Matthis Synofzik
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Researcher ORCID ID = 0000-0002-2280-7273
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(Suggest an Edit or Addition)Matthis Synofzik's Published Works
Number of citations in a given year to any of this author's works
Total number of citations to an author for the works they published in a given year. This highlights publication of the most important work(s) by the author
Published Works
- Beyond the comparator model: A multifactorial two-step account of agency (2008) (730)
- Targeted next generation sequencing as a diagnostic tool in epileptic disorders (2012) (310)
- A Pan-European Study of the C9orf72 Repeat Associated with FTLD: Geographic Prevalence, Genomic Instability, and Intermediate Repeats (2012) (254)
- Intensive coordinative training improves motor performance in degenerative cerebellar disease (2009) (253)
- Misattributions of agency in schizophrenia are based on imprecise predictions about the sensory consequences of one's actions. (2010) (231)
- I move, therefore I am: A new theoretical framework to investigate agency and ownership (2008) (225)
- The experience of agency: an interplay between prediction and postdiction (2013) (217)
- De novo loss- or gain-of-function mutations in KCNA2 cause epileptic encephalopathy (2015) (211)
- Ataxia with oculomotor apraxia type 2: clinical, biological and genotype/phenotype correlation study of a cohort of 90 patients. (2009) (207)
- The Cerebellum Updates Predictions about the Visual Consequences of One's Behavior (2008) (190)
- PNPLA6 mutations cause Boucher-Neuhauser and Gordon Holmes syndromes as part of a broad neurodegenerative spectrum. (2014) (174)
- Stimulating personality: Ethical criteria for deep brain stimulation in psychiatric patients and for enhancement purposes (2008) (173)
- S100B is increased in Parkinson’s disease and ablation protects against MPTP-induced toxicity through the RAGE and TNF-α pathway (2012) (151)
- Video game–based coordinative training improves ataxia in children with degenerative ataxia (2012) (150)
- Consensus Paper: Management of Degenerative Cerebellar Disorders (2014) (148)
- Long‐term effects of coordinative training in degenerative cerebellar disease (2010) (147)
- Age at symptom onset and death and disease duration in genetic frontotemporal dementia: an international retrospective cohort study (2019) (128)
- Overcoming the divide between ataxias and spastic paraplegias: Shared phenotypes, genes, and pathways (2017) (128)
- Autosomal recessive spastic ataxia of Charlevoix Saguenay (ARSACS): expanding the genetic, clinical and imaging spectrum (2013) (127)
- How physicians allocate scarce resources at the bedside: a systematic review of qualitative studies. (2008) (118)
- Loss-of-function mutations in the ATP13A2/PARK9 gene cause complicated hereditary spastic paraplegia (SPG78) (2017) (112)
- Internalizing agency of self-action: perception of one's own hand movements depends on an adaptable prediction about the sensory action outcome. (2006) (108)
- High prevalence of NMDA receptor IgA/IgM antibodies in different dementia types (2014) (104)
- Evidence for altered transport of insulin across the blood–brain barrier in insulin-resistant humans (2014) (104)
- The tumour suppressor gene WWOX is mutated in autosomal recessive cerebellar ataxia with epilepsy and mental retardation. (2014) (97)
- Serum neurofilament light chain in genetic frontotemporal dementia: a longitudinal, multicentre cohort study (2019) (96)
- Rare mutations in SQSTM1 modify susceptibility to frontotemporal lobar degeneration (2014) (93)
- Me or not me – An optimal integration of agency cues? (2009) (90)
- Screening in ALS and FTD patients reveals 3 novel UBQLN2 mutations outside the PXX domain and a pure FTD phenotype (2012) (90)
- Mutations in POLR3A and POLR3B are a major cause of hypomyelinating leukodystrophies with or without dental abnormalities and/or hypogonadotropic hypogonadism (2013) (89)
- Absence of BiP co-chaperone DNAJC3 causes diabetes mellitus and multisystemic neurodegeneration. (2014) (89)
- The Cerebellum Optimizes Perceptual Predictions about External Sensory Events (2013) (87)
- TBK1 Mutation Spectrum in an Extended European Patient Cohort with Frontotemporal Dementia and Amyotrophic Lateral Sclerosis (2017) (85)
- Potential genetic modifiers of disease risk and age at onset in patients with frontotemporal lobar degeneration and GRN mutations: a genome-wide association study (2018) (83)
- SYNE1 ataxia is a common recessive ataxia with major non-cerebellar features: a large multi-centre study. (2016) (80)
- Clinical spectrum and genotype‐phenotype associations of KCNA2‐related encephalopathies (2017) (78)
- Towards a common framework of grounded action cognition: Relating motor control, perception and cognition (2016) (78)
- Plasma glial fibrillary acidic protein is raised in progranulin-associated frontotemporal dementia (2020) (75)
- Frequency and phenotype of SPG11 and SPG15 in complicated hereditary spastic paraplegia (2009) (74)
- Hypomorphic mutations in POLR3A are a frequent cause of sporadic and recessive spastic ataxia (2017) (72)
- Systematic reviews of empirical bioethics (2008) (72)
- 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 (2017) (67)
- Motor Training in Degenerative Spinocerebellar Disease: Ataxia-Specific Improvements by Intensive Physiotherapy and Exergames (2014) (66)
- SIL1 mutations and clinical spectrum in patients with Marinesco-Sjogren syndrome. (2013) (64)
- 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 (2019) (63)
- Pure and syndromic optic atrophy explained by deep intronic OPA1 mutations and an intralocus modifier. (2014) (63)
- Biallelic mutations in SORD cause a common and potentially treatable hereditary neuropathy with implications for diabetes (2020) (62)
- The wide genetic landscape of clinical frontotemporal dementia: systematic combined sequencing of 121 consecutive subjects (2017) (61)
- Neurofilament light chain in FTD is elevated not only in cerebrospinal fluid, but also in serum (2016) (61)
- Mutation screen reveals novel variants and expands the phenotypes associated with DYNC1H1 (2015) (57)
- Autosomal Recessive Cerebellar Ataxias: Paving the Way toward Targeted Molecular Therapies (2019) (57)
- Phenotype and frequency of STUB1 mutations: next-generation screenings in Caucasian ataxia and spastic paraplegia cohorts (2014) (57)
- The FARSEEING real-world fall repository: a large-scale collaborative database to collect and share sensor signals from real-world falls (2016) (54)
- Mutant superoxide dismutase-1 indistinguishable from wild-type causes ALS. (2012) (54)
- Autoantibodies against amyloid and glial-derived antigens are increased in serum and cerebrospinal fluid of Lewy body-associated dementias. (2011) (54)
- ATAXIA WITH OPHTHALMOPLEGIA OR SENSORY NEUROPATHY IS FREQUENTLY CAUSED BY POLG MUTATIONS (2009) (53)
- Characterizing POLG Ataxia: Clinics, Electrophysiology and Imaging (2012) (53)
- STUB1/CHIP mutations cause Gordon Holmes syndrome as part of a widespread multisystemic neurodegeneration: evidence from four novel mutations (2017) (51)
- Natural History, Phenotypic Spectrum, and Discriminative Features of Multisystemic RFC1 Disease (2021) (51)
- Spinocerebellar ataxia type 15: diagnostic assessment, frequency, and phenotypic features (2011) (50)
- The genetic nomenclature of recessive cerebellar ataxias (2018) (50)
- C9orf72 is differentially expressed in the central nervous system and myeloid cells and consistently reduced in C9orf72, MAPT and GRN mutation carriers (2016) (50)
- Affective coding: the emotional dimension of agency (2014) (50)
- Serum neurofilament light is increased in multiple system atrophy of cerebellar type and in repeat-expansion spinocerebellar ataxias: a pilot study (2018) (49)
- Spinocerebellar ataxia type 11 (SCA11) is an uncommon cause of dominant ataxia among French and German kindreds (2010) (47)
- Acetazolamide-responsive exercise-induced episodic ataxia associated with a novel homozygous DARS2 mutation (2011) (47)
- Videogame-based coordinative training can improve advanced, multisystemic early-onset ataxia (2013) (45)
- Neurofilaments in spinocerebellar ataxia type 3: blood biomarkers at the preataxic and ataxic stage in humans and mice (2020) (45)
- Spinocerebellar ataxia type 36 exists in diverse populations and can be caused by a short hexanucleotide GGCCTG repeat expansion (2014) (44)
- Ethically Justified, Clinically Applicable Criteria for Physician Decision-Making in Psychopharmacological Enhancement (2009) (44)
- How Happy Is Too Happy? Euphoria, Neuroethics, and Deep Brain Stimulation of the Nucleus Accumbens (2012) (44)
- Developmental Consequences of Defective ATG7-Mediated Autophagy in Humans. (2021) (43)
- Targeted high-throughput sequencing identifies a TARDBP mutation as a cause of early-onset FTD without motor neuron disease (2014) (43)
- First de novo KCND3 mutation causes severe Kv4.3 channel dysfunction leading to early onset cerebellar ataxia, intellectual disability, oral apraxia and epilepsy (2015) (42)
- Electrodes in the brain—Ethical criteria for research and treatment with deep brain stimulation for neuropsychiatric disorders (2010) (42)
- Amplicon‐based high‐throughput pooled sequencing identifies mutations in CYP7B1 and SPG7 in sporadic spastic paraplegia patients (2011) (41)
- Dominant spinal muscular atrophy due to BICD2: a novel mutation refines the phenotype (2013) (41)
- Friedreich Ataxia: Dysarthria Profile and Clinical Data (2013) (41)
- Fluid biomarkers in frontotemporal dementia: past, present and future (2020) (40)
- 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 (2014) (39)
- Atypical parkinsonism in C9orf72 expansions: a case report and systematic review of 45 cases from the literature (2016) (39)
- Loss-of-function mutations in the ATP 13 A 2 / PARK 9 gene cause complicated hereditary spastic paraplegia ( SPG 78 ) (2017) (38)
- A recurrent mutation in KCNA2 as a novel cause of hereditary spastic paraplegia and ataxia (2016) (38)
- Individualized exergame training improves postural control in advanced degenerative spinocerebellar ataxia: A rater-blinded, intra-individually controlled trial. (2017) (38)
- Neuronal pentraxin 2: a synapse-derived CSF biomarker in genetic frontotemporal dementia (2020) (38)
- Rare Variants in Neurodegeneration Associated Genes Revealed by Targeted Panel Sequencing in a German ALS Cohort (2016) (36)
- Multisystemic SYNE1 ataxia: confirming the high frequency and extending the mutational and phenotypic spectrum. (2016) (36)
- Lack of enzyme activity in GBA2 mutants associated with hereditary spastic paraplegia/cerebellar ataxia (SPG46). (2015) (36)
- Pilot whole-exome sequencing of a German early-onset Alzheimer's disease cohort reveals a substantial frequency of PSEN2 variants (2016) (36)
- The human G93A SOD1 phenotype closely resembles sporadic amyotrophic lateral sclerosis (2010) (35)
- Loss of paraplegin drives spasticity rather than ataxia in a cohort of 241 patients with SPG7 (2019) (35)
- Progressive deafness–dystonia due to SERAC1 mutations: A study of 67 cases (2017) (35)
- Brain activation in frontotemporal and Alzheimer’s dementia: a functional near-infrared spectroscopy study (2016) (35)
- POLG, but not PEO1, is a frequent cause of cerebellar ataxia in Central Europe (2010) (34)
- Boucher–Neuhäuser syndrome: cerebellar degeneration, chorioretinal dystrophy and hypogonadotropic hypogonadism: two novel cases and a review of 40 cases from the literature (2015) (34)
- The CST3 BB genotype and low cystatin C cerebrospinal fluid levels are associated with dementia in Lewy body disease. (2010) (34)
- Clinico‐Genetic, Imaging and Molecular Delineation of COQ8A ‐Ataxia: A Multicenter Study of 59 Patients (2020) (33)
- Counterregulation of cAMP-directed kinase activities controls ciliogenesis (2018) (33)
- Solve-RD: systematic pan-European data sharing and collaborative analysis to solve rare diseases (2021) (33)
- Individual changes in preclinical spinocerebellar ataxia identified via increased motor complexity (2016) (32)
- Real-life gait assessment in degenerative cerebellar ataxia (2020) (32)
- Voice in Friedreich Ataxia. (2017) (32)
- Total tau is increased, but phosphorylated tau not decreased, in cerebrospinal fluid in amyotrophic lateral sclerosis (2015) (32)
- Sustained dopaminergic response of parkinsonism and depression in POLG‐associated parkinsonism (2010) (32)
- Clinical and genetic characteristics of sporadic adult-onset degenerative ataxia (2017) (32)
- Doing good or bad: How interactions between action and emotion expectations shape the sense of agency (2015) (31)
- Sensorimotor Recalibration Depends on Attribution of Sensory Prediction Errors to Internal Causes (2013) (31)
- Structural characteristics of the central nervous system in Friedreich ataxia: an in vivo spinal cord and brain MRI study (2018) (30)
- Brain functional network integrity sustains cognitive function despite atrophy in presymptomatic genetic frontotemporal dementia (2019) (30)
- Progression of Behavioral Disturbances and Neuropsychiatric Symptoms in Patients With Genetic Frontotemporal Dementia (2021) (30)
- Truncating Mutations in UBAP1 Cause Hereditary Spastic Paraplegia. (2019) (30)
- Beyond ALS and FTD: the phenotypic spectrum of TBK1 mutations includes PSP-like and cerebellar phenotypes (2018) (29)
- Niemann-Pick type C is frequent in adult ataxia with cognitive decline and vertical gaze palsy (2013) (29)
- PLA2G6 mutations associated with a continuous clinical spectrum from neuroaxonal dystrophy to hereditary spastic paraplegia (2017) (29)
- Disturbances of the Sense of Agency in Schizophrenia (2010) (29)
- Comparing speech characteristics in spinocerebellar ataxias type 3 and type 6 with Friedreich ataxia (2014) (28)
- Prion mutation D178N with highly variable disease onset and phenotype (2009) (28)
- Correlations between serum and CSF pNfH levels in ALS, FTD and controls: a comparison of three analytical approaches (2019) (28)
- Antisense Oligonucleotide Mediated Splice Correction of a Deep Intronic Mutation in OPA1 (2016) (28)
- Delineating MT-ATP6-associated disease (2020) (28)
- Neurochondrin is a neuronal target antigen in autoimmune cerebellar degeneration (2016) (28)
- Solving patients with rare diseases through programmatic reanalysis of genome-phenome data (2021) (28)
- Solving patients with rare diseases through programmatic reanalysis of genome-phenome data (2021) (28)
- A recessive ataxia diagnosis algorithm for the next generation sequencing era (2017) (27)
- The inner fluctuations of the brain in presymptomatic Frontotemporal Dementia: The chronnectome fingerprint (2019) (27)
- Beyond the comparator model (2012) (27)
- Differential early subcortical involvement in genetic FTD within the GENFI cohort (2021) (26)
- De novo ITPR1 variants are a recurrent cause of early-onset ataxia, acting via loss of channel function (2018) (26)
- Serum Levels of Progranulin Do Not Reflect Cerebrospinal Fluid Levels in Neurodegenerative Disease. (2016) (26)
- Plasma Neurofilament Light for Prediction of Disease Progression in Familial Frontotemporal Lobar Degeneration (2021) (26)
- Effects of Cellular Pathway Disturbances on Misfolded Superoxide Dismutase-1 in Fibroblasts Derived from ALS Patients (2016) (26)
- Feedback inhibition of cAMP effector signaling by a chaperone-assisted ubiquitin system (2019) (25)
- Electrodes in the brain—Ethical criteria for research and treatment with deep brain stimulation for neuropsychiatric disorders (2010) (25)
- The hidden Niemann-Pick type C patient: clinical niches for a rare inherited metabolic disease (2017) (25)
- Hemodialysis in MNGIE transiently reduces serum and urine levels of thymidine and deoxyuridine, but not CSF levels and neurological function (2017) (24)
- White matter hyperintensities in progranulin-associated frontotemporal dementia: A longitudinal GENFI study (2019) (24)
- Social cognition impairment in genetic frontotemporal dementia within the GENFI cohort (2020) (23)
- Transcranial Sonography Reveals Cerebellar, Nigral, and Forebrain Abnormalities in Friedreich’s Ataxia (2011) (23)
- Cerebrospinal Fluid Progranulin, but Not Serum Progranulin, Is Reduced in GRN-Negative Frontotemporal Dementia (2016) (23)
- Atypical juvenile parkinsonism in a consanguineous SPG15 family (2011) (23)
- Apathy in presymptomatic genetic frontotemporal dementia predicts cognitive decline and is driven by structural brain changes (2020) (22)
- A clinical diagnostic algorithm for early onset cerebellar ataxia. (2019) (22)
- A neuromodulation experience registry for deep brain stimulation studies in psychiatric research: Rationale and recommendations for implementation (2012) (22)
- ATPase Domain AFG3L2 Mutations Alter OPA1 Processing and Cause Optic Neuropathy (2020) (22)
- NPC1 is enriched in unexplained early onset ataxia: a targeted high-throughput screening (2015) (22)
- Weighting models and weighting factors (2012) (21)
- SERAC1 deficiency causes complicated HSP: evidence from a novel splice mutation in a large family (2017) (21)
- Cerebrospinal fluid fatty acids in glucocerebrosidase‐associated Parkinson's disease (2012) (21)
- Guidelines and quality measures for the diagnosis of optic ataxia (2013) (21)
- Education modulates brain maintenance in presymptomatic frontotemporal dementia (2019) (21)
- Coordination and timing deficits in speech and swallowing in autosomal recessive spastic ataxia of Charlevoix–Saguenay (ARSACS) (2018) (21)
- Speech and swallowing abnormalities in adults with POLG associated ataxia (POLG-A). (2017) (21)
- Retinal nerve fiber layer loss in multiple system atrophy (2011) (21)
- Suicide attempt as the presenting symptom of C9orf72 dementia. (2012) (21)
- Uniparental disomy determined by whole‐exome sequencing in a spectrum of rare motoneuron diseases and ataxias (2017) (21)
- Validation and Psychometric Properties of the German Version of the SWAL-QOL (2018) (21)
- Clinical assessment of dysphagia in neurodegeneration (CADN): development, validity and reliability of a bedside tool for dysphagia assessment (2017) (20)
- Early symptoms in symptomatic and preclinical genetic frontotemporal lobar degeneration (2020) (20)
- The valence of action outcomes modulates the perception of one’s actions (2012) (20)
- Serum neurofilament light chain is increased in hereditary spastic paraplegias (2018) (20)
- Effects of Exergaming on Attentional Deficits and Dual-Tasking in Parkinson's Disease (2019) (20)
- The motor band sign in ALS: presentations and frequencies in a consecutive series of ALS patients (2019) (19)
- The movement disorder spectrum of SCA21 (ATX-TMEM240): 3 novel families and systematic review of the literature. (2019) (19)
- Experience in a short-term trial with 4-Aminopyridine in cerebellar ataxia (2013) (19)
- Regional Brain and Spinal Cord Volume Loss in Spinocerebellar Ataxia Type 3 (2021) (19)
- Abnormal Paraplegin Expression in Swollen Neurites, τ- and α-Synuclein Pathology in a Case of Hereditary Spastic Paraplegia SPG7 with an Ala510Val Mutation (2015) (18)
- Charcot–Marie–Tooth hereditary neuropathy due to a mitochondrial ATP6 mutation (2012) (18)
- Ataxia meets chorioretinal dystrophy and hypogonadism: Boucher-Neuhäuser syndrome due to PNPLA6 mutations (2014) (18)
- Speech treatment improves dysarthria in multisystemic ataxia: a rater-blinded, controlled pilot-study in ARSACS (2019) (18)
- TBK 1 Mutation Spectrum in an Extended European Patient Cohort with Frontotemporal Dementia and Amyotrophic Lateral Sclerosis (2019) (18)
- Recommendations for whole genome sequencing in diagnostics for rare diseases (2022) (18)
- 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 (2015) (18)
- A data-driven disease progression model of fluid biomarkers in genetic frontotemporal dementia (2021) (17)
- A modified Camel and Cactus Test detects presymptomatic semantic impairment in genetic frontotemporal dementia within the GENFI cohort (2020) (17)
- Preparing n-of-1 Antisense Oligonucleotide Treatments for Rare Neurological Diseases in Europe: Genetic, Regulatory, and Ethical Perspectives (2021) (17)
- Clinical value of cerebrospinal fluid neurofilament light chain in semantic dementia (2019) (17)
- Decreased retinal sensitivity and loss of retinal nerve fibers in multiple system atrophy (2012) (17)
- A guide to writing systematic reviews of rare disease treatments to generate FAIR-compliant datasets: building a Treatabolome (2020) (17)
- PNPLA6-Related Disorders (2015) (16)
- The molecular pathogenesis of superoxide dismutase 1-linked ALS is promoted by low oxygen tension (2018) (16)
- 4-Aminopyridine is a promising treatment option for patients with gain-of-function KCNA2-encephalopathy (2021) (16)
- Intraindividual Neurofilament Dynamics in Serum Mark the Conversion to Sporadic Parkinson's Disease (2020) (16)
- Pattern of Cerebellar Atrophy in Friedreich’s Ataxia—Using the SUIT Template (2019) (16)
- Validity and Reliability of Outcome Measures Assessing Dexterity, Coordination, and Upper Limb Strength in Autosomal Recessive Spastic Ataxia of Charlevoix-Saguenay. (2018) (16)
- Faster Cortical Thinning and Surface Area Loss in Presymptomatic and Symptomatic C9orf72 Repeat Expansion Adult Carriers (2020) (15)
- Analysis of brain atrophy and local gene expression in genetic frontotemporal dementia (2019) (15)
- Antisense Oligonucleotide Mediated Splice Correction of a Deep Intronic Mutation in OPA1. (2016) (15)
- Restless Legs and Substantia Nigra Hypoechogenicity are Common Features in Friedreich’s Ataxia (2011) (15)
- Recommendations for patient screening in ultra-rare inherited metabolic diseases: what have we learned from Niemann-Pick disease type C? (2019) (15)
- ARSACS as a Worldwide Disease: Novel SACS Mutations Identified in a Consanguineous Family from the Remote Tribal Jammu and Kashmir Region in India (2019) (15)
- Fall Risk in Relation to Individual Physical Activity Exposure in Patients with Different Neurodegenerative Diseases: a Pilot Study (2019) (15)
- Identifying Niemann–Pick type C in early-onset ataxia: two quick clinical screening tools (2016) (14)
- Assessing mobility and balance in Autosomal Recessive Spastic Ataxia of Charlevoix-Saguenay population: Validity and reliability of four outcome measures (2018) (14)
- Endocrine and Growth Abnormalities in 4H Leukodystrophy Caused by Variants in POLR3A, POLR3B, and POLR1C (2020) (14)
- Case series: Slowing alpha rhythm in late-stage ALS patients (2018) (13)
- No supportive evidence for TIA1 gene mutations in a European cohort of ALS-FTD spectrum patients (2018) (13)
- A case of late-onset, thymoma-associated myasthenia gravis with ryanodine receptor and titin antibodies and concomitant granulomatous myositis (2016) (13)
- Complex hyperkinetic movement disorders associated with POLG mutations (2010) (13)
- Slowly progressive LGI1 encephalitis with isolated late‐onset cognitive dysfunction: a treatable mimic of Alzheimer's disease (2016) (13)
- A Cognitive Brain-Computer Interface for Patients with Amyotrophic Lateral Sclerosis (2015) (13)
- Kognition à la carte? (2006) (12)
- Outcomes of SARS‐CoV‐2 Infections in Patients with Neurodegenerative Diseases in the LEOSS Cohort (2021) (12)
- Brain-computer interfacing in amyotrophic lateral sclerosis: Implications of a resting-state EEG analysis (2015) (12)
- Ambulatory Activity Components Deteriorate Differently across Neurodegenerative Diseases: A Cross-Sectional Sensor-Based Study (2016) (12)
- Neuromodulation – ECT, rTMS, DBS (2010) (11)
- Soluble TAM receptors sAXL and sTyro3 predict structural and functional protection in Alzheimer’s disease (2021) (11)
- Mutations in the PDYN gene (SCA23) are not a frequent cause of dominant ataxia in Central Europe (2011) (11)
- Characterizing the Clinical Features and Atrophy Patterns of MAPT-Related Frontotemporal Dementia With Disease Progression Modeling (2021) (11)
- Polyglutamine‐Expanded Ataxin‐3: A Target Engagement Marker for Spinocerebellar Ataxia Type 3 in Peripheral Blood (2021) (11)
- Stratifying the Presymptomatic Phase of Genetic Frontotemporal Dementia by Serum NfL and pNfH: A Longitudinal Multicentre Study (2021) (11)
- Conceptual framework for the definition of preclinical and prodromal frontotemporal dementia (2021) (11)
- [Tube-feeding in advanced dementia. An evidence-based ethical analysis]. (2007) (11)
- The genetic landscape of axonal neuropathies in the middle-aged and elderly (2020) (11)
- Features of speech and swallowing dysfunction in pre-ataxic spinocerebellar ataxia type 2 (2020) (11)
- Expanding the phenotype of DNAJC3 mutations: A case with hypothyroidism additionally to diabetes mellitus and multisystemic neurodegeneration (2017) (11)
- Tau and neurofilament light‐chain as fluid biomarkers in spinocerebellar ataxia type 3 (2022) (10)
- Functional Neurosurgery and Deep Brain Stimulation (2013) (10)
- Nerve ultrasound characterizes AMN polyneuropathy as inhomogeneous and focal hypertrophic (2018) (10)
- Unraveling corticobasal syndrome and alien limb syndrome with structural brain imaging (2019) (10)
- Biallelic variants in HPDL cause pure and complicated hereditary spastic paraplegia. (2021) (10)
- Effects of exergaming on hippocampal volume and brain‐derived neurotrophic factor levels in Parkinson’s disease (2021) (10)
- Wirksam, indiziert - und dennoch ohne Nutzen? (2006) (10)
- PolyQ-expanded ataxin-3 protein levels in peripheral blood mononuclear cells correlate with clinical parameters in SCA3: a pilot study (2020) (9)
- Reply: POLR3A variants in hereditary spastic paraplegia and ataxia. (2018) (9)
- AP5Z1/SPG48 frequency in autosomal recessive and sporadic spastic paraplegia (2014) (9)
- Application of Quantitative Motor Assessments in Friedreich Ataxia and Evaluation of Their Relation to Clinical Measures (2019) (9)
- Abnormal pain perception is associated with thalamo-cortico-striatal atrophy in C9orf72 expansion carriers in the GENFI cohort (2020) (9)
- Novel likely pathogenic variants in TMEM126A identified in non-syndromic autosomal recessive optic atrophy: two case reports (2019) (9)
- GBA‐associated parkinsonism and dementia: beyond α‐synucleinopathies? (2016) (9)
- Effects of Levodopa on quality of sleep and nocturnal movements in Parkinson’s Disease (2021) (9)
- A cognitive theory of thoughts (2010) (9)
- Freezing of Swallowing (2016) (8)
- Periodic EEG patterns in sporadic Creutzfeld-Jakob-Disease can be benzodiazepine-responsive and be difficult to distinguish from non-convulsive status epilepticus (2017) (8)
- Paving the Way Toward Meaningful Trials in Ataxias: An Ataxia Global Initiative Perspective (2022) (8)
- Autosomal Recessive Cerebellar Ataxias in South America: A Multicenter Study of 1338 Patients (2022) (8)
- Absence of EEG correlates of self-referential processing depth in ALS (2017) (8)
- Neue Indikationen für die tiefe Hirnstimulation (2013) (8)
- A de novo STUB1 variant associated with an early adult-onset multisystemic ataxia phenotype (2021) (8)
- A panel of CSF proteins separates genetic frontotemporal dementia from presymptomatic mutation carriers: a GENFI study (2021) (8)
- Validation of a German version of the Cerebellar Cognitive Affective/ Schmahmann Syndrome Scale: preliminary version and study protocol (2020) (8)
- Real‐Life Turning Movements Capture Subtle Longitudinal and Preataxic Changes in Cerebellar Ataxia (2022) (8)
- Biallelic loss-of-function variations in PRDX3 cause cerebellar ataxia. (2021) (8)
- Interventionen zwischen Gehirn und Geist: Eine ethische Analyse der neuen Möglichkeiten der Neurowissenschaften (2005) (8)
- The Revised Self-Monitoring Scale detects early impairment of social cognition in genetic frontotemporal dementia within the GENFI cohort (2021) (7)
- TSFM mutations cause a complex hyperkinetic movement disorder with strong relief by cannabinoids. (2019) (7)
- Teaching NeuroImages: When alopecia and disk herniations meet vascular leukoencephalopathy (2016) (7)
- Spinocerebellar ataxia type 14: refining clinicogenetic diagnosis in a rare adult‐onset disorder (2021) (7)
- Network Localization of Alien Limb in Patients with Corticobasal Syndrome (2020) (7)
- MRI data-driven algorithm for the diagnosis of behavioural variant frontotemporal dementia (2021) (7)
- Disease-related cortical thinning in presymptomatic granulin mutation carriers (2020) (7)
- The Ethical Differences Between Psychiatric and Neurologic DBS: Smaller Than We Think? (2011) (7)
- Network structure and transcriptomic vulnerability shape atrophy in frontotemporal dementia (2022) (7)
- Documenting the psychometric properties of the scale for the assessment and rating of ataxia to advance trial readiness of Autosomal Recessive Spastic Ataxia of Charlevoix-Saguenay (2020) (7)
- Fampridine and Acetazolamide in EA2 and Related Familial EA: A Prospective Randomized Placebo-Controlled Trial. (2020) (7)
- Disentangling brain functional network remodeling in corticobasal syndrome – A multimodal MRI study (2019) (7)
- Moving Beyond Syndromic Classifications in Neurodegenerative Disease: The Example of PLA2G6 (2017) (7)
- The ARCA Registry: A Collaborative Global Platform for Advancing Trial Readiness in Autosomal Recessive Cerebellar Ataxias (2021) (7)
- CHIP mutations affect the heat shock response differently in human fibroblasts and iPSC-derived neurons (2020) (6)
- Reply to Carruthers (2009) (6)
- Case Report: Expanding the Genetic and Phenotypic Spectrum of Autosomal Recessive Spastic Ataxia of Charlevoix-Saguenay (2020) (6)
- Biallelic Parkin (PARK2) mutations can cause a bvFTD phenotype without clinically relevant parkinsonism. (2018) (6)
- Late adult-onset pure spinal muscular atrophy due to a compound HEXB macro-deletion (2013) (6)
- Generation of optic atrophy 1 patient-derived induced pluripotent stem cells (iPS-OPA1-BEHR) for disease modeling of complex optic atrophy syndromes (Behr syndrome). (2016) (6)
- Intracellular Lipid Accumulation and Mitochondrial Dysfunction Accompanies Endoplasmic Reticulum Stress Caused by Loss of the Co-chaperone DNAJC3 (2021) (6)
- De Novo and Dominantly Inherited SPTAN1 Mutations Cause Spastic Paraplegia and Cerebellar Ataxia (2022) (6)
- Reference values for the Cerebellar Cognitive Affective Syndrome Scale: age and education matter. (2020) (6)
- Comparative analysis of machine learning algorithms for multi-syndrome classification of neurodegenerative syndromes (2021) (5)
- Clinical Application of Fiber Visualization with LIC Maps Using Multidirectional Anisotropic Glyph Samples (A-Glyph LIC) (2015) (5)
- Differential Temporal Dynamics of Axial and Appendicular Ataxia in SCA3 (2022) (5)
- RFC1 repeat expansions: A recurrent cause of sensory and autonomic neuropathy with cough and ataxia (2022) (5)
- [Philosophizing about the mysteries of the brain. Overview of neurophilosophy]. (2004) (5)
- Wirksam, indiziert - und dennoch ohne Nutzen? Die Ziele der medikamentösen Demenz-Behandlung (2006) (5)
- Eingriffe in die Grundlagen der Persönlichkeit: Eine praxisorientierte ethische Analyse von Neuropharmaka und Tiefhirnstimulation (2007) (5)
- The prodromal phase of hereditary spastic paraplegia type 4: the preSPG4 cohort study. (2022) (5)
- Comparison of clinical rating scales in genetic frontotemporal dementia within the GENFI cohort (2021) (5)
- Teaching NeuroImages: Hypomyelinating leukodystrophy with hypodontia due to POLR3B (2013) (5)
- Establishment of STUB1/CHIP mutant induced pluripotent stem cells (iPSCs) from a patient with Gordon Holmes syndrome/SCAR16. (2018) (5)
- Teaching NeuroImages: MRI guides genetics (2013) (5)
- Die neuen Möglichkeiten der Neurowissenschaften und ihre ethischen Implikationen (2005) (5)
- [Genetic architecture of amyotrophic lateral sclerosis and frontotemporal dementia : Overlap and differences]. (2017) (5)
- Deep Brain Stimulation Research Ethics: The Ethical Need for Standardized Reporting, Adequate Trial Designs, and Study Registrations (2015) (4)
- Routine Clinical Testing Underestimates Proprioceptive Deficits in Friedreich’s Ataxia (2013) (4)
- Levels of Neurofilament Light at the Preataxic and Ataxic Stages of Spinocerebellar Ataxia Type 1 (2022) (4)
- Truncating Mutations in UBAP1 Cause Hereditary Spastic Paraplegia. (2019) (4)
- Neurofilaments as blood biomarkers at the preataxic and ataxic stage of spinocerebellar ataxia type 3: a cross-species analysis in humans and mice (2019) (4)
- Temporal order of clinical and biomarker changes in familial frontotemporal dementia (2022) (4)
- Philosophieren über die Rätsel des Gehirns: übersicht zur Neurophilosophie (2004) (4)
- Development of a sensitive trial-ready poly(GP) CSF biomarker assay for C9orf72-associated frontotemporal dementia and amyotrophic lateral sclerosis (2021) (4)
- Solving unsolved rare neurological diseases—a Solve-RD viewpoint (2021) (4)
- Solving unsolved rare neurological diseases—a Solve-RD viewpoint (2021) (4)
- Real‐time use of audio‐biofeedback can improve postural sway in patients with degenerative ataxia (2018) (4)
- Differential impairment of cerebrospinal fluid synaptic biomarkers in the genetic forms of frontotemporal dementia (2022) (4)
- Global network structure and local transcriptomic vulnerability shape atrophy in sporadic and genetic behavioral variant frontotemporal dementia (2021) (4)
- Boudewijn Chabot, Christian Walther (2010) Ausweg am Lebensende. Selbstbestimmtes Sterben durch freiwilligen Verzicht auf Essen und Trinken (2011) (4)
- Exploring Links Between Psychosis and Frontotemporal Dementia Using Multimodal Machine Learning (2022) (4)
- Towards ecologically valid biomarkers: real-life gait assessment in cerebellar ataxia (2019) (4)
- [Effective, indicated--and yet without benefit? The goals of dementia drug treatment and the well-being of the patient]. (2006) (4)
- Natural History of Polymerase Gamma–Related Ataxia (2021) (4)
- Deep Intronic FGF14 GAA Repeat Expansion in Late-Onset Cerebellar Ataxia. (2022) (4)
- Characterization of Lifestyle in Spinocerebellar Ataxia Type 3 and Association with Disease Severity (2021) (3)
- Gelingendes Altern: Was können Neurologie und Geriatrie beitragen? (2015) (3)
- Elevated CSF and plasma complement proteins in genetic frontotemporal dementia: results from the GENFI study (2022) (3)
- PCYT2 mutations disrupting etherlipid biosynthesis: phenotypes converging on the CDP-ethanolamine pathway. (2020) (3)
- Data‐driven staging of genetic frontotemporal dementia using multi‐modal MRI (2022) (3)
- Neurofilament light levels predict clinical progression and death in multiple system atrophy (2022) (3)
- [New indications for deep brain stimulation: ethical criteria for research and therapy]. (2013) (3)
- [Intervening in the neural basis of one's personality: a practice-oriented ethical analysis of neuropharmacology and deep-brain stimulation]. (2007) (3)
- Repeat expansions nested within tandem CNVs: A unique structural change in GLS exemplifies the diagnostic challenges of non-coding pathogenic variation. (2022) (3)
- Consensus Paper: Ataxic Gait (2022) (3)
- Characteristics of serum neurofilament light chain as a biomarker in hereditary spastic paraplegia type 4 (2022) (3)
- Predicting disease progression in behavioral variant frontotemporal dementia (2021) (3)
- Kinder und Jugendliche mit degenerativer Ataxie profitieren von videospielbasiertem Koordinationstraining (2013) (3)
- An Automated Toolbox to Predict Single Subject Atrophy in Presymptomatic Granulin Mutation Carriers. (2022) (3)
- Adult‐Onset Neurodegeneration in Nucleotide Excision Repair Disorders (NERDND): Time to Move Beyond the Skin (2022) (3)
- Comparators and Weightings (2015) (3)
- SYMPTOM ONSET IN GENETIC FRONTOTEMPORAL DEMENTIA (2017) (3)
- Dissemination in time and space in presymptomatic granulin mutation carriers: a GENFI spatial chronnectome study (2021) (3)
- Parkinsonism in neurodegenerative diseases predominantly presenting with ataxia. (2019) (3)
- Intrinsic neural timescales related to sensory processing: Evidence from abnormal behavioural states (2020) (2)
- Frequency and Longitudinal Course of Motor Signs in Genetic Frontotemporal Dementia (2022) (2)
- [Successful aging: what can neurology and geriatrics contribute?]. (2015) (2)
- [Intervening between brain and mind: an ethical analysis of the new possibilities of the neurosciences]. (2005) (2)
- Philosophieren über die Rätsel des Gehirns (2004) (2)
- Was passiert im Gehirn meines Patienten? Neuroimaging und Neurogenetik als ethische Herausforderungen in der Medizin (2007) (2)
- Home‐based biofeedback speech treatment improves dysarthria in repeat‐expansion SCAs (2022) (2)
- Correspondence on “Clinical, neuropathological, and genetic characterization of STUB1 variants in cerebellar ataxias: a frequent cause of predominant cognitive impairment” by Roux et al. (2021) (2)
- The CCAS-scale in hereditary ataxias: helpful on the group level, particularly in SCA3, but limited in individual patients (2022) (2)
- Cognitive composites for genetic frontotemporal dementia: GENFI-Cog (2021) (2)
- POLG-Associated Ataxia Presenting as a Fragile X Tremor/Ataxia Phenocopy Syndrome (2016) (2)
- Bi‐Allelic COQ4 Variants Cause Adult‐Onset Ataxia‐Spasticity Spectrum Disease (2022) (2)
- Early Recognition of Ball Catching Success in Clinical Trials with RNN-Based Predictive Classification (2021) (2)
- Assessing quality of life in patients with lumbar sciatica. (2005) (2)
- Clinical assessment of dysphagia in neurodegeneration (CADN): reliability and validity (2016) (2)
- Digital Gait Biomarkers Allow to Capture 1‐Year Longitudinal Change in Spinocerebellar Ataxia Type 3 (2022) (2)
- Invasive Brain Stimulation in the Treatment of Psychiatric Illness. (2021) (2)
- The frequency of non-motor symptoms in SCA3 and their association with disease severity and lifestyle factors (2022) (2)
- Ethical Implications of Brain Stimulation 34 (2015) (2)
- Author Correction: Biallelic mutations in SORD cause a common and potentially treatable hereditary neuropathy with implications for diabetes (2020) (2)
- Wie sollen wir Patienten mit Demenz behandeln? Die ethisch problematische Funktion der Antidementiva (2007) (2)
- Friedreich's ataxia (2008) (2)
- Utility of the Repeat and Point Test for Subtyping Patients With Primary Progressive Aphasia (2022) (1)
- Clinical management guidelines for Friedreich ataxia: best practice in rare diseases (2022) (1)
- Clinical and Molecular Findings of Autosomal Recessive Spastic Ataxia of Charlevoix Saguenay: an Iranian Case Series Expanding the Genetic and Neuroimaging Spectra. (2022) (1)
- Serum Vitamin B 12 and Folate Levels in Parkinson ’ s Disease Patients Treated with Duodenal Levodopa Infusion (2011) (1)
- Multifocal, hypoechogenic nerve thickening in Cerebrotendinous Xanthomatosis (2020) (1)
- Subtype and stage inference identifies distinct atrophy patterns in genetic frontotemporal dementia that MAP onto specific MAPT mutations (2020) (1)
- From brain volumes to subgroup classification in genetic mutation carriers for frontotemporal dementia: A cluster analysis in the GENFI study (2021) (1)
- Clinical and imaging characteristics of spinocerebellar ataxia type 14 defined in a German multi-center sample (2016) (1)
- Structural brain splitting is a hallmark of Granulin-related frontotemporal dementia (2022) (1)
- V28. KCNA2 mutations cause epileptic encephalopathy by gain- or loss-of channel function (2015) (1)
- Atypical parkinsonism with severely reduced striatal dopamine uptake associated with a 16p11.2 duplication syndrome (2019) (1)
- POLG and PEO1 (Twinkle) mutations are infrequent in PSP-like atypical parkinsonism: a preliminary screening study (2012) (1)
- FV2 From clinical motor assessments to ecologically valid biomarkers: Real-life gait assessment in cerebellar ataxia (2020) (1)
- Correction: Solving unsolved rare neurological diseases—a Solve-RD viewpoint (2021) (1)
- Absence of BiP Co-chaperone DNAJC3 causes diabetes mellitus and multisystemic neurodegeneration (The American Journal of Human Genetics (2014) 96 (689-697)) (2015) (1)
- Spinal cord damage in Friedreich's ataxia: Results from ENIGMA-Ataxia (2022) (1)
- Examining empathy deficits across familial forms of frontotemporal dementia within the GENFI cohort (2022) (1)
- Practice effects in genetic frontotemporal dementia and at-risk individuals: a GENFI study (2021) (1)
- New transgenic ALS/FTD models on the rat‐walk (2016) (1)
- LifeTime and improving European healthcare through cell-based interceptive medicine (2020) (1)
- Longitudinal Cognitive Changes in Genetic Frontotemporal Dementia Within the GENFI Cohort (2022) (1)
- The experience of free will and the experience of agency: an error-prone, reconstructive process (2015) (1)
- Severe orthostatic dysregulation associated with Wolfram syndrome (2010) (1)
- CSF glial markers are elevated in a subset of patients with genetic frontotemporal dementia (2022) (1)
- Progressive Spinal Cord Degeneration in Friedreich's Ataxia: Results from ENIGMA‐Ataxia (2022) (1)
- Pitfalls in Genetic Diagnostics: Why Phenotyping is Essential (2021) (1)
- Measuring the immeasurable? Quality of life and medical decision making. (2005) (1)
- Data-driven algorithm for the diagnosis of behavioral variant frontotemporal dementia (2019) (1)
- Wolfram Höfling (Hrsg.) (2005) Das sog. Wachkoma. Rechtliche, medizinische und ethische Aspekte. (Reihe Recht-Ethik-Gesundheit, Band 1) (2006) (1)
- Tiefe Hirnstimulation bei neuropsychiatrischen Erkrankungen – ein Modell zur ethischen Analyse künftiger Neurotechnologien? (2012) (1)
- 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 (2023) (1)
- The CBI‐R detects early behavioural impairment in genetic frontotemporal dementia (2022) (1)
- Anomia is present pre-symptomatically in frontotemporal dementia due to MAPT mutations (2022) (1)
- Case Report: Deep brain stimulation improves tremor in FGF-14 associated spinocerebellar ataxia (2022) (0)
- Supplementary Material for: Cerebrospinal Fluid Progranulin, but Not Serum Progranulin, Is Reduced in GRN-Negative Frontotemporal Dementia (2016) (0)
- TR-FRET-Based Immunoassay to Measure Ataxin-2 as a Target Engagement Marker in Spinocerebellar Ataxia Type 2 (2023) (0)
- [Cognition on demand?--The wish for cognition-enhancing drugs in medicine]. (2006) (0)
- The Benson Complex Figure Test detects deficits in visuoconstruction and visual memory in symptomatic familial frontotemporal dementia: A GENFI study (2023) (0)
- Publisher Correction: LifeTime and improving European healthcare through cell-based interceptive medicine (2021) (0)
- LONGITUDINAL ASSOCIATION BETWEEN APATHYAND COGNITIVE DECLINE IN PRE- AND POST-SYMPTOMATIC GENETIC FRONTOTEMPORAL DEMENTIA STRUCTURAL MRI TELL ABOUT A/T/N STAGING? (2019) (0)
- Correspondence on “Clinical, neuropathological, and genetic characterization of STUB1 variants in cerebellar ataxias: a frequent cause of predominant cognitive impairment” by Roux et al. (2021) (0)
- Results A family with severe early-onset ‘ optic atrophy plus ’ syndrome and asymptomatic parents (2014) (0)
- F57 Quantitative motor assessment of upper limb ataxia with q-motor: a cross-sectional validation study including novel ataxia tasks – lessons learnt for HD (2022) (0)
- Syddansk Universitet Clinical spectrum and genotype-phenotype associations of KCNA2-related encephalopathies Masnada, (2017) (0)
- F56 Quantifying fine-motor impairment in ataxia: digital parameters of q-motor spiral drawing correlate with clinical severity, function & ADLs – lessons for HD (2022) (0)
- Correction to: A guide to writing systematic reviews of rare disease treatments to generate FAIRcompliant datasets: building a Treatabolome (2021) (0)
- Motor symptoms in genetic frontotemporal dementia: developing a new module for clinical rating scales (2022) (0)
- PP3.6 – 2106 Early onset ataxia – an international database (2013) (0)
- Niemann–Pick Type C in Early-Onset Ataxia (2016) (0)
- European pediatric normative values for the scale for assessment and rating of ataxia (SARA) (2016) (0)
- Characterizing POLG Ataxia: Clinics, Electrophysiology and Imaging (2012) (0)
- Trajectory of apathy, cognition and neural correlates in the decades before symptoms in frontotemporal dementia (2020) (0)
- Plasma Neuro fi lament Light for Prediction of Disease Progression in Familial Frontotemporal Lobar Degeneration (0)
- Friedreich Ataxia: Dysarthria Profile and Clinical Data (2013) (0)
- Temporal dynamics predict symptom onset and cognitive decline in familial frontotemporal dementia. (2022) (0)
- Contents Vol. 8, 2011 (2011) (0)
- Neurorehabilitation in degenerative cerebellar disease: improvements of ataxia-specific dysfunctions by physiotherapy and exergames (2014) (0)
- Heterozygous UCHL1 loss-of-function variants cause a neurodegenerative disorder with spasticity, ataxia, neuropathy, and optic atrophy. (2022) (0)
- The impact of bilingualism on cognitive functions across the lifespan and in brain diseases (2016) (0)
- Pattern of Cerebellar Atrophy in Friedreich’s Ataxia—Using the SUIT Template (2019) (0)
- Structural MRI predicts clinical progression in presymptomatic genetic frontotemporal dementia: findings from the GENetic Frontotemporal dementia Initiative cohort (2023) (0)
- European SARA age validation trial in children -Preliminary results- (2015) (0)
- Blood neurofilament light chain levels are associated with disease progression in a transgenic SCA3 mouse model (2023) (0)
- Frequency and phenotype of SPG11 and SPG15 in complicated spastic paraplegia (HSP) (2019) (0)
- D90A-SOD1 ALS mimicking monoclonal gammopathy-associated ALS (2012) (0)
- Evolution of Clinical Outcome Measures and Biomarkers in Sporadic Adult‐Onset Degenerative Ataxia (2023) (0)
- Short-read genome sequencing allows 'en route' diagnosis of patients with atypical Friedreich ataxia. (2023) (0)
- Standards of NGS Data Sharing and Analysis in Ataxias: Recommendations by the NGS Working Group of the Ataxia Global Initiative. (2023) (0)
- The inner fl uctuations of the brain in presymptomatic Frontotemporal Dementia : The chronnectome fi ngerprint (2019) (0)
- Characterizing POLG-Ataxia: Clinics, Electrophysiology, and Imaging (IN7-1.001) (2012) (0)
- PNPLA 6 seed analysis in more than 500 exomes of index patients with ataxia , hereditary spastic paraplegia and Charcot – Marie – Tooth disease (2014) (0)
- Specific pontine MRI-pattern is a helpful marker to recognize ataxia Charlevoix-Saguenay (2013) (0)
- Speech and Nonspeech Parameters in the Clinical Assessment of Dysarthria: A Dimensional Analysis (2023) (0)
- A data‐driven disease progression model of fluid biomarkers in genetic FTD (2021) (0)
- Early neurotransmitters changes in prodromal frontotemporal dementia: A GENFI study (2023) (0)
- Multi-modal multi-centre MRI study of rare spinocerebellar ataxia, type 14 (2017) (0)
- Videojuegos para la rehabilitación motora (2016) (0)
- Neuroenhancement als Zukunftsproblem? Ein Vorschlag zur Risikoregulierung (2011) (0)
- [What happens in the brain of my patients? Neuroimaging and neurogenetics as ethical challenges in medicine]. (2007) (0)
- How should we treat dementia patients? The ethically problematic function of antidementia drugs (2007) (0)
- Development of tailored splice-switching oligonucleotides for progressive brain disorders in Europe: development, regulation, and implementation considerations (2023) (0)
- Leukodystrophies in idiopathic adult‐onset ataxia: Frequency and phenotype in 105 patients (2013) (0)
- Sensory axonal neuropathy in RFC1-disease: tip of the iceberg of broad subclinical multisystemic neurodegeneration. (2022) (0)
- Corrigendum to “Dissemination in time and space in presymptomatic granulin mutation carriers: A spatial chronnectome study” [Neurobiology of Aging Volume 108, December 2021, Pages 155–167] (2022) (0)
- Low oxygen tension induces misfolding and aggregation of superoxide dismutase in ALS patient-derived motor neurons (2016) (0)
- Hierarchical spectral clustering reveals brain size and shape changes in asymptomatic carriers of C9orf72 (2022) (0)
- FW 013 Assessing tissue damage and repair in multiple sclerosis by positron emission tomography (2016) (0)
- De novo ITPR1 variants are a recurrent cause of early-onset ataxia, acting via loss of channel function (2018) (0)
- Weighting models and weighting factors : reply (2012) (0)
- Elevated CSF and plasma complement proteins in genetic frontotemporal dementia: results from the GENFI study (2022) (0)
- Whole-body controlled video games improve dynamic stability in children with degenerative cerebellar disease (2013) (0)
- Correction: Solving unsolved rare neurological diseases—a Solve-RD viewpoint (2021) (0)
- Differential synaptic marker involvement in the different genetic forms of frontotemporal dementia (2021) (0)
- Erratum to: Biallelic variants in HPDL cause pure and complicated hereditary spastic paraplegia. (2021) (0)
- Correction: Solving unsolved rare neurological diseases—a Solve-RD viewpoint (2021) (0)
- Contents Vol. 16, 2016 (2016) (0)
- Twist exome capture allows for lower average sequence coverage in clinical exome sequencing (2023) (0)
- Ataxia and spastic paraplegia in mitochondrial disease. (2023) (0)
- Cognitive composites for genetic frontotemporal dementia: GENFI-Cog (2022) (0)
- Cerebellar and subcortical atrophy contribute to psychiatric symptoms in frontotemporal dementia (2021) (0)
- Correction to: A nonsynonymous mutation in PLCG2 reduces the risk of Alzheimer’s disease, dementia with Lewy bodies and frontotemporal dementia, and increases the likelihood of longevity (2020) (0)
- A panel of CSF proteins separates genetic frontotemporal dementia from presymptomatic mutation carriers: a GENFI study (2021) (0)
- Motor speech and swallowing phenotype of Autosomal Recessive Spastic Ataxia of Charlevoix-Saguenay (ARSACS) (2018) (0)
- Neuropsychiatric symptoms in genetic frontotemporal dementia: developing a new module for Clinical Rating Scales (2023) (0)
- Loss of brainstem white matter predicts onset and motor neuron symptoms in C9orf72 expansion carriers: a GENFI study (2022) (0)
- Genetic forms of primary progressive aphasia within the GENetic Frontotemporal dementia Initiative (GENFI) cohort: comparison with sporadic primary progressive aphasia (2023) (0)
- French Translation and Cross-cultural Adaptation of the Scale for the Assessment and Rating of Ataxia. (2022) (0)
- Expanding PRDX3 disease: broad range of onset age and infratentorial MRI signal changes. (2022) (0)
- Correction to: Solving patients with rare diseases through programmatic reanalysis of genome-phenome data (2021) (0)
- Multiclass prediction of different dementia syndromes based on multi-centric volumetric MRI imaging (2023) (0)
- Brain activation in frontotemporal and Alzheimer’s dementia: a functional near-infrared spectroscopy study (2016) (0)
- ARSACS as a Worldwide Disease: Novel SACS Mutations Identified in a Consanguineous Family from the Remote Tribal Jammu and Kashmir Region in India (2019) (0)
- Mutations in PNPLA6 Cause a Range of Neurodegenerative Phenotypes (P6.060) (2014) (0)
- Neurodevelopmental effects of genetic frontotemporal dementia in young adult mutation carriers. (2022) (0)
- Pattern of progression in MAPT‐related frontotemporal dementia: Results from the GENFI study (2021) (0)
- Die Rolle interner Modelle bei der Wahrnehmung von Eigenbewegungen (2008) (0)
- Genetische Architektur der amyotrophen Lateralsklerose und frontotemporalen Demenz: Überlappung und Unterschiede (2017) (0)
- Genetische Diagnostik zerebellärer Ataxien (2023) (0)
- M09 Mitochondrial physiology is compromised by mutations in DNAJC3 and may contribute to the clinical presentation of diabetes and neurodegeneration (2017) (0)
- Scale for the Assessment and Rating of Ataxia (SARA): Development of a Training Tool and Certification Program. (2023) (0)
- Supplementary Material for: Ambulatory Activity Components Deteriorate Differently across Neurodegenerative Diseases: A Cross-Sectional Sensor-Based Study (2016) (0)
- Klinik und Genetik autosomal-rezessiver Ataxien (2015) (0)
- Feedback inhibition of cAMP effector signaling by a chaperone-assisted ubiquitin system (2019) (0)
- Specific Gait Changes in Prodromal Hereditary Spastic Paraplegia Type 4: preSPG4 Study (2022) (0)
- Genetische Architektur der amyotrophen Lateralsklerose und frontotemporalen Demenz (2017) (0)
- Access to Essential Medicines: Global Justice beyond Equality (2016) (0)
- Seltene Ursache einer primären Nebennierenrindeninsuffizienz – Fall 6/2011 (2011) (0)
- C9orf72 is differentially expressed in the central nervous system and myeloid cells and consistently reduced in C9orf72, MAPT and GRN mutation carriers (2016) (0)
- OUTCOME MEASURES P.248 Documenting the psychometric properties of the SARA to advance trial readiness in autosomal recessive spastic ataxia of Charlevoix-Saguenay (2020) (0)
- The Free Cued Selective Reminding Test detects episodic memory impairment in the presymptomatic period of familial frontotemporal dementia within the GENFI cohort (2020) (0)
- TBK1 loss-of function and dominant-negative mutations in an extended European cohort of FTD and ALS patients (2016) (0)
- P208 – 1790 EPNS SARA age validation trial: preliminary results (2013) (0)
- Counterregulation of cAMP-directed kinase activities controls ciliogenesis (2018) (0)
- LONGITUDINAL ASSOCIATION BETWEEN APATHY AND COGNITIVE DECLINE IN PRE- AND POST-SYMPTOMATIC GENETIC FRONTOTEMPORAL DEMENTIA (2019) (0)
- Structural correlates of language processing in primary progressive aphasia (2023) (0)
- Differential impairment of cerebrospinal fluid synaptic biomarkers in the genetic forms of frontotemporal dementia (2022) (0)
- Routine Clinical Testing Underestimates Proprioceptive Deficits in Friedreich’s Ataxia (2013) (0)
- Correction to: Solve-RD: systematic pan-European data sharing and collaborative analysis to solve rare diseases (2021) (0)
- Friedreich Ataxie: eine demyelinisierende Erkrankung der weißen Substanz mit Korrelation zur Klinik (2016) (0)
- Author ' s personal copy Reply Reply to Carruthers q (2009) (0)
- The Revised Self-Monitoring Scale detects early impairment of social cognition in genetic frontotemporal dementia within the GENFI cohort (2021) (0)
- Atrophy patterns in sporadic and genetic behavioral variant frontotemporal dementia reflect brain network architecture (2021) (0)
- Philosophieren ber die Rtsel des Gehirns: bersicht zur Neurophilosophie (2004) (0)
- Koordination im Mittelpunkt (2007) (0)
- Deformation field morphometry study in a German multicenter SCA14 cohort reveals only a cerebellar volume deficit (2016) (0)
- Potential genetic modifiers of disease risk and age at onset in patients with frontotemporal dementia and GRN mutations : a genome-wide association study (2018) (0)
- 6 – Hereditäre Bewegungsstörungen (2014) (0)
- Spinocerebellar ataxia type 36 (SCA36): Expanding the Genotype and Phenotype (2013) (0)
- Detecting clinical progression from abnormal regional brain volumes at baseline in genetic frontotemporal dementia: A GENFI study (2021) (0)
- Correction to: Solving patients with rare diseases through programmatic reanalysis of genome-phenome data (2021) (0)
- Serum NfL in spinocerebellar ataxia type 1 is increased already at the preataxic stage, correlating with proximity to clinical onset (2021) (0)
- [Rare differential diagnosis of primary adrenal insufficiency: case 6/2011]. (2011) (0)
- Correction to: Solving patients with rare diseases through programmatic reanalysis of genome-phenome data (2021) (0)
- POLG-Associated Ataxia Presenting as a Fragile X Tremor/Ataxia Phenocopy Syndrome (2016) (0)
- Fall Risk in Relation to Individual Physical Activity Exposure in Patients with Different Neurodegenerative Diseases: a Pilot Study (2019) (0)
- Leukodystrophies in Patients with Adult-Onset Ataxia: Frequency and Phenotype (P05.020) (2012) (0)
- Table 2. [PNPLA6 Pathogenic Variants Discussed in This GeneReview]. (2015) (0)
- Table 1. [Summary of Molecular Genetic Testing Used in PNPLA6-Related Disorders]. (2015) (0)
- Language impairment in the genetic forms of behavioural variant frontotemporal dementia (2022) (0)
- Soluble TAM receptor biomarkers: Neuroprotection in AD neuroinflammation?" (2022) (0)
- TITLE PAGE Title: Faster Cortical Thinning and Surface Area Loss in Presymptomatic and Symptomatic C9orf72 Repeat Expansion Adult Carriers Running head: Cortical thinning in C9orf72 expansion carriers (2020) (0)
- Correction to: Consensus Paper: Ataxic Gait (2022) (0)
- [Table, GeneReview Scope]. (2015) (0)
- Comparative analysis of machine learning algorithms for multi-syndrome classification of neurodegenerative syndromes (2022) (0)
- Consensus Recommendations for Clinical Outcome Assessments and Registry Development in Ataxias: Ataxia Global Initiative (AGI) Working Group Expert Guidance. (2023) (0)
- Cerebellar Bottom of Fissure Hyperintensities in MT‐ATP6‐Associated Ataxia (2022) (0)
- De Novo ITPR1 Variants Are a Cause of Early-Onset Ataxia (2018) (0)
- Turning movements in real life capture subtle longitudinal and preataxic changes in cerebellar ataxia (2021) (0)
- Autosomal Recessive Cerebellar Ataxias in Europe: Frequency, Onset, and Severity in 677 Patients. (2023) (0)
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