0000000000420387

AUTHOR

Jochen H. Weishaupt

showing 3 related works from this author

Genome-wide Analyses Identify KIF5A as a Novel ALS Gene

2018

© 2018 Elsevier Inc.

MaleAls geneGenome-wide association studyFAMILIAL ALSALS; axonal transport; cargo; GWAS; KIF5A; WES; WGS0302 clinical medicine80 and overPsychologyGWASKIF5AAetiologycargoAged 80 and over0303 health sciencesFrench ALS ConsortiumKinesinKINESIN HEAVY-CHAINCognitive Sciencesaxonal transportHumanHereditary spastic paraplegiaNeuroscience(all)Single-nucleotide polymorphismTARGETED DISRUPTIONArticle03 medical and health sciencesGeneticsHumansAmino Acid SequenceLoss functionAgedHEXANUCLEOTIDE REPEATNeuroscience (all)MUTATIONSAmyotrophic Lateral Sclerosis3112 Neurosciences1702 Cognitive Sciencemedicine.diseaseITALSGEN ConsortiumAnswer ALS Foundation030104 developmental biologyALS Sequencing ConsortiumHuman medicine1109 Neurosciences030217 neurology & neurosurgery0301 basic medicineALS; GWAS; KIF5A; WES; WGS; axonal transport; cargo[SDV]Life Sciences [q-bio]KinesinsNeurodegenerativeGenetic analysisGenomeAMYOTROPHIC-LATERAL-SCLEROSIS3124 Neurology and psychiatryCohort StudiesPathogenesisLoss of Function MutationMissense mutation2.1 Biological and endogenous factorsAmyotrophic lateral sclerosisNYGC ALS ConsortiumGeneticsGeneral NeuroscienceALS axonal transport cargo GWAS KIF5A WES WGSMiddle AgedPhenotypeSettore MED/26 - NEUROLOGIANeurologicalProject MinE ALS Sequencing ConsortiumKinesinWESFemaleAdultBiologyGENOTYPE IMPUTATIONALS; axonal transport; cargo; GWAS; KIF5A; WES; WGS; Adult; Aged; Aged 80 and over; Amino Acid Sequence; Amyotrophic Lateral Sclerosis; Cohort Studies; Female; Genome-Wide Association Study; Humans; Kinesin; Loss of Function Mutation; Male; Middle Aged; Young AdultNOYoung AdultRare DiseasesmedicineSLAGEN ConsortiumGene030304 developmental biologyClinical Research in ALS and Related Disorders for Therapeutic Development (CReATe) ConsortiumNeurology & NeurosurgeryHuman GenomeNeurosciencesAXONAL-TRANSPORTBrain DisordersALS; axonal transport; cargo; GWAS; KIF5A; WES; WGS;Family memberDNA-DAMAGEMOTOR-NEURONS3111 BiomedicineCohort StudieALSGenomic Translation for ALS Care (GTAC) ConsortiumWGSAmyotrophic Lateral SclerosiGenome-Wide Association StudyALS; axonal transport; cargo; GWAS; KIF5A; WES; WGS; Neuroscience (all)
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Effect of high-caloric nutrition on serum neurofilament light chain levels in amyotrophic lateral sclerosis

2020

Recent publications showed that circulating neurofilaments (Nfs) may be used as a diagnostic biomarker distinguishing amyotrophic lateral sclerosis (ALS) from ALS mimics with high sensitivity and specificity.1–3 Furthermore, it has been shown that patients with higher Nf levels show faster disease progression1 and shorter survival.2 3 Nf levels remain rather stable during the course of disease.2 Current literature suggests that the diagnostic value of neurofilament light chains (NfL) and phosphorylated neurofilament heavy chains in cerebrospinal fluid is about equal, whereas in blood NfL seems to be superior.4 In this study, we investigated the effect of a high-caloric fatty diet (HCFD) on …

Malemedicine.medical_specialtyNeurofilament[SDV]Life Sciences [q-bio]blood [Neurofilament Proteins]PlaceboDiet High-FatGastroenterology03 medical and health sciencesblood [Amyotrophic Lateral Sclerosis]0302 clinical medicineNeurofilament ProteinsInternal medicinePost-hoc analysismedicineHumansddc:610Amyotrophic lateral sclerosisMESH: Neurofilament ProteinsComputingMilieux_MISCELLANEOUSMESH: Amyotrophic Lateral SclerosisRandomized Controlled Trials as TopicMESH: HumansMESH: Middle Agedbusiness.industryTherapeutic effectAmyotrophic Lateral SclerosisMiddle Agedmedicine.diseaseMESH: Male3. Good healthRiluzole[SDV] Life Sciences [q-bio]Psychiatry and Mental healthMESH: Diet High-FatMESH: Randomized Controlled Trials as TopicTolerabilitystatistics & numerical data [Randomized Controlled Trials as Topic]motor neuron diseasePopulation studySurgeryFemaleNeurology (clinical)businessMESH: Female030217 neurology & neurosurgerymedicine.drug
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Effect of High‐Caloric Nutrition on Survival in Amyotrophic Lateral Sclerosis

2019

International audience; Objective: Weight loss has been identified as a negative prognostic factor in amyotrophic lateral sclerosis, but there is no evidence regarding whether a high-caloric diet increases survival. Therefore, we sought to evaluate the efficacy of a high-caloric fatty diet (HCFD) for increasing survival.Methods: A 1:1 randomized, placebo-controlled, parallel-group, double-blinded trial (LIPCAL-ALS study) was conducted between February 2015 and September 2018. Patients were followed up at 3, 6, 9, 12, 15, and 18 months after randomization. The study was performed at 12 sites of the clinical and scientific network of German motor neuron disease centers (ALS/MND-NET). Eligible…

Male0301 basic medicinemortality [Amyotrophic Lateral Sclerosis]MESH: Combined Modality Therapy[SDV]Life Sciences [q-bio]law.invention0302 clinical medicineMESH: RiluzoleRandomized controlled triallawdiet therapy [Amyotrophic Lateral Sclerosis]Clinical endpointMedicineMESH: Double-Blind Methodtherapeutic use [Riluzole]MESH: Amyotrophic Lateral Sclerosismethods [Combined Modality Therapy]education.field_of_studyRiluzoleMESH: Middle AgedHazard ratioMESH: Neuroprotective AgentsMiddle Agedtherapeutic use [Neuroprotective Agents]Combined Modality Therapy3. Good healthRiluzole[SDV] Life Sciences [q-bio]Neuroprotective AgentsNeurologyMESH: Survival AnalysisFemalemedicine.drugmortality [Diet High-Fat]medicine.medical_specialtyPopulationDiet High-FatPlacebo03 medical and health sciencesDouble-Blind MethodInternal medicineHumansddc:610educationSurvival analysisMESH: Humansdrug therapy [Amyotrophic Lateral Sclerosis]business.industryAmyotrophic Lateral SclerosisSurvival AnalysisConfidence intervalMESH: MaleMESH: Diet High-Fat030104 developmental biologyNeurology (clinical)businessMESH: Female030217 neurology & neurosurgery
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