System-Neurodegeneration

Die Forschungsgruppe von PD Dr. Matthis Synofzik ist spezialisiert auf die Erforschung  genetischer Grundlagen, system-neurologischer Charakteristika und paradigmatischer Therapieansätze bei

  • Bewegungsstörungen (v.a. degenerative Ataxien, insbesondere frühbeginnende Ataxien; neurometabolische Erkrankungen; komplexe seltene Bewegungsstörungen)
  • frontotemporale Demenzen und andere komplexe Demenzen (u.a. frühbeginnende Demenzen, seltene Varianten der Alzheimer-Demenz, genetische Demenz-Formen)
  • Motorneuronerkrankungen (Amyotrophe Lateralsklerose, v.a. hereditäre Formen; ALS-FTD-Spektrum-Erkrankungen; lysosomale Motorneuronerkrankungen).

… mehr Info

Forschungsprojekte
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Ambulanzen

Netzwerk-Register für frühbeginnende Ataxien

 

Frühbeginnende Ataxien sind eine heterogene Gruppe neurodegenerativer und metabolischer Erkrankungen, die meist genetisch verursacht und autosomal-rezessiv vererbt werden. Dieses internationale, prospektive, multizentrisches Netzwerk-Register zielt darauf ab:

-> Phänotypische Charakteristika und den natürlichen Verlauf frühbeginnender Ataxien zu untersuchen und eine große Kohorte an Patienten, die an frühbeginnender Ataxie leiden, zusammenzustellen, um den Weg für künftige Therapiestudien zu ebnen.

-> Umfassende genetische Analysen zur molekularen Diagnosefinding sowie Biomarker-Charakterisierung für frühbeginnende Ataxien durchzuführen

->  LINK


 
Name
Arbeitsgruppe
Telefon
E-Mail
 Zofia Fleszar
Zofia Fleszar MD Student
Cognitive Neurology
07071 29-89125 
 Julia Göddel-Sand
Julia Göddel-Sand MD Student
Systemneurodegeneration
07071 29-89131 
 Eva-Maria Kraus
Eva-Maria Kraus MD Student
Systemneurodegeneration
07071 29-82060 
M.Sc Selina Reich
M.Sc Selina Reich Project Coordinator
Systemneurodegeneration
07071 29-87609 
 Lisa Helene Stoll
Lisa Helene Stoll Speech scientist
Systemneurodegeneration
07071 29-68399 
PD Dr. Matthis Synofzik
PD Dr. Matthis Synofzik Research Group Leader
Systemneurodegeneration
07071 29-82060 
Dr. Carlo Wilke
Dr. Carlo Wilke Medical Doctor
Research Division Clinical Neurogenetics
07071 29-82060 

Artikel

 

2017

 

Bis DM, Schüle R, Reichbauer J, Synofzik M, Rattay T, Söhn A, De Jonghe P, Schöls L, Züchner S (2017) Uniparental disomy determined by whole-exome sequencing in a spectrum of rare motoneuron diseases and ataxias. Molecular genetics & genomic medicine in press.

Schatton C, Synofzik M, Fleszar Z, Giese MA, Schöls L, Ilg W (2017) Individualized exergame training improves postural control in advanced degenerative spinocerebellar ataxia:  a rater-blinded, intra-individually controlled trial. Parkinsonism & related disorders provisionally accepted.

Hendriksz CJ, Anheim M, Bauer P, Bonnot O, Chakrapani A, Corvol JC, de Koning, T J, Degtyareva A, Dionisi-Vici C, Doss S, Duning T, Giunti P, Iodice R, Johnston T, Kelly D, Klunemann HH, Lorenzl S, Padovani A, Pocovi M, Synofzik M, Terblanche A, Then Bergh, F, Topcu M, Tranchant C, Walterfang M, Velten C, Kolb SA   (2017) The hidden Niemann-Pick type C patient: clinical niches for a rare inherited metabolic disease. Current medical research and opinion:1-14.

Ozes B, Karagoz N, Schüle R, Harmuth F, Rebelo A, Sobrido M-J, Synofzik M, Pascual SIP, Colak M, Ciftci-Kavaklioglu B, Kara B, Ordóñez-Ugalde A, Quintáns B, Gonzalez M, Soysal A, Zuchner S, Battaloglu E (2017) PLA2G6 mutations associated with a continuous clinical spectrum from neuroaxonal dystrophy to hereditary spastic paraplegia. Clinical genetics in press.

Minnerop M, Kurzwelly, D, Wagner H, Soehn A, Reichbauer, J, Tao F, Rattay, T, Peitz M, Giorgetti A, Pyle A, Thiele H, Altmüller, J, Timmann D, Karaca I, Lennarz M, Baets, J, Hengel H, Synofzik M, Atasu B, Feely S., [….] Ramirez A, Schüle R (2017) Hypomorphic mutations in POLR3A are a frequent cause of sporadic and recessive spastic ataxia. Brain; in press.

Synofzik M, Schule R (2017) Overcoming the divide between ataxias and spastic paraplegias: Shared phenotypes, genes, and pathways. Mov Disord. Epub ahead of print.

Hayer SN, Deconinck T, Bender B, Smets K, Zuchner S, Reich S, Schols L, Schule R, De Jonghe P, Baets J, Synofzik M (2017) STUB1/CHIP mutations cause Gordon Holmes syndrome as part of a widespread multisystemic neurodegeneration: evidence from four novel mutations. Orphanet Journal of Rare Diseases 12:31.

van der Zee J, Gijselinck I, Van Mossevelde S, Perrone F, Dillen L, Heeman B, Bäumer V, Engelborghs S, De Bleecker J, Baets J, Gelpi E, Rojas-García R, Clarimón J, Lleó A, Diehl-Schmid J, Alexopoulos P, Perneczky R, Synofzik M, Just J, Schöls L, Graff C, Thonberg H, Borroni B, Padovani A, Jordanova A, Sarafov S, Tournev I, de Mendonça A, Miltenberger-Miltényi G, Simões do Couto F, Ramirez A, Jessen F, Heneka MT, Gómez-Tortosa E, Danek A, Cras P, Vandenberghe R, De Jonghe P, De Deyn PP, Sleegers K, Cruts M, Van Broeckhoven C, Goeman J, Nuytten D, Smets K, Robberecht W, Damme PV, Bleecker J, Santens P, Dermaut B, Versijpt J, Michotte A, Ivanoiu A, Deryck O, Bergmans B, Delbeck J, Bruyland M, Willems C, Salmon E, Pastor P, Ortega-Cubero S, Benussi L, Ghidoni R, Binetti G, Hernández I, Boada M, Ruiz A, Sorbi S, Nacmias B, Bagnoli S, Sorbi S, Sanchez-Valle R, Llado A, Santana I, Rosário Almeida M, Frisoni GB, Maetzler W, Matej R, Fraidakis MJ, Kovacs GG, Fabrizi GM, Testi S.  (2017) TBK1 Mutation Spectrum in an Extended European Patient Cohort with Frontotemporal Dementia and Amyotrophic Lateral Sclerosis. Hum Mutat 38: 297-309

Estrada-Cuzcano A,  Martin, S., Chamova, T., Synofzik, M., Timmann, D., Holemans,T., Andreeva, A., Reichbauer, J., De Rycke, R., Chang, D. I, van Veen, S., Samuel, J., Schols, L., Poppel, T., Mollerup Sorensen, D., Asselbergh, B., Klein, C., Zuchner, S., Jordanova, A., Vangheluwe, P., Tournev, I., Schule, R. (2017) Loss-of-function mutations in the ATP13A2/PARK9 gene cause complicated hereditary spastic paraplegia (SPG78). Brain 140:287-305.

Synofzik M, Gasser T. Moving beyond syndromic classifications in neurodegenerative disease: the example of PLA2G6. Movement Disorders Clinical Practice. 2017;4:8–11. doi:0.1002/mdc3.12441.

Miske, R., Gross, C. C., Scharf, M., Golombeck, K. S., Hartwig, M., Bhatia, U., Schulte-Mecklenbeck, A., Bonte, K., Strippel, C., Schols, L., Synofzik, M., Lohmann, H., Dettmann, I. M., Deppe, M., Mindorf, S., Warnecke, T., Denno, Y., Teegen, B., Probst, C.,Brakopp, S., Wandinger, K. P., Wiendl, H., Stocker, W., Meuth, S. G., Komorowski, L., Melzer, N. (2017) Neurochondrin is a neuronal target antigen in autoimmune cerebellar degeneration. Neurology: Neuroimmunology & Neuroinflammation Jan;4(1)4:e307.

 

2016

 

Metzger FG, Schopp B, Haeussinger FB, Dehnen K, Synofzik M, Fallgatter AJ, Ehlis AC (2016) Brain activation in frontotemporal and Alzheimer's dementia: a functional near-infrared spectroscopy study. Alzheimer's research & therapy 8:56.

Hauser S, Schuster S, Theurer Y, Synofzik M, Schols L (2016) Generation of optic atrophy 1 patient-derived induced pluripotent stem cells (iPS-OPA1-BEHR) for disease modeling of complex optic atrophy syndromes (Behr syndrome). Stem cell research 17:426-429.

Klenk J, Schwickert L, Palmerini L, Mellone S, Bourke A, Ihlen EA, Kerse N, Hauer K, Pijnappels M, Synofzik M, Srulijes K, Maetzler W, Helbostad JL, Zijlstra W, Aminian K, Todd C, Chiari L, Becker C, Consortium F (2016) The FARSEEING real-world fall repository: a large-scale collaborative database to collect and share sensor signals from real-world falls. European review of aging and physical activity : official journal of the European Group for Research into Elderly and Physical Activity 13:8.

Bonifert T, Gonzalez Menendez I, Battke F, Theurer Y, Synofzik M, Schols L, Wissinger B (2016) Antisense Oligonucleotide Mediated Splice Correction of a Deep Intronic Mutation in OPA1. Molecular therapy Nucleic acids 5:e390.

Ilg W, Fleszar Z, Schatton C, Hengel H, Harmuth F, Bauer P, Timmann D, Giese M, Schols L, Synofzik M (2016) Individual changes in preclinical spinocerebellar ataxia identified via increased motor complexity. Mov Disord 31:1891-1900.

Kruger S, Battke F, Sprecher A, Munz M, Synofzik M, Schols L, Gasser T, Grehl T, Prudlo J, Biskup S (2016) Rare Variants in Neurodegeneration Associated Genes Revealed by Targeted Panel Sequencing in a German ALS Cohort. Frontiers in Molecular Neuroscience 9:92.

Stegmüller J, Synofzik M (2016) New transgenic ALS/FTD models on the rat-walk. J Neurochemistry 139(2):159-161.

Hohmann MR, Fomina T, Jayaram V, Widmann N, Forster C, Just J, Synofzik M, Scholkopf B, Schols L, Grosse-Wentrup M (2016) A cognitive brain-computer interface for patients with amyotrophic lateral sclerosis. Prog Brain Res 228:221-239.

Stefanou MI, Komorowski L, Kade S, Bornemann A, Ziemann U, Synofzik M (2016) A case of late-onset, thymoma-associated myasthenia gravis with ryanodine receptor and titin antibodies and concomitant granulomatous myositis. BMC neurology 16:172.

Synofzik M, Gasser T (2016) Moving beyond syndromic classifications in neurodegenerative disease: the example of PLA2G6. Movement Disorders Clinical Practice.

Wilke C, Gillardon F, Deuschle C, Hobert MA, Jansen IE, Metzger FG, Heutink P, Gasser T, Maetzler W, Blauwendraat C, Synofzik M (2016) Cerebrospinal Fluid Progranulin, but Not Serum Progranulin, Is Reduced in GRN-Negative Frontotemporal Dementia. Neuro-degenerative diseases 17:83-88.

Helbig KL Hedrich UB, Shinde DN, Krey I, Teichmann AC, Hentschel J, Schubert J, Chamberlin AC, Huether R, Lu HM, Alcaraz WA, Tang S, Jungbluth C, Dugan SL, Vainionpaa L, Karle KN, Synofzik M, Schols L, Schule R, Lehesjoki AE, Helbig I, Lerche H, Lemke JR. (2016) A recurrent mutation in KCNA2 as a novel cause of hereditary spastic paraplegia and ataxia. Annals of Neurology, 80 (4).  doi:10.1002/ana.24762

Vogel AP, Wardrop MI, Folker JE, Synofzik M, Corben LA, Delatycki MB, Awan SN (2016) Voice in Friedreich Ataxia. Journal of voice : official journal of the Voice Foundation.

Synofzik M, Nemeth A (2016) New genes and developments in the diagnosis of ataxias. Journal of Rare Disorders 4:3-9.

Synofzik M, Fleszar Z, Schols L, Just J, Bauer P, Torres Martin JV, Kolb S (2016) Identifying Niemann-Pick type C in early-onset ataxia: two quick clinical screening tools. Journal of neurology 263:1911-1918.

Wilke C, Preische O, Deuschle C, Roeben B, Apel A, Barro C, Maia L, Maetzler W, Kuhle J, Synofzik M (2016) Neurofilament light chain in FTD is elevated not only in cerebrospinal fluid, but also in serum. J Neurol Neurosurg Psychiatry 87:1270-1272.

Klenk J, Srulijes K, Schatton C, Schwickert L, Maetzler W, Becker C, Synofzik M (2016) Ambulatory Activity Components Deteriorate Differently across Neurodegenerative Diseases: A Cross-Sectional Sensor-Based Study. Neurodegenerative Diseases 16:317-323.

Rizzu P, Blauwendraat C, Heetveld S, Lynes EM, Castillo-Lizardo M, Dhingra A, Pyz E, Hobert M, Synofzik M, Simon-Sanchez J, Francescatto M, Heutink P (2016) C9orf72 is differentially expressed in the central nervous system and myeloid cells and consistently reduced in C9orf72, MAPT and GRN mutation carriers. Acta Neuropathologica Communications 4:37.

Roeben B, Uhrig S, Bender B, Synofzik M (2016) Teaching NeuroImages: When alopecia and disk herniations meet vascular leukoencephalopathy: CARASIL. Neurology 86:e166-167.

Synofzik M, Smets K, Mallaret M, Di Bella D, Gallenmuller C, Baets J, Schulze M, Magri S, Sarto E, Mustafa M, Deconinck T, Haack T, Zuchner S, Gonzalez M, Timmann D, Stendel C, Klopstock T, Durr A, Tranchant C, Sturm M, Hamza W, Nanetti L, Mariotti C, Koenig M, Schols L, Schule R, de Jonghe P, Anheim M, Taroni F, and Bauer P. (2016)  SYNE1 ataxia is a common recessive ataxia with major non-cerebellar features: a large multi-centre study. BRAIN 139: 1378-1393.

Mademan I, Harmuth F, Giordano I, Timmann D, Magri S, Deconinck T, Claassen J, Jokisch D, Genc G, Di Bella D, Romito S, Schule R, Zuchner S, Taroni F, Klockgether T, Schols L, De Jonghe P, Bauer P, Early Onset Ataxia Consortium, Baets J, and Synofzik M. (2016) Multisystemic SYNE1 ataxia: confirming the high frequency and extending the mutational and phenotypic spectrum. BRAIN 139:8:e46.

Marquetand J, van Lessen M, Bender B, Reimold M, Elsen G, Stoecker W, Synofzik M (2016) Slowly progressive LGI1 encephalitis with isolated late-onset cognitive dysfunction: a treatable mimic of Alzheimer's disease. European Journal of Neurology 23:e28-29.

Paucar M, Engvall M, Gordon L, Tham E, Synofzik M, Svenningsson P (2016) POLG-Associated Ataxia Presenting as a Fragile X Tremor/Ataxia Phenocopy Syndrome. Cerebellum 15:632-635.

Wilke C, Gillardon F, Deuschle C, Dubois E, Hobert MA, Vom Hagen JM, Kruger S, Biskup S, Blauwendraat C, Hruscha M, Kaeser SA, Heutink P, Maetzler W, Synofzik M (2016) Serum Levels of Progranulin Do Not Reflect Cerebrospinal Fluid Levels in Neurodegenerative Disease. Curr Alzheimer Res 13:654-662.

Maetzler W, Rattay T, Hobert M, Synofzik M, Bader A, Berg D, Schaefer E, Rommel N, Devos D, Bloem BR, Bender B (2016) Freezing of Swallowing. Movement Disorders Clinical Practice 3:490-493.

Keskin I, Forsgren E, Lange DJ, Weber M, Birve A, Synofzik M, Gilthorpe JD, Andersen PM, Marklund SL (2016) Effects of Cellular Pathway Disturbances on Misfolded Superoxide Dismutase-1 in Fibroblasts Derived from ALS Patients. PloS One 11:e0150133.

Wilke C, Pomper JK, Biskup S, Puskas C, Berg D, Synofzik M (2016) Atypical parkinsonism in C9orf72 expansions: a case report and systematic review of 45 cases from the literature. J Neurol 263:558-574.

 

2015

 

Jayaram V, Widmann N, Forster C, Fomina T, Hohmann M, Muller Vom Hagen J, Synofzik M, Scholkopf B, Schols L, Grosse-Wentrup M (2015) Brain-computer interfacing in amyotrophic lateral sclerosis: Implications of a resting-state EEG analysis. Conf Proc IEEE Eng Med Biol Soc 2015:6979-6982.

Holler M, Ehricke HH, Synofzik M, Klose U, Groeschel S (2015) Clinical Application of Fiber Visualization with LIC Maps Using Multidirectional Anisotropic Glyph Samples (A-Glyph LIC). Clinical Neuroradiology. Epub online.

Pilotto A, Schulte C, Hauser AK, Biskup S, Munz M, Brockmann K, Schaeffer E, Synofzik M, Maetzler W, Suenkel U, Srulijes K, Gasser T, Berg D (2015) GBA-associated parkinsonism and dementia: beyond alpha-synucleinopathies? European Journal of Neurology. Epub ahead of print.

Blauwendraat C, Wilke C, Jansen IE, Schulte C, Simon-Sanchez J, Metzger FG, Bender B, Gasser T, Maetzler W, Rizzu P, Heutink P, Synofzik M (2015) Pilot whole-exome sequencing of a German early-onset Alzheimer's disease cohort reveals a substantial frequency of PSEN2 variants. Neurobiology of Aging. Epub ahead of print.

Thal DR, Zuchner S, Gierer S, Schulte C, Schols L, Schule R, Synofzik M (2015) Abnormal Paraplegin Expression in Swollen Neurites, tau- and alpha-Synuclein Pathology in a Case of Hereditary Spastic Paraplegia SPG7 with an Ala510Val Mutation. International Journal of Molecular Sciences 16:25050-25066.

Srulijes K, Mack DJ, Klenk J, Schwickert L, Ihlen EA, Schwenk M, Lindemann U, Meyer M, K CS, Hobert MA, Brockmann K, Wurster I, Pomper JK, Synofzik M, Schneider E, Ilg U, Berg D, Maetzler W, Becker C (2015) 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. BMC Neurology 15:192.

Gentsch A, Weber A, Synofzik M, Vosgerau G, Schutz-Bosbach S (2016) Towards a common framework of grounded action cognition: Relating motor control, perception and cognition. Cognition 146:81-89.

Synofzik M, Harmuth F, Stampfer M, Muller Vom Hagen J, Schols L, Bauer P (2015) NPC1 is enriched in unexplained early onset ataxia: a targeted high-throughput screening. Journal of Neurology 262:2557-2563.

Strickland AV, Schabhuttl M, Offenbacher H, Synofzik M, Hauser NS, Brunner-Krainz M, Gruber-Sedlmayr U, Moore SA, Windhager R, Bender B, Harms M, Klebe S, Young P, Kennerson M, Garcia AS, Gonzalez MA, Zuchner S, Schule R, Shy ME, Auer-Grumbach M (2015) Mutation screen reveals novel variants and expands the phenotypes associated with DYNC1H1. Journal of Neurology 262:2124-2134.

Sultana S, Reichbauer J, Schule R, Mochel F, Synofzik M, van der Spoel AC (2015) Lack of enzyme activity in GBA2 mutants associated with hereditary spastic paraplegia/cerebellar ataxia (SPG46). Biochemical and Biophysical Research Communications 465:35-40.

Smets K, Duarri A, Deconinck T, Ceulemans B, van de Warrenburg BP, Zuchner S, Gonzalez MA, Schule R, Synofzik M, Van der Aa N, De Jonghe P, Verbeek DS, Baets J (2015) First de novo KCND3 mutation causes severe Kv4.3 channel dysfunction leading to early onset cerebellar ataxia, intellectual disability, oral apraxia and epilepsy. BMC Medical Genetics 16:51.

Syrbe S, Hedrich UB, Riesch E. [….] Synofzik M, …[…], Lerche H, Lemke J.R.  (2015) De novo loss- or gain-of-function mutations in KCNA2 cause epileptic encephalopathy. Nat Genet 47:393-399

Synofzik M, Maetzler W (2015) [Successful aging: what can neurology and geriatrics contribute?]. Nervenarzt 86:475-480.

Gentsch A, Weiss C, Spengler S, Synofzik M, Schutz-Bosbach S (2015) Doing good or bad: How interactions between action and emotion expectations shape the sense of agency. Social neuroscience:1-13.

Doss, S., K. P. Wandinger, B. T. Hyman, J. A. Panzer, M. Synofzik, B. Dickerson, B. Mollenhauer, et al. "High Prevalence of NMDA Receptor IgA/IgM Antibodies in Different Dementia Types." Ann Clin Transl Neurol 1, no. 10 (Oct 2014): 822-32.

Obayashi M G. Stevanin, M. Synofzik, M. L. Monin, C. Duyckaerts, N. Sato, N. Streichenberger, et al. (2015) Spinocerebellar ataxia type 36 exists in diverse populations and can be caused by a short hexanucleotide GGCCTG repeat expansion. J Neurol Neurosurg Psychiatry 86:986-995.

 Wilke C, Deuschle C, Rattay TW, Maetzler W, Synofzik M (2015) Total tau is increased, but phosphorylated tau not decreased, in cerebrospinal fluid in amyotrophic lateral sclerosis. Neurobiology of aging 36:1072-1074.

Tarnutzer AA, Gerth-Kahlert C, Timmann D, Chang DI, Harmuth F, Bauer P, Straumann D, Synofzik M (2015) Boucher-Neuhauser syndrome: cerebellar degeneration, chorioretinal dystrophy and hypogonadotropic hypogonadism: two novel cases and a review of 40 cases from the literature. Journal of Neurology 262:194-202.

 Synofzik M, Haack TB, Kopajtich R, Gorza M, Rapaport D, Greiner M, Schonfeld C, Freiberg C, Schorr S, Holl RW, Gonzalez MA, Fritsche A, Fallier-Becker P, Zimmermann R, Strom TM, Meitinger T, Zuchner S, Schule R, Schols L, Prokisch H (2014) Absence of BiP Co-chaperone DNAJC3 Causes Diabetes Mellitus and Multisystemic Neurodegeneration. American journal of human genetics 95:689-697.

 Schlipf NA, Schule R, Klimpe S, Karle KN, Synofzik M, Wolf J, Riess O, Schols L, Bauer P (2014) AP5Z1/SPG48 frequency in autosomal recessive and sporadic spastic paraplegia. Molecular genetics & genomic medicine 2:379-382.

Synofzik M, Zuchner S (1993/2014) PNPLA6-Related Disorders. In: GeneReviews(R) (Pagon RA, Adam MP, Ardinger HH, Bird TD, Dolan CR, Fong CT, Smith RJH, Stephens K, eds). Seattle (WA). Seattle (WA): University of Washington, Seattle; 1993-2014. Available from: http://www.ncbi.nlm.nih.gov/books/NBK247161/.

Synofzik M, Vosgerau G, Voss M (2014) L' esperienza dell' agentivita: un intergioco fra predizione e retrodizione. Sistemi Intelligenti, Anno XXVI, numero 1, aprile 2014:39-56.

Brendel B, Synofzik M, Ackermann H, Lindig T, Scholderle T, Schols L, Ziegler W (2015) Comparing speech characteristics in spinocerebellar ataxias type 3 and type 6 with Friedreich ataxia. J Neurol 262:21-26.

 

2014

 

Gentsch A, Synofzik M (2014) Affective coding: the emotional dimension of agency. Frontiers in human neuroscience 8:608.

Bonifert T, Karle KN, Tonagel F, Batra M, Wilhelm C, Theurer Y, Schoenfeld C, Kluba T, Kamenisch Y, Carelli V, Wolf J, Gonzalez MA, Speziani F, Schule R, Zuchner S, Schols L, Wissinger B, Synofzik M (2014) Pure and syndromic optic atrophy explained by deep intronic OPA1 mutations and an intralocus modifier. Brain 137:2164-2177.

van der Zee J, Van Langenhove T, Kovacs GG, Dillen L, Deschamps W, Engelborghs S, Matej R, Vandenbulcke M, Sieben A, Dermaut B, Smets K, Van Damme P, Merlin C, Laureys A, Van Den Broeck M, Mattheijssens M, Peeters K, Benussi L, Binetti G, Ghidoni R, Borroni B, Padovani A, Archetti S, Pastor P, Razquin C, Ortega-Cubero S, Hernandez I, Boada M, Ruiz A, de Mendonca A, Miltenberger-Miltenyi G, do Couto FS, Sorbi S, Nacmias B, Bagnoli S, Graff C, Chiang HH, Thonberg H, Perneczky R, Diehl-Schmid J, Alexopoulos P, Frisoni GB, Bonvicini C, Synofzik M, Maetzler W, Vom Hagen JM, Schols L, Haack TB, Strom TM, Prokisch H, Dols-Icardo O, Clarimon J, Lleo A, Santana I, Almeida MR, Santiago B, Heneka MT, Jessen F, Ramirez A, Sanchez-Valle R, Llado A, Gelpi E, Sarafov S, Tournev I, Jordanova A, Parobkova E, Fabrizi GM, Testi S, Salmon E, Strobel T, Santens P, Robberecht W, De Jonghe P, Martin JJ, Cras P, Vandenberghe R, De Deyn PP, Cruts M, Sleegers K, and Van Broeckhoven C. Rare mutations in SQSTM1 modify susceptibility to frontotemporal lobar degeneration. Acta neuropathologica 2014; 128:397-410.

Synofzik M, Ilg W (2014) Motor Training in Degenerative Spinocerebellar Disease: Ataxia-Specific Improvements by Intensive Physiotherapy and Exergames. BioMed Research International 2014:Article ID 583507.

Synofzik M, Kernstock C, Haack TB, Schols L (2014) Ataxia meets chorioretinal dystrophy and hypogonadism: Boucher-Neuhauser syndrome due to PNPLA6 mutations. J Neurol Neurosurg Psychiatry.

Synofzik M, Schule R, Schulze M, Gburek-Augustat J, Schweizer R, Schirmacher A, Krageloh-Mann I, Gonzalez M, Young P, Zuchner S, Schols L, Bauer P (2014) Phenotype and frequency of STUB1 mutations: next-generation screenings in Caucasian ataxia and spastic paraplegia cohorts. Orphanet journal of rare diseases 9:57.

Maetzler W, Synofzik M (2014) Neurogeriatrie- Eine zukunftsträchtige Disziplin zwischen Neurologie und Geriatrie. Neuro Aktuell 3/2014:20-24.

Synofzik M, Muller Vom Hagen J, Haack TB, Wilhelm C, Lindig T, Beck-Wodl S, Nabuurs SB, van Kuilenburg AB, de Brouwer AP, Schols L (2014) 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. Orphanet Journal of Rare Diseases 9:24.

Mallaret M*, Synofzik M*, Lee J, Sagum CA, Mahajnah M, Sharkia R, Drouot N, Renaud M, Klein FAC, Anheim M, Tranchant C, Mignot C, Mandel J-L, Bedford M, Bauer P, Salih MA, Schüle R, Schöls L, Aldaz M, Koenig M (2014) The tumour suppressor gene WWOX is mutated in autosomal recessive cerebellar ataxia with epilepsy and mental retardation. BRAIN. 137:411-419.

Synofzik M*, Gonzalez MA, Lourenco CM, Coutelier M, Haack TB, Rebelo A, Hannequin D, Strom TM, Prokisch H, Kernstock C, Durr A, Schols L, Lima-Martinez MM, Farooq A, Schule R, Stevanin G, Marques W, Jr., Zuchner S (2014) PNPLA6 mutations cause Boucher-Neuhauser and Gordon Holmes syndromes as part of a broad neurodegenerative spectrum. BRAIN 137:69-77.

Synofzik M, Born C, Rominger A, Lummel N, Schols L, Biskup S, Schule C, Grasshoff U, Klopstock T, Adamczyk C (2014) Targeted high-throughput sequencing identifies a TARDBP mutation as a cause of early-onset FTD without motor neuron disease. Neurobiology of Aging. 35:1212 e1211-1215.

Heni M, Schopfer P, Peter A, Sartorius T, Fritsche A, Synofzik M, Haring HU, Maetzler W, Hennige AM (2014) Evidence for altered transport of insulin across the blood-brain barrier in insulin-resistant humans. Acta diabetologica 51:679-681.

Synofzik M, Martinez-Carrera LA, Lindig T, Schols L, Wirth B (2014) Dominant spinal muscular atrophy due to BICD2: a novel mutation refines the phenotype. J Neurol Neurosurg Psychiatry 85:590-592.

Ilg W, Bastian AJ, Boesch S, Burciu RG, Celnik P, Claassen J, Feil K, Kalla R, Miyai I, Nachbauer W, Schols L, Strupp M, Synofzik M, Teufel J, Timmann D (2014) Consensus paper: management of degenerative cerebellar disorders. Cerebellum 13:248-268.

2013

Krieger M, Roos A, Stendel C, Claeys KG, Sonmez FM, Baudis M, Bauer P, Bornemann A, de Goede C, Dufke A, Finkel RS, Goebel HH, Haussler M, Kingston H, Kirschner J, Medne L, Muschke P, Rivier F, Rudnik-Schoneborn S, Spengler S, Inzana F, Stanzial F, Benedicenti F, Synofzik M, Lia Taratuto A, Pirra L, Tay SK, Topaloglu H, Uyanik G, Wand D, Williams D, Zerres K, Weis J, Senderek J (2013) SIL1 mutations and clinical spectrum in patients with Marinesco-Sjogren syndrome. Brain 136:3634-3644

Synofzik M, Schatton C, Giese M, Wolf J, Schols L, Ilg W (2013) Videogame-based coordinative training can improve advanced, multisystemic early-onset ataxia. Journal of Neurology 260:2656-2658.

Synofzik M (2013) [New indications for deep brain stimulation: ethical criteria for research and therapy]. Der Nervenarzt 84:1175-1182.

 Borchers S, Synofzik M, Kiely E, Himmelbach M (2013) Routine Clinical Testing Underestimates Proprioceptive Deficits in Friedreich's Ataxia. Cerebellum 12:916-922.

Synofzik M, Bernard G, Lindig T, Gburek-Augustat J (2013) Teaching NeuroImages: Hypomyelinating leukodystrophy with hypodontia due to POLR3B: Look into a leukodystrophy's mouth. Neurology 81:e145.

Rattay TW, Schols L, Wilhelm C, Synofzik M (2013) Late adult-onset pure spinal muscular atrophy due to a compound HEXB macro-deletion. Amyotrophic lateral sclerosis & frontotemporal degeneration 14:628-629.

Muller Vom Hagen J, Synofzik M, Schicks J, Krageloh-Mann I, Schols L (2013) Leukodystrophies in idiopathic adult-onset ataxia: frequency and phenotype in 105 patients. Mov Disord 28:2033-2035.

Giordano I, Bogdanow M, Jacobi H, Jahn K, Minnerop M, Schoels L, Synofzik M, Teufel J, Klockgether T (2013) Experience in a short-term trial with 4-aminopyridine in cerebellar ataxia. Journal of Neurology 260:2175-2176.

Borchers S, Müller L, Synofzik M, Himmelbach M (2013) Guidelines and quality measures for the diagnosis of optic ataxia. Frontiers in human neuroscience 7:324.

Synofzik M, Schöls L, Rieß O (2013) Hereditäre Ataxien. Aktuelle Übersicht und diagnostische Strategien Medizinische Genetik:235-248.

Schatton C, Synofzik M, Ilg W (2013) Kinder und Jugendliche mit degenerativer Ataxie profitieren vom videospiel-basierten Koordinationstraining. neuroreha 13:87-92.

Roth MJ, Synofzik M, Lindner A (2013) The Cerebellum Optimizes Perceptual Predictions about External Sensory Events. Curr Biol 23:930-935.

Schicks J, Schols L, van der Knaap MS, Synofzik M (2013) Teaching NeuroImages: MRI guides genetics: leukoencephalopathy with brainstem and spinal cord involvement (LBSL). Neurology 80:e176-177.

Synofzik M, Vosgerau G, Voss M (2013) The experience of agency: an interplay between prediction and postdiction. Front Psychol 4:127.

Synofzik M, Soehn AS, Gburek-Augustat J, Schicks J, Karle KN, Schule R, Haack TB, Schoning M, Biskup S, Rudnik-Schoneborn S, Senderek J, Hoffmann KT, Macleod P, Schwarz J, Bender B, Kruger S, Kreuz F, Bauer P, Schols L (2013) Autosomal recessive spastic ataxia of Charlevoix Saguenay (ARSACS): expanding the genetic, clinical and imaging spectrum. Orphanet journal of rare diseases 8:41.

Schicks J, Muller Vom Hagen J, Bauer P, Beck-Wodl S, Biskup S, Krageloh-Mann I, Schols L, Synofzik M (2013) Niemann-Pick type C is frequent in adult ataxia with cognitive decline and vertical gaze palsy. Neurology 80:1169-1170.

Daoud H, Tetreault M, Gibson W, Guerrero K, Cohen A, Gburek-Augustat J, Synofzik M, Brais B, Stevens CA, Sanchez-Carpintero R, Goizet C, Naidu S, Vanderver A, Bernard G (2013) Mutations in POLR3A and POLR3B are a major cause of hypomyelinating leukodystrophies with or without dental abnormalities and/or hypogonadotropic hypogonadism. J Med Genet 50:194-197.

Brendel B, Ackermann H, Berg D, Lindig T, Scholderle T, Schols L, Synofzik M, Ziegler W (2013) Friedreich ataxia: dysarthria profile and clinical data. Cerebellum 12:475-484.

Wilke C, Synofzik M, Lindner A (2013) Sensorimotor recalibration depends on attribution of sensory prediction errors to internal causes. PloS one 8:e54925.

 

2012

 

Sathe K, Maetzler W, Lang JD, Mounsey RB, Fleckenstein C, Martin HL, Schulte C, Mustafa S, Synofzik M, Vukovic Z, Itohara S, Berg D, Teismann P (2012) S100B is increased in Parkinson's disease and ablation protects against MPTP-induced toxicity through the RAGE and TNF-alpha pathway. Brain : a journal of neurology 135:3336-3347.

Synofzik M, Biskup S, Leyhe T, Reimold M, Fallgatter AJ, Metzger F (2012) Suicide attempt as the presenting symptom of c9orf72 dementia. Am J Psychiatry 169:1211-1213.

van der Zee J, Gijselinck I, Dillen L, Van Langenhove T, Theuns J, Engelborghs S, Philtjens S, Vandenbulcke M, Sleegers K, Sieben A, Baumer V, Maes G, Corsmit E, Borroni B, Padovani A, Archetti S, Perneczky R, Diehl-Schmid J, de Mendonca A, Miltenberger-Miltenyi G, Pereira S, Pimentel J, Nacmias B, Bagnoli S, Sorbi S, Graff C, Chiang HH, Westerlund M, Sanchez-Valle R, Llado A, Gelpi E, Santana I, Almeida MR, Santiago B, Frisoni G, Zanetti O, Bonvicini C, Synofzik M, Maetzler W, Vom Hagen JM, Schols L, Heneka MT, Jessen F, Matej R, Parobkova E, Kovacs GG, Strobel T, Sarafov S, Tournev I, Jordanova A, Danek A, Arzberger T, Fabrizi GM, Testi S, Salmon E, Santens P, Martin JJ, Cras P, Vandenberghe R, De Deyn PP, Cruts M, Van Broeckhoven C (2013) A Pan-European study of the C9orf72 Repeat Associated with FTLD: Geographic Prevalence, Genomic Instability and Intermediate Repeats. Hum Mutat 34(2): 363-373.

Ilg W, Schatton C, Schicks J, Giese MA, Schols L, Synofzik M (2012) Video game-based coordinative training improves ataxia in children with degenerative ataxia. Neurology 79:2056-2060.

 Synofzik M, Schicks J, Wilhelm C, Bornemann A, Schols L (2012) Charcot-Marie-Tooth hereditary neuropathy due to a mitochondrial ATP6 mutation. Eur J Neurol 19:e114-116.

Fischer MD, Synofzik M, Kernstock C, Dietzsch J, Heidlauf R, Schicks J, Srulijes K, Wiethoff S, Menn O, Berg D, Schols L, Schiefer U (2013) Decreased retinal sensitivity and loss of retinal nerve fibers in multiple system atrophy. Graefe's archive for clinical and experimental ophthalmology = Albrecht von Graefes Archiv fur klinische und experimentelle Ophthalmologie 251:235-241.

Synofzik M, Maetzler W, Grehl T, Prudlo J, Vom Hagen JM, Haack T, Rebassoo P, Munz M, Schols L, Biskup S (2012) Screening in ALS and FTD patients reveals 3 novel UBQLN2 mutations outside the PXX domain and a pure FTD phenotype. Neurobiol Aging 33:2949 e2913-2947.

Lemke JR, Riesch E, Scheurenbrand T, Schubach M, Wilhelm C, Steiner I, Hansen J, Courage C, Gallati S, Burki S, Strozzi S, Simonetti BG, Grunt S, Steinlin M, Alber M, Wolff M, Klopstock T, Prott EC, Lorenz R, Spaich C, Rona S, Lakshminarasimhan M, Kroll J, Dorn T, Kramer G, Synofzik M, Becker F, Weber YG, Lerche H, Bohm D, Biskup S (2012) Targeted next generation sequencing as a diagnostic tool in epileptic disorders. Epilepsia 53:1387-1398.

Synofzik M, Ronchi D, Keskin I, Basak AN, Wilhelm C, Gobbi C, Birve A, Biskup S, Zecca C, Fernandez-Santiago R, Kaugesaar T, Schols L, Marklund SL, Andersen PM (2012) Mutant superoxide dismutase-1 indistinguishable from wild-type causes ALS. Hum Mol Genet 21:3568-3574.

Synofzik M, Schicks J, Srulijes K, Schulte C, Schiele F, Berg D, Schols L (2012) POLG and PEO1 (Twinkle) mutations are infrequent in PSP-like atypical parkinsonism: a preliminary screening study. J Neurol 259:2232-2233.

Synofzik M, Srulijes K, Godau J, Berg D, Schols L (2012) Characterizing POLG ataxia: clinics, electrophysiology and imaging. Cerebellum 11:1002-1011.

Synofzik M, Vosgerau G (2012) Beyond the comparator model. Conscious Cogn 21:1-3.

Synofzik M, Hagen JM, Biskup S, Schols L (2012) D90A-SOD1 ALS mimicking monoclonal gammopathy-associated ALS. Amyotroph Lateral Scler 13:326-327.

Jamour M, Becker C, Synofzik M, Maetzler W (2012) Gangveränderungen als Frühindikator einer Demenz. [Gait changes as an early indicator of dementia] Z Gerontol Geriatr 45:40-44.

Synofzik M, Fins JJ, Schlaepfer TE (2012) A neuromodulation experience registry for deep brain stimulation studies in psychiatric research: rationale and recommendations for implementation. Brain Stimul 5:653-655.

Vosgerau G, Synofzik M (2012) Weighting models and weighting factors. Conscious and Cognition 21:55–58.

Synofzik M, Schlaepfer TE, Fins JJ (2012) How happy is too happy? Euphoria, Neuroethics and Deep Brain Stimulation of the Nucleus Accumbens. AJOB Neuroscience 2:37-39.

Schmid SP, Schleicher ED, Cegan A, Deuschle C, Baur S, Hauser AK, Synofzik M, Srulijes K, Brockmann K, Berg D, Maetzler W (2012) Cerebrospinal fluid fatty acids in glucocerebrosidase-associated Parkinson's disease. Mov Disord 27:288-292.

 

2011

 

Schicks J, Synofzik M, Beetz C, Schiele F, Schols L (2011) Mutations in the PDYN gene (SCA23) are not a frequent cause of dominant ataxia in Central Europe. Clin Genet 80:503-504.

Synofzik M, Schicks J, Lindig T, Biskup S, Schmidt T, Hansel J, Lehmann-Horn F, Schols L (2011) Acetazolamide-responsive exercise-induced episodic ataxia associated with a novel homozygous DARS2 mutation. J Med Genet 48:713-715.

Wilke C*, Synofzik M*, Lindner A (2012) The valence of action outcomes modulates the perception of one's actions. Conscious Cogn 21:18-29.

Schlipf NA, Schule R, Klimpe S, Karle KN, Synofzik M, Schicks J, Riess O, Schols L, Bauer P (2011) Amplicon-based high-throughput pooled sequencing identifies mutations in CYP7B1 and SPG7 in sporadic spastic paraplegia patients. Clin Genet 80:148-160.

Synofzik M*, Godau J*, Lindig T, Schols L, Berg D (2011) Transcranial sonography reveals cerebellar, nigral, and forebrain abnormalities in Friedreich's ataxia. Neurodegener Dis 8:470-475.

Blaschka F, Synofzik M, Schols L, Rau I, Gal A, Mussig K (2011) [Rare differential diagnosis of primary adrenal insufficiency - Case 6/2011.]. Dtsch Med Wochenschr 136:1316.

Maetzler W, Berg D, Synofzik M, Brockmann K, Godau J, Melms A, Gasser T, Hornig S, Langkamp M (2011) Autoantibodies Against Amyloid and Glial-Derived Antigens are Increased in Serum and Cerebrospinal Fluid of Lewy Body-Associated Dementias. J Alzheimers Dis 26:171-179.

Synofzik M*, Beetz C*, Bauer C, Bonin M, Sanchez-Ferrero E, Schmitz-Hubsch T, Wullner U, Nagele T, Riess O, Schols L, Bauer P (2011) Spinocerebellar ataxia type 15: diagnostic assessment, frequency, and phenotypic features. J Med Genet 48:407-412.

Fischer MD, Synofzik M, Heidlauf R, Schicks J, Srulijes K, Kernstock C, Berg D, Schols L, Schiefer U (2011) Retinal nerve fiber layer loss in multiple system atrophy. Mov Disord 26:914-916.

Schicks J*, Synofzik M*, Petursson H, Huttenlocher J, Reimold M, Schols L, Bauer P (2011) Atypical juvenile parkinsonism in a consanguineous SPG15 family. Mov Disord 26:565-566.

Synofzik M*, Godau J*, Lindig T, Schols L, Berg D (2011) Restless Legs and Substantia Nigra Hypoechogenicity are Common Features in Friedreich's Ataxia. Cerebellum 10:9-13.

Synofzik M, Schlaepfer TE (2011) Electrodes in the brain-Ethical criteria for research and treatment with deep brain stimulation for neuropsychiatric disorders. Brain Stimul 4:7-16.

 

2010

 

Schicks J*, Synofzik M*, Schulte C, Schols L (2010) POLG, but not PEO1, is a frequent cause of cerebellar ataxia in Central Europe. Mov Disord 25:2678-2682.

Bauer P, Stevanin G, Beetz C, Synofzik M, Schmitz-Hubsch T, Wullner U, Berthier E, Ollagnon-Roman E, Riess O, Forlani S, Mundwiller E, Durr A, Schols L, Brice A (2010) Spinocerebellar ataxia type 11 (SCA11) is an uncommon cause of dominant ataxia among French and German kindreds. J Neurol Neurosurg Psychiatry 81:1229-1232.

Synofzik M, Weiss D, Erharhaghen J, Kruger R, Schols L (2010) Severe orthostatic dysregulation associated with Wolfram syndrome. J Neurol 257:1751-1753.

Synofzik M, Schule R, Schulte C, Kruger R, Lindig T, Schols L, Asmus F (2010) Complex hyperkinetic movement disorders associated with POLG mutations. Mov Disord 25:2472-2475.

Synofzik M, Marckmann G (2010) Sondernährung. Die Bedeutung evaluativer Vorstellungen eines guten Lebens für die Entscheidungsfindung. Zeitschrift für Ethik in der Medizin 56:143-157.

Ilg W, Brotz D, Burkard S, Giese MA, Schols L, Synofzik M (2010) Long-term effects of coordinative training in degenerative cerebellar disease. Mov Disord 25:2239-2246.

Vosgerau G, Synofzik M (2010) A cognitive theory of thoughts. American Philosophical Quarterly 47:205-222.

Ilg W, Synofzik M, Brötz D, Giese M, Burkard S, Schöls L (2010) Ataxie-Patienten profitieren von Physiotherapie. ÄP NeurologiePsychiatrie 4:10-12.

Synofzik M, Fernandez-Santiago R, Maetzler W, Schols L, Andersen PM (2010) The human G93A SOD1 phenotype closely resembles sporadic amyotrophic lateral sclerosis. J Neurol Neurosurg Psychiatry 81:764-767.

Synofzik M, Asmus F, Reimold M, Schols L, Berg D (2010) Sustained dopaminergic response of parkinsonism and depression in POLG-associated parkinsonism. Mov Disord 25:243-245.

Maetzler W, Schmid B, Synofzik M, Schulte C, Riester K, Huber H, Brockmann K, Gasser T, Berg D, Melms A (2010) The CST3 BB genotype and low cystatin C cerebrospinal fluid levels are associated with dementia in Lewy body disease. J Alzheimers Dis 19:937-942.

Synofzik M, Thier P, Leube DT, Schlotterbeck P, Lindner A (2010) Misattributions of agency in schizophrenia are based on imprecise predictions about the sensory consequences of one's actions. Brain 133:262-271.

 

2009

 

Ilg W, Synofzik M, Brotz D, Burkard S, Giese MA, Schols L (2009) Intensive coordinative training improves motor performance in degenerative cerebellar disease. Neurology 73:1823-1830.

Anheim M, Monga B, Fleury M, Charles P, Barbot C, Salih M, Delaunoy JP, Fritsch M, Arning L, Synofzik M, Schols L, Sequeiros J, Goizet C, Marelli C, Le Ber I, Koht J, Gazulla J, De Bleecker J, Mukhtar M, Drouot N, Ali-Pacha L, Benhassine T, Chbicheb M, M'Zahem A, Hamri A, Chabrol B, Pouget J, Murphy R, Watanabe M, Coutinho P, Tazir M, Durr A, Brice A, Tranchant C, Koenig M (2009) Ataxia with oculomotor apraxia type 2: clinical, biological and genotype/phenotype correlation study of a cohort of 90 patients. Brain 132:2688-2698.

Synofzik M, Vosgerau G, Lindner A (2009) Me or not me--an optimal integration of agency cues? Conscious Cogn 18:1065-1068.

Schulte C*, Synofzik M*, Gasser T, Schols L (2009) Ataxia with ophthalmoplegia or sensory neuropathy is frequently caused by POLG mutations. Neurology 73:898-900.

Schüle R, Schlipf N, Synofzik M, Klebe S, Klimpe S, Hehr U, Winner B, Lindig T, Dotzer A, Riess O, Winkler J, Schöls L, Bauer P (2009) Frequency and phenotype of SPG11 and SPG15 in complicated hereditary spastic paraplegia. J Neurol Neurosurg Psychiatry 80:1402-1404.

Synofzik M, Vosgerau G, Newen A (2009) Reply to Carruthers. Conscious Cogn 18:521-523.

Synofzik M (2009) Ethically justified, clinically applicable criteria for physician decision-making in psychopharmacological enhancement. Neuroethics 2:89-102.

Synofzik M, Bauer P, Schols L (2009) Prion mutation D178N with highly variable disease onset and phenotype. J Neurol Neurosurg Psychiatry 80:345-346.

 

2008

 

Synofzik M, Schlaepfer TE (2008) Stimulating personality: ethical criteria for deep brain stimulation in psychiatric patients and for enhancement purposes. Biotechnol J 3:1511-1520.

Synofzik M (2008) PEG bei Demenz: sinnvoll oder ethisch fragwürdig? CME Premiumfortbildung für die medizinische Praxis. im Druck.

Linnemann C, Synofzik M, Schöls L (2008) Friedreich's ataxia. Drugs of the Future 33 (7):607-614.

Synofzik M*, Lindner A*, Thier P (2008) The Cerebellum Updates Predictions about the Visual Consequences of One's Behavior. Current Biology 18:814-818.

Synofzik M, Vosgerau G, Newen A (2008) I move, therefore I am: a new theoretical framework to investigate agency and ownership. Conscious Cogn 17:411-424.

Strech D, Synofzik M, Marckmann G (2008) Systematic reviews of empirical bioethics. J Med Ethics 34:472-477.

Strech D, Synofzik M, Marckmann G (2008) How Physicians Allocate Scarce Resources at the Bedside: A Systematic Review of Qualitative Studies. Journal of Medicine and Philosophy 33:80-99.

Synofzik, M., Schöls, L. (2008) Jenseits von Mendel. Die neue ethische Problematik in der prädiktiven neurogenetischen Diagnostik. Nervenheilkunde 27: 85-89.

 

2007

 

Synofzik, M., Maetzler, W. (2007) Wie sollen wir Patienten mit Demenz behandeln? Die ethisch problematische Funktion von Antidementiva. Ethik in der Medizin 19(4):270-280.

Synofzik, M., Marckmann, G. (2007) Perkutane endoskopische Gastrostomie: Ernährung bis zuletzt? Deutsches Ärzteblatt 104:A 3390-3393.

Synofzik M (2007) Eingriffe in die Grundlagen der Persönlichkeit: Eine praxisorientierte ethische Analyse von Neuropharmaka und Tiefhirnstimulation. Deutsche Medizinische Wochenschrift 132(50):2711-2713.

Synofzik M (2007) Was passiert in dem Gehirn meines Patienten? Neuroimaging und Neurogenetik als neue ethische Herausforderungen in der Medizin. Deutsche Medizinische Wochenschrift 132(49):2646-2649.

Brötz, D., Burkard, S., Schöls, L., Synofzik, M., Ilg, W. (2007) Physiotherapiekonzept bei cerebellärer Ataxie: Koordination im Mittelpunkt. Physiopraxis (11-12):23-36.

Synofzik, M. (2007) Gravierende Probleme. PEG-Ernährung bei Demenz. Altenpflege 32:29-32.

Synofzik, M., Maetzler, W. (2007) Ethischer Fallkommentar "Behandlungsfehler in der Medizin". Zeitschrift für Medizinische Ethik 53(4):288-293.

Synofzik M, Vosgerau G, Newen A (2008) Beyond the comparator model: a multifactorial two-step account of agency. Conscious Cogn 17:219-239.

Synofzik, M. (2007). PEG-Ernährung bei fortgeschrittener Demenz: eine evidenzgestützte ethische Analyse. Nervenarzt 78(4): 418-428.

 

2006

 

Synofzik, M. (2006). Wirksam, indiziert - und dennoch ohne Nutzen? Die Ziele der medikamentösen Demenz-Behandlung und das Wohlergehen des Patienten. Z Gerontol Geriatr, 39(4), 301-307.

Synofzik, M., Thier, P., & Lindner, A. (2006). Internalizing Agency of Self-Action: Perception of One's Own Hand Movements Depends on an Adaptable Prediction About the Sensory Action Outcome. J Neurophysiol, 96(3), 1592-1601.

Synofzik, M. (2006). Kognition a la carte? Der Wunsch nach kognitionsverbessernden Psychopharmaka in der Medizin. Zeitschrift für Ethik in der Medizin, 18(1), 37-50.

Synofzik, M., Wiesing, U. (2006) Eine Frage der Haltung: Die Geist-Gehirn-Frage und ihre Transformation. Zeitschrift für Medizinische Ethik 52:27-44.

 

2005

 

Töpfer, F., Huber, L., Synofzik, M. (2006) Ein neues Menschenbild? Bemerkung zum "Manifest elf führender Neurowissenschaftler". Zeitschrift für Medizinische Ethik 52:70-78.

Synofzik, M. (2005) Interventionen zwischen Gehirn und Geist: Eine ethische Analyse der neuen Möglichkeiten der Neurowissenschaften. Fortschritte der Neurologie Psychiatrie 73:596-604.

Synofzik, M. (2005). Die neuen Möglichkeiten der Neurowissenschaften und ihre ethischen Implikationen: Eine Kriteriologie der Neuroethik. Ethik in der Medizin 17:206-219.

Synofzik, M., Marckmann, G. (2005) Persistent Vegetative State: Verhungern lassen oder sterben dürfen? Deutsches Ärzteblatt 102:A 2079-2082.

Will, B. & Synofzik, M. (2005). Assessing Quality of Life in Patients with Lumbar Sciatica. Virtual Mentor Ethics Journal of the AMA 7 (2); IF: none

 

2004

 

Synofzik, M., Huber, L. & Wiesing, U. (2004). Philosophieren über die Rätsel des Gehirns. Eine Übersicht zur Neurophilosophie. Nervenarzt 75, 1147-1152.

Alle Ambulanzen auf einen Blick:

  

Ataxie-Ambulanz 

 

In der Ataxie-Ambulanz werden Patienten mit degenerativen Erkrankungen des Kleinhirns (cerebelläre Ataxie) und seiner zuführenden Bahnen (afferente Ataxie) untersucht. Ziel ist es, unseren Patienten eine genaue Diagnose und nach Möglichkeit auch eine individualisierte Behandlung zukommen zu lassen. 


Sprechstunden, Ansprechpartner und weitere Informationen finden Sie auf der Seite der Ataxie-Ambulanz des Universitätsklinikums Tübingen.  

Ambulanz für frontotemporale Demenz und andere frühbeginnende Demenzen 

 

In der FTD/EOD-Ambulanz werden Patienten mit Frontotemporaler Demenz (FTD) und anderen frühbeginnenden Demenzen (Demenz < 65. Lebensjahr = early onset dementia, EOD) untersucht. Ziel ist es, unseren Patienten eine genaue Diagnose und eine individualisierte Beratung und Behandlung zukommen zu lassen. 

Sprechstunden, Ansprechpartner und weitere Informationen auf finden Sie auf der Seite der Ambulanz für frontotemporale Demenz und andere frühbeginnende Demenzen des Universitätsklinikums Tübingen. 

ALS-Ambulanz 

 

In der ALS-Ambulanz werden Patienten mit Amyotropher Lateralsklerose (ALS) und anderen degenerativen Motorneuronerkrankungen untersucht. Ziel ist es, unseren Patienten eine genaue Diagnose und eine individualisierte Beratung und Behandlung zukommen zu lassen. 

Sprechstunden, Ansprechpartner und weitere Informationen auf finden Sie auf der Seite der ALS-Ambulanz des Universitätsklinikums Tübingen. 

Forschungsgruppenleitung
PD Dr. Matthis Synofzik matthis.synofzik(at)uni-tuebingen.de Anschrift

Zentrum für Neurologie

Hertie-Institut für klinische Hirnforschung

Abteilung Neurologie mit Schwerpunkt neurodegenerative Erkrankungen

Hoppe-Seyler-Straße 3
72076 Tübingen

Tel.: +49 (0)7071 29-82060