Genomes and Genes
- Synofzik M, Harmuth F, Stampfer M, MÃ¼ller vom Hagen J, SchÃ¶ls L, Bauer P. NPC1 is enriched in unexplained early onset ataxia: a targeted high-throughput screening. J Neurol. 2015;262:2557-63 pubmed publisher..This method does not require having considered NP-C during differential diagnosis, but allows identification of NP-C as part of the default analysis. ..
- Synofzik M, Helbig K, Harmuth F, Deconinck T, Tanpaiboon P, Sun B, et al. De novo ITPR1 variants are a recurrent cause of early-onset ataxia, acting via loss of channel function. Eur J Hum Genet. 2018;26:1623-1634 pubmed publisher..Functional studies allow identifying ITPR1 variants with large impact, likely disease-causing. Such functional confirmation is warranted for inherited ITPR1 variants before making a SCA29 diagnosis. ..
- Synofzik M, Maetzler W. [Successful aging: what can neurology and geriatrics contribute?]. Nervenarzt. 2015;86:475-80 pubmed publisher..Or, in a nutshell, geriatrics starts right in the middle of medical care. ..
- Wilke C, Gillardon F, Deuschle C, Dubois E, Hobert M, MÃ¼ller vom Hagen J, et al. Serum Levels of Progranulin Do Not Reflect Cerebrospinal Fluid Levels in Neurodegenerative Disease. Curr Alzheimer Res. 2016;13:654-62 pubmed..Blood progranulin levels thus do not reliably predict central nervous progranulin levels and their response to future progranulin-increasing therapeutics. ..
- Synofzik M, Fleszar Z, Schols L, Just J, Bauer P, Torres Martin J, et al. Identifying Niemann-Pick type C in early-onset ataxia: two quick clinical screening tools. J Neurol. 2016;263:1911-8 pubmed publisher..While the original SI showed the greatest sensitivity, both tools reliably aided identification of patients with unexplained EOA who warranted further investigation for NP-C. ..
- Kraus E, Rommel N, Stoll L, Oettinger A, Vogel A, Synofzik M. Validation and Psychometric Properties of the German Version of the SWAL-QOL. Dysphagia. 2018;33:431-440 pubmed publisher..69]) and test-retest reliability (Spearman's rho ≥ 0.68 for all domains; ICC > 0.8 for all domains). The G-SWAL-QOL is a valid and reliable measuring tool for dysphagia-specific quality of life in German-speaking persons. ..
- Synofzik M, Smets K, Mallaret M, Di Bella D, Gallenmüller C, Baets J, et al. SYNE1 ataxia is a common recessive ataxia with major non-cerebellar features: a large multi-centre study. Brain. 2016;139:1378-93 pubmed publisher..The disease course in this multisystemic neurodegenerative disease can be fatal, including premature death due to respiratory dysfunction. With a relative frequency of ∼5%, SYNE1 is one of the more common recessive ataxias worldwide. ..
- Synofzik M, Maetzler W, Grehl T, Prudlo J, vom Hagen J, Haack T, et al. Screening in ALS and FTD patients reveals 3 novel UBQLN2 mutations outside the PXX domain and a pure FTD phenotype. Neurobiol Aging. 2012;33:2949.e13-7 pubmed publisher..Because the pathogenic mechanism of UBQLN2 mutations is not limited to its PXX region, UBQLN2 screening in neurodegenerative patients should not be limited to this region. ..
- Synofzik M, Vosgerau G, Lindner A. Me or not me--an optimal integration of agency cues?. Conscious Cogn. 2009;18:1065-8 pubmed publisher..We here argue that this framework could allow integrating the findings of Moore and colleagues and other recent agency studies into a comprehensive picture of the sense of agency and its pathological disruptions. ..
- Synofzik M, Haack T, Kopajtich R, Gorza M, Rapaport D, Greiner M, et al. Absence of BiP co-chaperone DNAJC3 causes diabetes mellitus and multisystemic neurodegeneration. Am J Hum Genet. 2014;95:689-97 pubmed publisher..This complements findings from mice in which knockout of Dnajc3 leads to diabetes and modifies disease in a neurodegenerative model of Marinesco-SjÃ¶gren syndrome. ..
- Synofzik M, Müller Vom Hagen J, Haack T, Wilhelm C, Lindig T, Beck Wödl S, et al. 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 J Rare Dis. 2014;9:24 pubmed publisher..Finally, our findings show that brain atrophy might be more common in PRPS1-disorders than previously thought. ..
- Synofzik M, Fernández Santiago R, Maetzler W, Schols L, Andersen P. The human G93A SOD1 phenotype closely resembles sporadic amyotrophic lateral sclerosis. J Neurol Neurosurg Psychiatry. 2010;81:764-7 pubmed publisher..This pedigree shows a highly homogenous phenotype which closely resembles the typical phenotype of sporadic ALS, thus implicating comparable disease pathology of G93A SOD1 ALS and sporadic ALS. ..
- Synofzik M, Vosgerau G, Newen A. Beyond the comparator model: a multifactorial two-step account of agency. Conscious Cogn. 2008;17:219-39 pubmed..Our framework, however, is able to provide a unified account for the sense of agency for both actions and thoughts. ..