Lista de obras - Matthis Synofzik - Dominio Público Uruguay

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

artículo científico publicado en 2013

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

artículo científico publicado en 2017

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

artículo científico publicado en 2016

AP5Z1/SPG48 frequency in autosomal recessive and sporadic spastic paraplegia

artículo científico publicado en 2014

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

artículo científico publicado en 2015

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

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

artículo científico publicado en 2014

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

artículo científico publicado en 2017

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

artículo científico publicado en 2011

Affective coding: the emotional dimension of agency

artículo científico publicado en 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

artículo científico publicado en 2016

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

artículo científico publicado en 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

artículo científico publicado en 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

artículo científico publicado en 2015

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

artículo científico publicado en 2014

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

artículo científico publicado en 2009

Atypical juvenile parkinsonism in a consanguineous SPG15 family

artículo científico publicado en 2011

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

artículo científico publicado en 2016

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

artículo científico publicado en 2013

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

artículo científico publicado en 2017

Beyond the comparator model.

artículo científico publicado en 2012

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

artículo científico publicado en 2007

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

artículo científico publicado en 2016

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

artículo científico publicado en 2015

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

artículo científico publicado en 2017

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

artículo científico publicado en 2016

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

artículo científico publicado en 2011

Characterizing POLG ataxia: clinics, electrophysiology and imaging

artículo científico publicado en 2012

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

artículo científico publicado en 2012

Clinical and genetic characteristics of sporadic adult-onset degenerative ataxia

artículo científico

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

artículo científico publicado en 2017

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

artículo científico publicado en 2014

Complex hyperkinetic movement disorders associated with POLG mutations.

artículo científico publicado en 2010

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.

artículo científico publicado en 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

artículo científico publicado en 2015

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

artículo científico publicado en 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

artículo científico publicado en 2015

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

artículo científico publicado en 2013

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

artículo científico publicado en 2016

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

artículo científico publicado el 21 de marzo de 2010

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

artículo científico publicado en 2018

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

artículo científico publicado en 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.

artículo científico publicado en 2019

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

artículo científico publicado en 2015

Friedreich ataxia: dysarthria profile and clinical data

artículo científico publicado en 2013

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

artículo científico publicado en 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

artículo científico publicado en 2013

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

artículo científico publicado en 2017

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

artículo científico publicado en 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

artículo científico publicado en 2008

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

artículo científico publicado en 2017

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

artículo científico publicado en 2008

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

artículo científico publicado en 2016

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

artículo científico publicado en 2017

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

artículo científico publicado en 2006

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

artículo científico publicado en 2015

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

artículo científico publicado en 2013

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

artículo científico publicado en 2013

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

artículo científico publicado el 15 de octubre de 2010

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

artículo científico publicado en 2017

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

artículo científico publicado en 2009

Measuring the immeasurable? Quality of life and medical decision making

artículo científico publicado en 2005

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

artículo científico publicado en 2009

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

artículo científico publicado en 2014

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

artículo científico publicado en 2016

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

artículo científico publicado en 2012

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

artículo científico publicado en 2015

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

artículo científico publicado en 2013

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

artículo científico publicado en 2015

Nerve ultrasound characterizes AMN polyneuropathy as inhomogeneous and focal hypertrophic

article

Neurochondrin is a neuronal target antigen in autoimmune cerebellar degeneration

artículo científico publicado en 2016

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

artículo científico publicado en 2020

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

artículo científico publicado en 2016

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

artículo científico publicado en 2013

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.

artículo científico publicado en 2017

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

artículo científico publicado en 2013

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

artículo científico publicado en 2016

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

artículo científico publicado en 2017

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

artículo científico publicado en 2014

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

artículo científico publicado en 2015

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

artículo científico publicado en 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.

artículo científico publicado en 2018

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

artículo científico publicado en 2017

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

artículo científico publicado en 2014

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

scientific article published on 13 October 2016

Rare mutations in SQSTM1 modify susceptibility to frontotemporal lobar degeneration

artículo científico publicado en 2014

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

artículo científico publicado en 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

artículo científico publicado en 2017

Retinal nerve fiber layer loss in multiple system atrophy

artículo científico publicado en 2011

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

artículo científico publicado en 2012

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

artículo científico publicado en 2017

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

artículo científico publicado en 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

artículo científico publicado en 2012

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

artículo científico publicado en 2013

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

artículo científico publicado en 2016

Severe orthostatic dysregulation associated with Wolfram syndrome.

artículo científico publicado en 2010

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

artículo científico publicado en 2021

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

artículo científico publicado en 2021

Solving unsolved rare neurological diseases-a Solve-RD viewpoint

artículo científico publicado en 2021

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

artículo científico

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

artículo científico publicado en 2010

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

artículo científico publicado en 2011

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

artículo científico publicado en 2014

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

artículo científico publicado en 2008

Suicide attempt as the presenting symptom of C9orf72 dementia

artículo científico publicado en 2012

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

artículo científico publicado en 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

artículo científico publicado en 2018

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

artículo científico publicado en 2013

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

artículo científico publicado en 2013

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

artículo científico publicado en 2016

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

artículo científico publicado en 2013

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

artículo científico publicado en 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

artículo científico publicado en 2016

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

artículo científico publicado en 2008

The experience of agency: an interplay between prediction and postdiction

artículo científico publicado en 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

artículo científico publicado en 2017

The human G93A SOD1 phenotype closely resembles sporadic amyotrophic lateral sclerosis

artículo científico publicado en 2010

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

artículo científico publicado en 2013

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

artículo científico publicado en 2011

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

artículo científico publicado en 2017

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

artículo científico

Truncating Mutations in UBAP1 Cause Hereditary Spastic Paraplegia

Truncating Mutations in UBAP1 Cause Hereditary Spastic Paraplegia.

artículo científico publicado en 2019

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

artículo científico publicado en 2017

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

artículo científico publicado en 2017

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

artículo científico publicado en 2018

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

artículo científico publicado en 2012

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

artículo científico publicado en 2013

Voice in Friedreich Ataxia

artículo científico publicado en 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

artículo científico publicado en 2014

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

artículo científico publicado en 2006

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

artículo científico publicado en 2006

Lista de obras de Matthis Synofzik

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

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

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

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

AP5Z1/SPG48 frequency in autosomal recessive and sporadic spastic paraplegia

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

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

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

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

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

Affective coding: the emotional dimension of agency

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

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

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

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

Assessing quality of life in patients with lumbar sciatica

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

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

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

Atypical juvenile parkinsonism in a consanguineous SPG15 family

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

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

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

Beyond the comparator model.

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

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

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

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

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

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

Characterizing POLG ataxia: clinics, electrophysiology and imaging

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

Clinical and genetic characteristics of sporadic adult-onset degenerative ataxia

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

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

Complex hyperkinetic movement disorders associated with POLG mutations.

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.

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

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

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

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

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

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

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

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

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

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

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

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

Friedreich ataxia: dysarthria profile and clinical data

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

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

Guidelines and quality measures for the diagnosis of optic ataxia

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

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

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

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

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

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

Individual changes in preclinical spinocerebellar ataxia identified via increased motor complexity

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

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

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

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

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

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

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

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

Measuring the immeasurable? Quality of life and medical decision making

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

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

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

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

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

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