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Person

Matthis Synofzik (1979-)

Neurologe

Name	Matthis Synofzik
Time	1979- (Date of birth and death)
Place	Marburg (Geburtsort) Deutschland
Academic degree	Dr. med. (Univ. Tübingen) (2006)
Profession	Neurologe (characteristic profession) Arzt
Variant	Matthis Benjamin Synofzik
Related	Philosophie (Studienfach)
Further information	Habil. Fach Neurologie an der Univ. Tübingen
Record type	Person
GND-Identifier	136837247
Record ID	136837247
Involved in show all Identification and characterisation of pathogenic and non-pathogenic FGF14 repeat expansions A common flanking variant is associated with enhanced stability of the FGF14-SCA27B repeat locus Plasma extracellular vesicle tau and TDP-43 as diagnostic biomarkers in FTD and ALS A systematic review of progranulin concentrations in biofluids in over 7,000 people—assessing the pathogenicity of GRN mutations and other influencing factors RFC1 repeat expansions in downbeat nystagmus syndromes: frequency and phenotypic profile Different inflammatory signatures based on CSF biomarkers relate to preserved or diminished brain structure and cognition Fronto-striatal alterations correlate with apathy severity in behavioral variant frontotemporal dementia Seroprevalence of autoimmune antibodies in degenerative ataxias: a broad, disease-controlled screening in 456 subjects Standards of Fluid Biomarker Collection and Pre-analytical Processes in Humans and Mice: Recommendations by the Ataxia Global Initiative Working Group on Biomarkers Short-read genome sequencing allows ‘en route’ diagnosis of patients with atypical Friedreich ataxia Serum IL-6, sAXL, and YKL-40 as systemic correlates of reduced brain structure and function in Alzheimer’s disease: results from the DELCODE study Recommendations for whole genome sequencing in diagnostics for rare diseases Predicting disease progression in behavioral variant frontotemporal dementia 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 PolyQ-expanded ataxin-3 protein levels in peripheral blood mononuclear cells correlate with clinical parameters in SCA3: a pilot study Neurofilaments in spinocerebellar ataxia type 3: blood biomarkers at the preataxic and ataxic stage in humans and mice De novo ITPR1 variants are a recurrent cause of early-onset ataxia, acting via loss of channel function Clinical and genetic characteristics of sporadic adult-onset degenerative ataxia Validation of a Step Detection Algorithm during Straight Walking and Turning in Patients with Parkinson’s Disease and Older Adults Using an Inertial Measurement Unit at the Lower Back Association between vestibulo-ocular reflex suppression, balance, gait, and fall risk in ageing and neurodegenerative disease: protocol of a one-year prospective follow-up study Klinik und Genetik autosomal-rezessiver Ataxien Die Rolle interner Modelle bei der Wahrnehmung von Eigenbewegungen Die Rolle interner Modelle bei der Wahrnehmung von Eigenbewegungen

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Katalog der Deutschen Nationalbibliothek

Matthis Synofzik (1979-)

Identification and characterisation of pathogenic and non-pathogenic FGF14 repeat expansions

A common flanking variant is associated with enhanced stability of the FGF14-SCA27B repeat locus

Plasma extracellular vesicle tau and TDP-43 as diagnostic biomarkers in FTD and ALS

A systematic review of progranulin concentrations in biofluids in over 7,000 people—assessing the pathogenicity of GRN mutations and other influencing factors

RFC1 repeat expansions in downbeat nystagmus syndromes: frequency and phenotypic profile

Different inflammatory signatures based on CSF biomarkers relate to preserved or diminished brain structure and cognition

Fronto-striatal alterations correlate with apathy severity in behavioral variant frontotemporal dementia

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

Standards of Fluid Biomarker Collection and Pre-analytical Processes in Humans and Mice: Recommendations by the Ataxia Global Initiative Working Group on Biomarkers

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

Serum IL-6, sAXL, and YKL-40 as systemic correlates of reduced brain structure and function in Alzheimer’s disease: results from the DELCODE study

Recommendations for whole genome sequencing in diagnostics for rare diseases

Predicting disease progression in behavioral variant frontotemporal dementia

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

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

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

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

Clinical and genetic characteristics of sporadic adult-onset degenerative ataxia

Validation of a Step Detection Algorithm during Straight Walking and Turning in Patients with Parkinson’s Disease and Older Adults Using an Inertial Measurement Unit at the Lower Back

Association between vestibulo-ocular reflex suppression, balance, gait, and fall risk in ageing and neurodegenerative disease: protocol of a one-year prospective follow-up study

Klinik und Genetik autosomal-rezessiver Ataxien

Die Rolle interner Modelle bei der Wahrnehmung von Eigenbewegungen

Die Rolle interner Modelle bei der Wahrnehmung von Eigenbewegungen