataxia : Results from ENIGMA-Ataxia The frequency of non-motor symptoms in SCA3 and their association with disease severity and lifestyle factors Chromium and cobalt intoxication mimicking mitochondriopathy Characterization of Lifestyle in Spinocerebellar Ataxia Type 3 and Association with Disease Severity Polyglutamine-Expanded Ataxin-3: A Target Engagement Marker for Spinocerebellar Ataxia Type 3 in Peripheral Blood Spinocerebellar ataxia type 14 : refining clinicogenetic diagnosis in a rare adult-onset disorder Spinocerebellar ataxia type 14: refining clinicogenetic diagnosis in a rare adult-onset disorder The ARCA registry: a collaborative global platform for advancing trial readiness in autosomal recessive cerebellar ataxias The European Reference Network for Rare Neurological Diseases PolyQ-expanded ataxin-3 protein levels in peripheral blood mononuclear cells correlate with clinical parameters in SCA3: a pilot study Onset features and time to diagnosis in Friedreich’s Ataxia Neurofilaments in spinocerebellar ataxia type 3: blood biomarkers at the preataxic and ataxic stage in humans and mice Confirmation of TACO1 as a leigh syndrome disease gene in two additional families NfL and pNfH are increased in Friedreich’s ataxia Non-motor symptoms are relevant and possibly treatable in hereditary spastic paraplegia type 4 (SPG4) Protocol of a randomized, double-blind, placebo-controlled, parallel-group, multicentre study of the efficacy and safety of nicotinamide in patients with Friedreich ataxia (NICOFA) Application of Quantitative Motor Assessments in Friedreich Ataxia and Evaluation of Their Relation to Clinical Measures Phenotypic variation between siblings with Metachromatic Leukodystrophy Speech treatment improves dysarthria in multisystemic ataxia: a rater-blinded, controlled pilot-study in ARSACS Pattern of Cerebellar Atrophy in Friedreich’s Ataxia—Using the SUIT Template Nerve ultrasound characterizes AMN polyneuropathy as inhomogeneous and focal hypertrophic Coordination and timing deficits in speech and swallowing in autosomal recessive spastic ataxia of Charlevoix–Saguenay (ARSACS) Long-term evolution of patient-reported outcome measures in spinocerebellar ataxias De novo ITPR1 variants are a recurrent cause of early-onset ataxia, acting via loss of channel function Serum neurofilament light is increased in multiple system atrophy of cerebellar type and in repeat-expansion spinocerebellar ataxias: a pilot study Hemodialysis in MNGIE transiently reduces serum and urine levels of thymidine and deoxyuridine, but not CSF levels and neurological function STUB1/CHIP mutations cause Gordon Holmes syndrome as part of a widespread multisystemic neurodegeneration: evidence from four novel mutations 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 Zentren für seltene neurologische Erkrankungen Clinical and genetic characteristics of sporadic adult-onset degenerative ataxia Therapie und Verlauf neurologischer Erkrankungen Therapie und Verlauf neurologischer Erkrankungen Identifying Niemann–Pick type C in early-onset ataxia: two quick clinical screening tools Parental mosaicism in another case of Dravet syndrome caused by a novel SCN1A deletion: a case report Electrophysiological characterisation of motor and sensory tracts in patients with hereditary spastic paraplegia (HSP) Peripheral Neuropathy in Spinocerebellar Ataxia Type 1, 2, 3, and 6 Imaging features in conventional MRI, spectroscopy and diffusion weighted images of hereditary diffuse leukoencephalopathy with axonal spheroids (HDLS) Rare mutations in SQSTM1 modify susceptibility to frontotemporal lobar degeneration Phenotype and frequency of STUB1 mutations: next-generation screenings in Caucasian ataxia and spastic paraplegia cohorts Sanfilippo type A: new clinical manifestations and neuro-imaging findings in patients from the same family in Israel: a case report

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Katalog der Deutschen Nationalbibliothek

Ludger Schöls (1962-)

The parkin V380L variant is a genetic modifier of Machado–Joseph disease with impact on mitophagy

Vitamin D3 deficiency and osteopenia in spastic paraplegia type 5 indicate impaired bone homeostasis

Neuropathy in ARSACS is demyelinating but without typical nerve enlargement in nerve ultrasound

Human organoid model of pontocerebellar hypoplasia 2a recapitulates brain region-specific size differences

Correction to: The frequency of non‑motor symptoms in SCA3 and their association with disease severity and lifestyle factors

Seroprevalence of autoimmune antibodies in degenerative ataxias: a broad, disease-controlled screening in 456 subjects

Short-read genome sequencing allows ‘en route’ diagnosis of patients with atypical Friedreich ataxia

TR-FRET-Based Immunoassay to Measure Ataxin-2 as a Target Engagement Marker in Spinocerebellar Ataxia Type 2

Genetische Diagnostik zerebellärer Ataxien

Patient-reported, health economic and psychosocial outcomes in patients with Friedreich ataxia (PROFA): protocol of an observational study using momentary data assessments via mobile health app

Therapie und Verlauf neurologischer Erkrankungen

Therapie und Verlauf neurologischer Erkrankungen

Therapie und Verlauf neurologischer Erkrankungen

Proof of principle for the clinical use of a CE-certified automatic imaging analysis tool in rare diseases studying hereditary spastic paraplegia type 4 (SPG4)

Prediction of the disease course in Friedreich ataxia

The frequency of non-motor symptoms in SCA3 and their association with disease severity and lifestyle factors

“Ears of the lynx” sign and thin corpus callosum on MRI in heterozygous SPG11 mutation carriers

Clinical management guidelines for Friedreich ataxia: best practice in rare diseases

Differential Temporal Dynamics of Axial and Appendicular Ataxia in SCA3

Prediction of the disease course in Friedreich ataxia

Progressive Spinal Cord Degeneration in Friedreich's Ataxia : Results from ENIGMA-Ataxia

The frequency of non-motor symptoms in SCA3 and their association with disease severity and lifestyle factors

Chromium and cobalt intoxication mimicking mitochondriopathy

Characterization of Lifestyle in Spinocerebellar Ataxia Type 3 and Association with Disease Severity

Polyglutamine-Expanded Ataxin-3: A Target Engagement Marker for Spinocerebellar Ataxia Type 3 in Peripheral Blood

Spinocerebellar ataxia type 14 : refining clinicogenetic diagnosis in a rare adult-onset disorder

Spinocerebellar ataxia type 14: refining clinicogenetic diagnosis in a rare adult-onset disorder

The ARCA registry: a collaborative global platform for advancing trial readiness in autosomal recessive cerebellar ataxias

The European Reference Network for Rare Neurological Diseases

PolyQ-expanded ataxin-3 protein levels in peripheral blood mononuclear cells correlate with clinical parameters in SCA3: a pilot study

Onset features and time to diagnosis in Friedreich’s Ataxia

Neurofilaments in spinocerebellar ataxia type 3: blood biomarkers at the preataxic and ataxic stage in humans and mice

Confirmation of TACO1 as a leigh syndrome disease gene in two additional families

NfL and pNfH are increased in Friedreich’s ataxia

Non-motor symptoms are relevant and possibly treatable in hereditary spastic paraplegia type 4 (SPG4)

Protocol of a randomized, double-blind, placebo-controlled, parallel-group, multicentre study of the efficacy and safety of nicotinamide in patients with Friedreich ataxia (NICOFA)

Application of Quantitative Motor Assessments in Friedreich Ataxia and Evaluation of Their Relation to Clinical Measures

Phenotypic variation between siblings with Metachromatic Leukodystrophy

Speech treatment improves dysarthria in multisystemic ataxia: a rater-blinded, controlled pilot-study in ARSACS

Pattern of Cerebellar Atrophy in Friedreich’s Ataxia—Using the SUIT Template

Nerve ultrasound characterizes AMN polyneuropathy as inhomogeneous and focal hypertrophic

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

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

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

Serum neurofilament light is increased in multiple system atrophy of cerebellar type and in repeat-expansion spinocerebellar ataxias: a pilot study

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

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

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

Zentren für seltene neurologische Erkrankungen

Clinical and genetic characteristics of sporadic adult-onset degenerative ataxia

Therapie und Verlauf neurologischer Erkrankungen

Therapie und Verlauf neurologischer Erkrankungen

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

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

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

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

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

Rare mutations in SQSTM1 modify susceptibility to frontotemporal lobar degeneration

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

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