Search Results - "SYNOFZIK, M"

Systemic inflammation relates to neuroaxonal damage associated with long-term cognitive dysfunction in COVID-19 patients by Duindam, H.B., Mengel, D., Kox, M., Göpfert, J.C., Kessels, R.P.C., Synofzik, M., Pickkers, P., Abdo, W.F.

“…•Long-term cognitive impairments are common in patients that suffered from severe COVID-19.•In critically ill COVID-19 patients, NfL increases significantly…”
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Intensive coordinative training improves motor performance in degenerative cerebellar disease by ILG, W, SYNOFZIK, M, BRÖTZ, D, BURKARD, S, GIESE, M. A, SCHÖLS, L

“…The cerebellum is known to play a strong functional role in both motor control and motor learning. Hence, the benefit of physiotherapeutic training remains…”
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New indications for deep brain stimulation: ethical criteria for research and therapy by Synofzik, M

“…The applications of deep brain stimulation (DBS) are rapidly increasing and now include a large variety of neurological and psychiatric diseases, such as…”
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Corrigendum to “Systemic inflammation relates to neuroaxonal damage associated with long-term cognitive dysfunction in COVID-19 patients” [Brain Behav. Immun. 117 (2024) 510–520] by Duindam, H.B., Mengel, D., Kox, M., Göpfert, J.C., Kessels, R.P.C., Synofzik, M., Pickkers, P., Abdo, W.F.

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CHIP mutations affect the heat shock response differently in human fibroblasts and iPSC-derived neurons by Schuster, S, Heuten, E, Velic, A, Admard, J, Synofzik, M, Ossowski, S, Macek, B, Hauser, S, Schöls, L

“…C-terminus of HSC70-interacting protein (CHIP) encoded by the gene is a co-chaperone and E3 ligase that acts as a key regulator of cellular protein…”
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Consensus Paper: Management of Degenerative Cerebellar Disorders by Ilg, W., Bastian, A. J., Boesch, S., Burciu, R. G., Celnik, P., Claaßen, J., Feil, K., Kalla, R., Miyai, I., Nachbauer, W., Schöls, L., Strupp, M., Synofzik, M., Teufel, J., Timmann, D.

“…Treatment of motor symptoms of degenerative cerebellar ataxia remains difficult. Yet there are recent developments that are likely to lead to significant…”
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Antisense oligonucleotide therapy for splicing defects in OPA1‐related dominant optic atrophy by Wissinger, B., Synofzik, M., Schöls, L., Bonifert, T.

“…Summary Mutations in OPA1 are the main cause of dominant optic atrophy (DOA) and have also been implicated in a variety of syndromic neuropathies such as…”
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Boucher–Neuhäuser syndrome: cerebellar degeneration, chorioretinal dystrophy and hypogonadotropic hypogonadism: two novel cases and a review of 40 cases from the literature by Tarnutzer, A. A., Gerth-Kahlert, C., Timmann, D., Chang, D. I., Harmuth, F., Bauer, P., Straumann, D., Synofzik, M.

“…The combination of progressive cerebellar degeneration, hypogonadotropic hypogonadism and chorioretinal dystrophy defines the rare Boucher–Neuhäuser syndrome…”
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SARAspeech—Feasibility of automated assessment of ataxic speech disturbance by Grobe-Einsler, M., Faber, J., Taheri, A., Kybelka, J., Raue, J., Volkening, J., Helmhold, F., Synofzik, M., Klockgether, T.

“…Ataxias are a group of movement disorders that are characterized by progressive loss of balance, impaired coordination and speech disturbance, which together…”
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Ataxia with oculomotor apraxia type 2: clinical, biological and genotype/phenotype correlation study of a cohort of 90 patients by Anheim, M., Monga, B., Fleury, M., Charles, P., Barbot, C., Salih, M., Delaunoy, J. P., Fritsch, M., Arning, L., Synofzik, M., Schöls, 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.

“…Ataxia with oculomotor apraxia type 2 (AOA2) is an autosomal recessive disease due to mutations in the senataxin gene, causing progressive cerebellar ataxia…”
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Phenotypic differences of amyotrophic lateral sclerosis (ALS) in China and Germany by Rosenbohm, Angela, Liu, Mingsheng, Nagel, Gabriele, Peter, Raphael S., Cui, Bo, Li, Xiaoguang, Kassubek, Jan, Rothenbacher, Dietrich, Lulé, Dorothée, Cui, Liying, Ludolph, Albert C.

“…Objective The aim of this study is to explore phenotypical differences of amyotrophic lateral sclerosis (ALS) between two cohorts from Germany and China…”
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Slowly progressive LGI1 encephalitis with isolated late-onset cognitive dysfunction: a treatable mimic of Alzheimer's disease by Marquetand, J., van Lessen, M., Bender, B., Reimold, M., Elsen, G., Stoecker, W., Synofzik, M.

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Dominant spinal muscular atrophy due to BICD2: a novel mutation refines the phenotype by Synofzik, Matthis, Martinez-Carrera, Lilian A, Lindig, Tobias, Schöls, Ludger, Wirth, Brunhilde

“…While all variants reported so far for the BICD2 coiled-coil domain 3 (Rab6-binding region) present with SMA as the main phenotype (p.Glu774Gly 2 ;…”
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Frequency and phenotype of SPG11 and SPG15 in complicated hereditary spastic paraplegia by 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

“…Background:Hereditary spastic paraplegias (HSP) are clinically and genetically highly heterogeneous. Recently, two novel genes, SPG11 (spatacsin) and SPG15…”
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Systematic reviews of empirical bioethics by Strech, D, Synofzik, M, Marckmann, G

“…Background:Publications and discussions of survey research in empirical bioethics have steadily increased over the past two decades. However, findings often…”
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PLA2G6 mutations associated with a continuous clinical spectrum from neuroaxonal dystrophy to hereditary spastic paraplegia by Ozes, B., Karagoz, N., Schüle, R., Rebelo, A., Sobrido, M.‐J., Harmuth, F., Synofzik, M., Pascual, S.I.P., Colak, M., Ciftci‐Kavaklioglu, B., Kara, B., Ordóñez‐Ugalde, A., Quintáns, B., Gonzalez, M.A., Soysal, A., Zuchner, S., Battaloglu, E.

“…PLA2G6‐associated neurodegeneration (PLAN) and hereditary spastic paraplegia (HSP) are 2 groups of heterogeneous neurodegenerative diseases. In this study, we…”
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Mitochondrial physiology is compromised by mutations in DNAJC3 and may contribute to the clinical presentation of diabetes and neurodegeneration by Jennings, M, Hathazi, D, Synofzik, M, Roos, A, Horvath, R

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Successful aging: what can neurology and geriatrics contribute? by Synofzik, M, Maetzler, W

“…The relative proportion of elderly persons in Western societies is rapidly growing, leading to an increasing frequency of age-related neurological diseases…”
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Expanding the phenotype of DNAJC3 mutations: A case with hypothyroidism additionally to diabetes mellitus and multisystemic neurodegeneration by Bublitz, S.K., Alhaddad, B., Synofzik, M., Kuhl, V., Lindner, A., Freiberg, C., Schmidt, H., Strom, T.M., Haack, T.B., Deschauer, M.

“…Identification of this additional patient from a distant part of the originally described pedigree (Synofzik et al. 2014) confirms pathogenicity of DNAJC3…”
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A clinical diagnostic algorithm for early onset cerebellar ataxia by Brandsma, R., Verschuuren-Bemelmans, C.C., Amrom, D., Barisic, N., Baxter, P., Bertini, E., Blumkin, L., Brankovic-Sreckovic, V., Brouwer, O.F., Bürk, K., Catsman-Berrevoets, C.E., Craiu, D., de Coo, I.F.M., Gburek, J., Kennedy, C., de Koning, T.J., Kremer, H.P.H., Kumar, R., Macaya, A., Micalizzi, A., Mirabelli-Badenier, M., Nemeth, A., Nuovo, S., Poll-The, B., Lerman-Sagie, T., Steinlin, M., Synofzik, M., Tijssen, M.A.J., Vasco, G., Willemsen, M.A.A.P., Zanni, G., Valente, E.M., Boltshauser, E., Sival, D.A.

“…Early onset cerebellar Ataxia (EOAc) comprises a large group of rare heterogeneous disorders. Determination of the underlying etiology can be difficult given…”
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