Search Results - "Schoels, L."

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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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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Responsiveness of different rating instruments in spinocerebellar ataxia patients by SCHMITZ-HÜBSCH, T, FIMMERS, R, FILLA, A, SALVATORE, E, INFANTE, J, GIUNTI, P, LABRUM, R, KREMER, B, VAN DE WARRENBURG, B. P. C, BALIKO, L, MELEGH, B, DEPONDT, C, RAKOWICZ, M, SCHULZ, J, DU MONTCEL, S. Tezenas, KLOCKGETHER, T, ROLA, R, ZDZIENICKA, E, FANCELLU, R, MARIOTTI, C, LINNEMANN, C, SCHÖLS, L, TIMMANN, D

“…To determine the longitudinal metric properties of recently developed clinical assessment tools in spinocerebellar ataxia (SCA). A subset of 171 patients from…”
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Paroxysmal choreoathetosis/spasticity (DYT9) is caused by a GLUT1 defect by WEBER, Y. G, KAMM, C, LUDOLPH, A. C, VAN PAESSCHEN, W, SCHÖLS, L, DE JONGHE, P, AUBURGER, G, LERCHE, H, SULS, A, KEMPFLE, J, KOTSCHET, K, SCHÜLE, R, WUTTKE, T. V, MALJEVIC, S, LIEBRICH, J, GASSER, T

“…Mutations in SLC2A1, encoding the glucose transporter type 1 (GLUT1), cause a broad spectrum of neurologic disorders including classic GLUT1 deficiency…”
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Quantitative Assessment of Brain Stem and Cerebellar Atrophy in Spinocerebellar Ataxia Types 3 and 6: Impact on Clinical Status by EICHLER, L, BELLENBERG, B, HAHN, H. K, KÖSTER, O, SCHÖLS, L, LUKAS, C

“…Cerebellar and brain stem atrophy are important features in SCA3, whereas SCA6 has been regarded as a "pure" cerebellar disease. However, recent…”
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Experience in a short-term trial with 4-Aminopyridine in cerebellar ataxia by Giordano, I., Bogdanow, M., Jacobi, H., Jahn, K., Minnerop, M., Schoels, L., Synofzik, M., Teufel, J., Klockgether, T.

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High frequency of partial SPAST deletions in autosomal dominant hereditary spastic paraplegia by BEETZ, C, NYGREN, A. O. H, OTTO, S, SCHÜLE, R, SCHÖLS, L, SPERFELD, A.-D, WITTE, O. W, DEUFEL, T, SCHICKEL, J, AUER-GRUMBACH, M, BÜRK, K, HEIDE, G, KASSUBEK, J, KLIMPE, S, KLOPSTOCK, T, KREUZ, F

“…Hereditary spastic paraplegia (HSP) is a genetically heterogeneous neurodegenerative disease. The most frequent cause of autosomal dominant HSP is mutation of…”
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Dominant Optic Atrophy plus phenotype caused by a deep intronic mutation and a modifier variant in the OPA1 gene by Wissinger, B., Bonifert, T., Gonzalez‐Menendez, I., Theurer, Y., Synofzik, M., Schoels, L.

“…Summary Mutations in OPA1 are a common cause of dominant optic neuropathy (DOA). Recent studies suggest that ~20% of patients carrying OPA1 mutations have…”
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EFNS guidelines on the molecular diagnosis of neurogenetic disorders: general issues, Huntington's disease, Parkinson's disease and dystonias by Harbo, H. F., Finsterer, J., Baets, J., Van Broeckhoven, C., Di Donato, S., Fontaine, B., De Jonghe, P., Lossos, A., Lynch, T., Mariotti, C., Schöls, L., Spinazzola, A., Szolnoki, Z., Tabrizi, S. J., Tallaksen, C., Zeviani, M., Burgunder, J.-M., Gasser, T.

“…Background and purpose:  These EFNS guidelines on the molecular diagnosis of neurogenetic disorders are designed to provide practical help for the general…”
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Valsalva manoeuvre in patients with different Parkinsonian disorders by Schmidt, C., Herting, B., Prieur, S., Junghanns, S., Schweitzer, K., Globas, C., Schöls, L., Reichmann, H., Berg, D., Ziemssen, Tjalf

“…The valsalva manoeuvre (VM), used as an autonomic function test, can detect sympathetic and/or parasympathetic autonomic dysfunction. This study investigated…”
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Baroreflex sensitivity and power spectral analysis in different extrapyramidal syndromes by Friedrich, C., Rüdiger, H., Schmidt, C., Herting, B., Prieur, S., Junghanns, S., Schweitzer, K., Globas, C., Schöls, L., Berg, D., Reichmann, H., Ziemssen, T.

“…Cardiac autonomic abnormalities have been described in Parkinson’s disease and other extrapyramidal syndromes. To investigate baroreflex sensitivity as an…”
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SPG10 is a rare cause of spastic paraplegia in European families by Schüle, R, Kremer, B P H, Kassubek, J, Auer-Grumbach, M, Kostic, V, Klopstock, T, Klimpe, S, Otto, S, Boesch, S, van de Warrenburg, B P, Schöls, L

“…Background:SPG10 is an autosomal dominant form of hereditary spastic paraplegia (HSP), which is caused by mutations in the neural kinesin heavy chain KIF5A…”
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Spinocerebellar ataxia type 6 (SCA6): neurodegeneration goes beyond the known brain predilection sites by Gierga, K., Schelhaas, H. J., Brunt, E. R., Seidel, K., Scherzed, W., Egensperger, R., De Vos, R. A. I., Den Dunnen, W., Ippel, P. F., Petrasch-Parwez, E., Deller, T., Schöls, L., Rüb, U.

“…Aims: Spinocerebellar ataxia type 6 (SCA6) is a late onset autosomal dominantly inherited ataxic disorder, which belongs to the group of CAG repeat, or…”
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Degeneration of ingestion-related brainstem nuclei in spinocerebellar ataxia type 2, 3, 6 and 7 by Rüb, U., Brunt, E. R., Petrasch-Parwez, E., Schöls, L., Theegarten, D., Auburger, G., Seidel, K., Schultz, C., Gierga, K., Paulson, H., Van Broeckhoven, C., Deller, T., De Vos, R. A. I.

“…Dysphagia, which can lead to nutritional deficiencies, weight loss and dehydration, represents a risk factor for aspiration pneumonia. Although clinical…”
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Autosomal dominant spastic paraplegia with peripheral neuropathy maps to chr12q23-24 by SCHÜLE, R, BONIN, M, SCHÖLS, L, DÜRR, A, FORLANI, S, SPERFELD, A. D, KLIMPE, S, MUELLER, J. C, SEIBEL, A, VAN DE WARRENBURG, B. P, BAUER, P

“…Hereditary spastic paraplegias (HSP) are genetically exceedingly heterogeneous. To date, 37 genetic loci for HSP have been described (SPG1-41), among them 16…”
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Involvement of the auditory brainstem system in spinocerebellar ataxia type 2 (SCA2), type 3 (SCA3) and type 7 (SCA7) by Hoche, F., Seidel, K., Brunt, E. R., Auburger, G., Schöls, L., Bürk, K., De Vos, R. A., Den Dunnen, W., Bechmann, I., Egensperger, R., Van Broeckhoven, C., Gierga, K., Deller, T., Rüb, U.

“…Aims: The spinocerebellar ataxia type 2 (SCA2), type 3 (SCA3) and type 7 (SCA7) are clinically characterized by progressive and severe ataxic symptoms,…”
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EFNS guidelines on the molecular diagnosis of channelopathies, epilepsies, migraine, stroke, and dementias by Burgunder, J-M., Finsterer, J., Szolnoki, Z., Fontaine, B., Baets, J., Van Broeckhoven, C., Di Donato, S., De Jonghe, P., Lynch, T., Mariotti, C., Schöls, L., Spinazzola, A., Tabrizi, S. J., Tallaksen, C., Zeviani, M., Harbo, H. F., Gasser, T.

“…Objectives:  These EFNS guidelines on the molecular diagnosis of channelopathies, including epilepsy and migraine, as well as stroke, and dementia are designed…”
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P1.19 Semi-quantitative questionnaire of autonomic symptoms in patients with extrapyramidal syndromes in relation to autonomic testing by Reimann, M, Schmidt, C, Herting, B, Prieur, S, Junghanns, S, Schweitzer, K, Schoels, L, Reichmann, H, Berg, D, Ziemssen, T

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P1.18 Frequent nocturnal blood pressure dysregulation in various extrapyramidal syndromes by Reimann, M, Schmidt, C, Herting, B, Prieur, S, Junghanns, S, Schweitzer, K, Schoels, L, Reichmann, H, Berg, D, Ziemssen, T

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Regular insulin secretory oscillations despite impaired ATP synthesis in Friedreich Ataxia patients by Meyer, C, Carlqvist, H, Vorgerd, M, Schöls, L, Ostenson, C-G, Ristow, M

“…Friedreich Ataxia is an inherited disorder caused by decreased expression of a mitochondrial protein called frataxin. Deficiency of this protein causes reduced…”
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