Search filters

List of works by Matthis Synofzik

A neuromodulation experience registry for deep brain stimulation studies in psychiatric research: Rationale and recommendations for implementation

scientific article published on 04 November 2011

A pan-European study of the C9orf72 repeat associated with FTLD: geographic prevalence, genomic instability, and intermediate repeats

scientific article published on 4 January 2013

A recessive ataxia diagnosis algorithm for the next generation sequencing era.

scientific article published on 23 October 2017

A recurrent mutation in KCNA2 as a novel cause of hereditary spastic paraplegia and ataxia

scientific article published on 20 August 2016

AP5Z1/SPG48 frequency in autosomal recessive and sporadic spastic paraplegia

scientific article

Abnormal Paraplegin Expression in Swollen Neurites, τ- and α-Synuclein Pathology in a Case of Hereditary Spastic Paraplegia SPG7 with an Ala510Val Mutation

scientific article

Absence of BiP Co-chaperone DNAJC3 Causes Diabetes Mellitus and Multisystemic Neurodegeneration

Absence of BiP co-chaperone DNAJC3 causes diabetes mellitus and multisystemic neurodegeneration

scientific article

Absence of EEG correlates of self-referential processing depth in ALS.

scientific article published on 29 June 2017

Acetazolamide-responsive exercise-induced episodic ataxia associated with a novel homozygous DARS2 mutation

scientific article published on 11 July 2011

Affective coding: the emotional dimension of agency

scientific article published on 12 August 2014

Age at symptom onset and death and disease duration in genetic frontotemporal dementia: an international retrospective cohort study

scientific article published on 03 December 2019

Ambulatory Activity Components Deteriorate Differently across Neurodegenerative Diseases: A Cross-Sectional Sensor-Based Study

scientific article published on 21 May 2016

Antisense Oligonucleotide Mediated Splice Correction of a Deep Intronic Mutation in OPA1.

scientific article published on 22 November 2016

Assessing mobility and balance in Autosomal Recessive Spastic Ataxia of Charlevoix-Saguenay population: Validity and reliability of four outcome measures

article

Assessing quality of life in patients with lumbar sciatica

scientific article published in February 2005

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

scientific article

Ataxia meets chorioretinal dystrophy and hypogonadism: Boucher-Neuhäuser syndrome due to PNPLA6 mutations

scientific article published on 30 April 2014

Ataxia with ophthalmoplegia or sensory neuropathy is frequently caused by POLG mutations

scientific article published in September 2009

Atypical juvenile parkinsonism in a consanguineous SPG15 family

scientific article published on 06 January 2011

Atypical parkinsonism in C9orf72 expansions: a case report and systematic review of 45 cases from the literature

scientific article published on 25 January 2016

Autosomal recessive spastic ataxia of Charlevoix Saguenay (ARSACS): expanding the genetic, clinical and imaging spectrum

scientific article published on 15 March 2013

Beyond ALS and FTD: the phenotypic spectrum of TBK1 mutations includes PSP-like and cerebellar phenotypes

scientific article

Beyond the comparator model ⬇️

scientific article published on February 1, 2012

Beyond the comparator model: a multifactorial two-step account of agency

scientific article published on 4 May 2007

Brain activation in frontotemporal and Alzheimer's dementia: a functional near-infrared spectroscopy study

scientific article published on 08 December 2016

Brain-computer interfacing in amyotrophic lateral sclerosis: Implications of a resting-state EEG analysis

scientific article published on August 2015

Case series: Slowing alpha rhythm in late-stage ALS patients

scientific article published on 26 November 2017

Cerebrospinal Fluid Progranulin, but Not Serum Progranulin, Is Reduced in GRN-Negative Frontotemporal Dementia

scientific article published on 20 October 2016

Cerebrospinal fluid fatty acids in glucocerebrosidase-associated Parkinson's disease

scientific article published on 21 October 2011

Characterizing POLG ataxia: clinics, electrophysiology and imaging

scientific article published in December 2012

Charcot-Marie-Tooth hereditary neuropathy due to a mitochondrial ATP6 mutation.

scientific article

Clinical and genetic characteristics of sporadic adult-onset degenerative ataxia

scientific article published on 09 August 2017

Clinical assessment of dysphagia in neurodegeneration (CADN): development, validity and reliability of a bedside tool for dysphagia assessment

scientific article

Comparing speech characteristics in spinocerebellar ataxias type 3 and type 6 with Friedreich ataxia

scientific article published on 30 September 2014

Complex hyperkinetic movement disorders associated with POLG mutations.

scientific article

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

D90A-SOD1 ALS mimicking monoclonal gammopathy-associated ALS.

scientific article published on 13 March 2012

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

De novo loss- or gain-of-function mutations in KCNA2 cause epileptic encephalopathy

scientific article

Decreased retinal sensitivity and loss of retinal nerve fibers in multiple system atrophy

scientific article published on 10 August 2012

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

Disentangling brain functional network remodeling in corticobasal syndrome - A multimodal MRI study

scientific article published on 02 December 2019

Doing good or bad: How interactions between action and emotion expectations shape the sense of agency

scientific article

Dominant spinal muscular atrophy due to BICD2: a novel mutation refines the phenotype.

scientific article published on 11 December 2013

Effects of Cellular Pathway Disturbances on Misfolded Superoxide Dismutase-1 in Fibroblasts Derived from ALS Patients

scientific article

Electrodes in the brain—Ethical criteria for research and treatment with deep brain stimulation for neuropsychiatric disorders ⬇️

scientific article published on March 21, 2010

Establishment of STUB1/CHIP mutant induced pluripotent stem cells (iPSCs) from a patient with Gordon Holmes syndrome/SCAR16.

scientific article

Evidence for altered transport of insulin across the blood-brain barrier in insulin-resistant humans

scientific article published on 27 December 2013

Features of speech and swallowing dysfunction in pre-ataxic spinocerebellar ataxia type 2

scientific article published on 11 June 2020

Feedback inhibition of cAMP effector signaling by a chaperone-assisted ubiquitin system.

scientific article published on 12 June 2019

First de novo KCND3 mutation causes severe Kv4.3 channel dysfunction leading to early onset cerebellar ataxia, intellectual disability, oral apraxia and epilepsy

scientific article published on 21 July 2015

Friedreich ataxia: dysarthria profile and clinical data

scientific article

Generation of optic atrophy 1 patient-derived induced pluripotent stem cells (iPS-OPA1-BEHR) for disease modeling of complex optic atrophy syndromes (Behr syndrome).

scientific article published on 17 September 2016

Genome-wide analyses as part of the international FTLD-TDP whole-genome sequencing consortium reveals novel disease risk factors and increases support for immune dysfunction in FTLD

scientific article published on 09 February 2019

Guidelines and quality measures for the diagnosis of optic ataxia

scientific article published on 2 July 2013

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

scientific article published on August 2017

High prevalence of NMDA receptor IgA/IgM antibodies in different dementia types

scientific article published on 18 October 2014

How Happy Is Too Happy? Euphoria, Neuroethics, and Deep Brain Stimulation of the Nucleus Accumbens

How physicians allocate scarce resources at the bedside: a systematic review of qualitative studies

scientific article

Hypomorphic mutations in POLR3A are a frequent cause of sporadic and recessive spastic ataxia

scientific article published on 27 April 2017

I move, therefore I am: a new theoretical framework to investigate agency and ownership.

scientific article

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

scientific article published on 17 June 2016

Individual changes in preclinical spinocerebellar ataxia identified via increased motor complexity

scientific article published on 26 October 2016

Individualized exergame training improves postural control in advanced degenerative spinocerebellar ataxia: A rater-blinded, intra-individually controlled trial

scientific article published on 28 March 2017

Internalizing agency of self-action: perception of one's own hand movements depends on an adaptable prediction about the sensory action outcome

scientific article

Lack of enzyme activity in GBA2 mutants associated with hereditary spastic paraplegia/cerebellar ataxia (SPG46).

scientific article published on 25 July 2015

Late adult-onset pure spinal muscular atrophy due to a compound HEXB macro-deletion

scientific article published on 25 July 2013

Leukodystrophies in idiopathic adult-onset ataxia: frequency and phenotype in 105 patients

scientific article published on 7 August 2013

Long‐term effects of coordinative training in degenerative cerebellar disease ⬇️

scientific article published on October 15, 2010

Loss-of-function mutations in the ATP13A2/PARK9 gene cause complicated hereditary spastic paraplegia (SPG78).

scientific article published in February 2017

Me or not me--an optimal integration of agency cues?

scientific article published on 14 August 2009

Measuring the immeasurable? Quality of life and medical decision making

scientific article published in February 2005

Misattributions of agency in schizophrenia are based on imprecise predictions about the sensory consequences of one's actions

scientific article

Motor training in degenerative spinocerebellar disease: ataxia-specific improvements by intensive physiotherapy and exergames

scientific article

Multisystemic SYNE1 ataxia: confirming the high frequency and extending the mutational and phenotypic spectrum

scientific article published on 19 May 2016

Mutant superoxide dismutase-1 indistinguishable from wild-type causes ALS.

scientific article published on 16 May 2012

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

scientific article

Mutations in POLR3A and POLR3B are a major cause of hypomyelinating leukodystrophies with or without dental abnormalities and/or hypogonadotropic hypogonadism

scientific article published on 25 January 2013

NPC1 is enriched in unexplained early onset ataxia: a targeted high-throughput screening

scientific article published on 4 September 2015

Nerve ultrasound characterizes AMN polyneuropathy as inhomogeneous and focal hypertrophic

article

Neurochondrin is a neuronal target antigen in autoimmune cerebellar degeneration

scientific article

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

scientific article published on 08 June 2020

New transgenic ALS/FTD models on the rat-walk: An Editorial Highlight for 'Increased Ubqln2 expression causes neuron death in transgenic rats'.

scientific article

Niemann-Pick type C is frequent in adult ataxia with cognitive decline and vertical gaze palsy

scientific article

No supportive evidence for TIA1 gene mutations in a European cohort of ALS-FTD spectrum patients

article

Novel likely pathogenic variants in TMEM126A identified in non-syndromic autosomal recessive optic atrophy: two case reports

Overcoming the divide between ataxias and spastic paraplegias: Shared phenotypes, genes, and pathways.

scientific article published on 14 February 2017

PNPLA6 mutations cause Boucher-Neuhauser and Gordon Holmes syndromes as part of a broad neurodegenerative spectrum

scientific article published on 19 December 2013

POLG-Associated Ataxia Presenting as a Fragile X Tremor/Ataxia Phenocopy Syndrome

scientific article published on 12 April 2016

Periodic EEG patterns in sporadic Creutzfeld-Jakob-Disease can be benzodiazepine-responsive and be difficult to distinguish from non-convulsive status epilepticus

scientific article published on 4 November 2017

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

scientific article

Pilot whole-exome sequencing of a German early-onset Alzheimer's disease cohort reveals a substantial frequency of PSEN2 variants

scientific article published on 30 September 2015

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

scientific article published on 26 October 2020

Potential genetic modifiers of disease risk and age at onset in patients with frontotemporal lobar degeneration and GRN mutations: a genome-wide association study.

scientific article

Progressive deafness-dystonia due to SERAC1 mutations: A study of 67 cases

scientific article published on 2 December 2017

Pure and syndromic optic atrophy explained by deep intronic OPA1 mutations and an intralocus modifier

scientific article

Rare Variants in Neurodegeneration Associated Genes Revealed by Targeted Panel Sequencing in a German ALS Cohort

scientific article published on 13 October 2016

Rare differential diagnosis of primary adrenal insufficiency: case 6/2011 ⬇️

scientific article published on 07 June 2011

Rare mutations in SQSTM1 modify susceptibility to frontotemporal lobar degeneration

scientific article

Real-life gait assessment in degenerative cerebellar ataxia: Towards ecologically valid biomarkers

scientific article published on 01 July 2020

Recommendations for patient screening in ultra-rare inherited metabolic diseases: what have we learned from Niemann-Pick disease type C?

Reply to Carruthers

Reply: POLR3A variants in hereditary spastic paraplegia and ataxia

scientific article published on 11 December 2017

Retinal nerve fiber layer loss in multiple system atrophy

scientific article published on 21 March 2011

S100B is increased in Parkinson's disease and ablation protects against MPTP-induced toxicity through the RAGE and TNF-α pathway

scientific article

SERAC1 deficiency causes complicated HSP: evidence from a novel splice mutation in a large family

scientific article

SIL1 mutations and clinical spectrum in patients with Marinesco-Sjogren syndrome

scientific article published on 30 October 2013

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

scientific article published on 13 February 2017

Screening in ALS and FTD patients reveals 3 novel UBQLN2 mutations outside the PXX domain and a pure FTD phenotype

scientific article published on 11 August 2012

Sensorimotor recalibration depends on attribution of sensory prediction errors to internal causes

scientific article

Serum Levels of Progranulin Do Not Reflect Cerebrospinal Fluid Levels in Neurodegenerative Disease

scientific article

Severe orthostatic dysregulation associated with Wolfram syndrome

scientific article published on 19 May 2010

Solve-RD: systematic pan-European data sharing and collaborative analysis to solve rare diseases

scientific article published on 01 June 2021

Solving patients with rare diseases through programmatic reanalysis of genome-phenome data

scientific article published on 01 June 2021

Solving unsolved rare neurological diseases-a Solve-RD viewpoint

scientific article published on 10 May 2021

Speech and swallowing abnormalities in adults with POLG associated ataxia (POLG-A).

scientific article published on 17 June 2017

Spinocerebellar ataxia type 11 (SCA11) is an uncommon cause of dominant ataxia among French and German kindreds.

scientific article

Spinocerebellar ataxia type 15: diagnostic assessment, frequency, and phenotypic features

scientific article published in March 2011

Spinocerebellar ataxia type 36 exists in diverse populations and can be caused by a short hexanucleotide GGCCTG repeat expansion

scientific article published on 4 December 2014

Stimulating personality: ethical criteria for deep brain stimulation in psychiatric patients and for enhancement purposes

scientific article published on December 2008

Suicide attempt as the presenting symptom of C9orf72 dementia

scientific article

Sustained dopaminergic response of parkinsonism and depression in POLG-associated parkinsonism

scientific article published in January 2010

TBK1 Mutation Spectrum in an Extended European Patient Cohort with Frontotemporal Dementia and Amyotrophic Lateral Sclerosis

scientific article published on 23 December 2016

TSFM mutations cause a complex hyperkinetic movement disorder with strong relief by cannabinoids

scientific article published on 29 September 2018

Targeted high-throughput sequencing identifies a TARDBP mutation as a cause of early-onset FTD without motor neuron disease

scientific article published on 29 October 2013

Targeted next generation sequencing as a diagnostic tool in epileptic disorders ⬇️

scientific article published on May 21, 2012

Teaching NeuroImages: MRI guides genetics: leukoencephalopathy with brainstem and spinal cord involvement (LBSL).

scientific article published in April 2013

Teaching NeuroImages: When alopecia and disk herniations meet vascular leukoencephalopathy: CARASIL.

scientific article published in April 2016

Teaching neuroimages: hypomyelinating leukodystrophy with hypodontia due to POLR3B: look into a leukodystrophy's mouth

scientific article

The CST3 BB Genotype and Low Cystatin C Cerebrospinal Fluid Levels are Associated with Dementia in Lewy Body Disease

scientific article published on 01 January 2010

The Ethical Differences Between Psychiatric and Neurologic DBS: Smaller Than We Think?

The FARSEEING real-world fall repository: a large-scale collaborative database to collect and share sensor signals from real-world falls

scientific article

The cerebellum updates predictions about the visual consequences of one's behavior

scientific article

The experience of agency: an interplay between prediction and postdiction

scientific article (publication date: 2013)

The experience of free will and the experience of agency: an error-prone, reconstructive process

The hidden Niemann-Pick type C patient: clinical niches for a rare inherited metabolic disease

scientific article

The human G93A SOD1 phenotype closely resembles sporadic amyotrophic lateral sclerosis

scientific article

The tumour suppressor gene WWOX is mutated in autosomal recessive cerebellar ataxia with epilepsy and mental retardation

scientific article

The valence of action outcomes modulates the perception of one's actions

scientific article published on 14 July 2011

The wide genetic landscape of clinical frontotemporal dementia: systematic combined sequencing of 121 consecutive subjects

scientific article

Towards a common framework of grounded action cognition: Relating motor control, perception and cognition

scientific article published on 22 September 2015

Truncating Mutations in UBAP1 Cause Hereditary Spastic Paraplegia

Truncating Mutations in UBAP1 Cause Hereditary Spastic Paraplegia.

scientific article published in June 2019

Uniparental disomy determined by whole-exome sequencing in a spectrum of rare motoneuron diseases and ataxias

scientific article

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

scientific article published on 4 September 2017

Validity and reliability of outcome measures assessing dexterity, coordination, and upper limb strength in Autosomal Recessive Spastic Ataxia of Charlevoix-Saguenay

scientific article published on 17 February 2018

Video game-based coordinative training improves ataxia in children with degenerative ataxia

scientific article published on 31 October 2012

Videogame-based coordinative training can improve advanced, multisystemic early-onset ataxia

scientific article published on 30 August 2013

Voice in Friedreich Ataxia

scientific article published on 5 August 2016

Weighting models and weighting factors

X-linked Charcot-Marie-Tooth disease, Arts syndrome, and prelingual non-syndromic deafness form a disease continuum: evidence from a family with a novel PRPS1 mutation

scientific article

[Cognition on demand?--The wish for cognition-enhancing drugs in medicine]

scientific article published on 01 March 2006

[Effective, indicated--and yet without benefit? The goals of dementia drug treatment and the well-being of the patient].

scientific article published in August 2006

Paulina is supported by:

About Paulina

Help