Rezultati pretrage - Matthis Synofzik
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As Frequent as Polyglutamine Spinocerebellar Ataxias: <scp>SCA27B</scp> in a Large German Autosomal Dominant Ataxia Cohort od Holger Hengel, David Pellerin, Carlo Wilke, Zofia Fleszar, Bernard Brais, Tobias B. Haack, Andreas Traschütz, Lüdger Schöls, Matthis Synofzik
Izdano 2023Carta -
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Rare Variants in Neurodegeneration Associated Genes Revealed by Targeted Panel Sequencing in a German ALS Cohort od Stefanie Krüger, Florian Battke, Andrea Sprecher, Marita Munz, Matthis Synofzik, Lüdger Schöls, Thomas Gasser, Torsten Grehl, Johannes Prudlo, Saskia Biskup
Izdano 2016Artigo -
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Preparing n-of-1 Antisense Oligonucleotide Treatments for Rare Neurological Diseases in Europe: Genetic, Regulatory, and Ethical Perspectives od Matthis Synofzik, Willeke M. C. van Roon‐Mom, Georg Marckmann, Hermine A. van Duyvenvoorde, Holm Graeßner, Rebecca Schüle, Annemieke Aartsma‐Rus
Izdano 2021Artigo -
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Real‐Life Turning Movements Capture Subtle Longitudinal and Preataxic Changes in Cerebellar Ataxia od Annika Thierfelder, Jens Seemann, Natalie John, Florian Harmuth, Martin A. Giese, Rebecca Schüle, Lüdger Schöls, Dagmar Timmann, Matthis Synofzik, Winfried Ilg
Izdano 2022Artigo
Alati za pretragu:
Povezani predmeti
Medicine
Biology
Genetics
Neuroscience
Disease
Pathology
Psychology
Internal medicine
Ataxia
Gene
Psychiatry
Dementia
Frontotemporal dementia
Spinocerebellar ataxia
Cerebellar ataxia
Phenotype
Mutation
Cohort
Physical medicine and rehabilitation
Allele
C9orf72
Atrophy
Trinucleotide repeat expansion
Biomarker
Neurodegeneration
Pediatrics
Oncology
Cognition
Frontotemporal lobar degeneration
Missense mutation