Consensus Paper: Management of Degenerative Cerebellar Disorders
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.
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Jacobi, H., Rakowicz, M., Rola, R., Fancellu, R., Mariotti, C., Charles, P., Dürr, A., Küper, M., Timmann, D., Linnemann, C., Schöls, L., Kaut, O., Schaub, C., Filla, A., Baliko, L., Melegh, B., Kang, J.-S., Giunti, P., van de Warrenburg, B. P. C., Fimmers, R., Klockgether, T.
Published in Cerebellum (London, England) (01.06.2013)
Published in Cerebellum (London, England) (01.06.2013)
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Oxidative stress in patients with Friedreich ataxia
Schulz, J B, Dehmer, T, Schöls, L, Mende, H, Hardt, C, Vorgerd, M, Bürk, K, Matson, W, Dichgans, J, Beal, M F, Bogdanov, M B
Published in Neurology (12.12.2000)
Published in Neurology (12.12.2000)
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Spinocerebellar ataxia type 1 (SCA1): new pathoanatomical and clinico-pathological insights
Rüb, U., Bürk, K., Timmann, D., den Dunnen, W., Seidel, K., Farrag, K., Brunt, E., Heinsen, H., Egensperger, R., Bornemann, A., Schwarzacher, S., Korf, H.-W., Schöls, L., Bohl, J., Deller, T.
Published in Neuropathology and applied neurobiology (01.12.2012)
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Frequency and phenotype of SPG11 and SPG15 in complicated hereditary spastic paraplegia
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
Published in Journal of neurology, neurosurgery and psychiatry (01.12.2009)
Published in Journal of neurology, neurosurgery and psychiatry (01.12.2009)
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Rare mutations in SQSTM1 modify susceptibility to frontotemporal lobar degeneration
van der Zee, Julie, Van Langenhove, Tim, Kovacs, Gabor G., Dillen, Lubina, Deschamps, William, Engelborghs, Sebastiaan, Matěj, Radoslav, Vandenbulcke, Mathieu, Sieben, Anne, Dermaut, Bart, Smets, Katrien, Van Damme, Philip, Merlin, Céline, Laureys, Annelies, Van Den Broeck, Marleen, Mattheijssens, Maria, Peeters, Karin, Benussi, Luisa, Binetti, Giuliano, Ghidoni, Roberta, Borroni, Barbara, Padovani, Alessandro, Archetti, Silvana, Pastor, Pau, Razquin, Cristina, Ortega-Cubero, Sara, Hernández, Isabel, Boada, Mercè, Ruiz, Agustín, de Mendonça, Alexandre, Miltenberger-Miltényi, Gabriel, do Couto, Frederico Simões, Sorbi, Sandro, Nacmias, Benedetta, Bagnoli, Silvia, Graff, Caroline, Chiang, Huei-Hsin, Thonberg, Håkan, Perneczky, Robert, Diehl-Schmid, Janine, Alexopoulos, Panagiotis, Frisoni, Giovanni B., Bonvicini, Christian, Synofzik, Matthis, Maetzler, Walter, vom Hagen, Jennifer Müller, Schöls, Ludger, Haack, Tobias B., Strom, Tim M., Prokisch, Holger, Dols-Icardo, Oriol, Clarimón, Jordi, Lleó, Alberto, Santana, Isabel, Almeida, Maria Rosário, Santiago, Beatriz, Heneka, Michael T., Jessen, Frank, Ramirez, Alfredo, Sanchez-Valle, Raquel, Llado, Albert, Gelpi, Ellen, Sarafov, Stayko, Tournev, Ivailo, Jordanova, Albena, Parobkova, Eva, Fabrizi, Gian Maria, Testi, Silvia, Salmon, Eric, Ströbel, Thomas, Santens, Patrick, Robberecht, Wim, De Jonghe, Peter, Martin, Jean-Jacques, Cras, Patrick, Vandenberghe, Rik, De Deyn, Peter Paul, Cruts, Marc, Sleegers, Kristel, Van Broeckhoven, Christine
Published in Acta neuropathologica (01.09.2014)
Published in Acta neuropathologica (01.09.2014)
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Antisense oligonucleotide therapy for splicing defects in OPA1‐related dominant optic atrophy
Wissinger, B., Synofzik, M., Schöls, L., Bonifert, T.
Published in Acta ophthalmologica (Oxford, England) (01.09.2017)
Published in Acta ophthalmologica (Oxford, England) (01.09.2017)
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Amplicon-based high-throughput pooled sequencing identifies mutations in CYP7B1 and SPG7 in sporadic spastic paraplegia patients
Schlipf, NA, Schüle, R, Klimpe, S, Karle, KN, Synofzik, M, Schicks, J, Riess, O, Schöls, L, Bauer, P
Published in Clinical genetics (01.08.2011)
Published in Clinical genetics (01.08.2011)
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Leukodystrophies underlying cryptic spastic paraparesis: frequency and phenotype in 76 patients
Müller vom Hagen, J., Karle, K. N., Schüle, R., Krägeloh-Mann, I., Schöls, L.
Published in European journal of neurology (01.07.2014)
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EFNS guidelines on the molecular diagnosis of ataxias and spastic paraplegias
Gasser, T., 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.M.E., Zeviani, M., Burgunder, J-M., Harbo, H. F.
Published in European journal of neurology (01.02.2010)
Published in European journal of neurology (01.02.2010)
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The aetiology of sporadic adult-onset ataxia
ABELE, M, BÜRK, K, SCHÖLS, L, SCHWARTZ, S, BESENTHAL, I, DICHGANS, J, ZÜHLKE, C, RIESS, O, KLOCKGETHER, T
Published in Brain (London, England : 1878) (01.05.2002)
Published in Brain (London, England : 1878) (01.05.2002)
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Disease severity affects quality of life of hereditary spastic paraplegia patients
Klimpe, S., Schüle, R., Kassubek, J., Otto, S., Kohl, Z., Klebe, S., Klopstock, T., Ratzka, S., Karle, K., Schöls, L.
Published in European journal of neurology (01.01.2012)
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Ala30Pro mutation in the gene encoding alpha-synuclein in Parkinson's disease
Krüger, R, Kuhn, W, Müller, T, Woitalla, D, Graeber, M, Kösel, S, Przuntek, H, Epplen, J T, Schöls, L, Riess, O
Published in Nature genetics (01.02.1998)
Published in Nature genetics (01.02.1998)
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Prion mutation D178N with highly variable disease onset and phenotype
Synofzik, M, Bauer, P, Schöls, L
Published in Journal of neurology, neurosurgery and psychiatry (01.03.2009)
Published in Journal of neurology, neurosurgery and psychiatry (01.03.2009)
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EFNS guidelines for the molecular diagnosis of neurogenetic disorders: motoneuron, peripheral nerve and muscle disorders
Burgunder, J.-M., Schöls, L., Baets, J., Andersen, P., Gasser, T., Szolnoki, Z., Fontaine, B., Van Broeckhoven, C., Di Donato, S., De Jonghe, P., Lynch, T., Mariotti, C., Spinazzola, A., Tabrizi, S. J., Tallaksen, C., Zeviani, M., Harbo, H. F., Finsterer, J.
Published in European journal of neurology (01.02.2011)
Published in European journal of neurology (01.02.2011)
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The Effects of COMT (Val108/158Met) and DRD4 (SNP −521) Dopamine Genotypes on Brain Activations Related to Valence and Magnitude of Rewards
Camara, Estela, Krämer, Ulrike M., Cunillera, Toni, Marco-Pallarés, Josep, Cucurell, David, Nager, Wido, Mestres-Missé, Anna, Bauer, Peter, Schüle, Rebecca, Schöls, Ludger, Tempelmann, Claus, Rodriguez-Fornells, Antoni, Münte, Thomas F.
Published in Cerebral cortex (New York, N.Y. 1991) (01.08.2010)
Published in Cerebral cortex (New York, N.Y. 1991) (01.08.2010)
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Familial parkinsonism with synuclein pathology: clinical and PET studies of A30P mutation carriers
Krüger, R, Kuhn, W, Leenders, K L, Sprengelmeyer, R, Müller, T, Woitalla, D, Portman, A T, Maguire, R P, Veenma, L, Schröder, U, Schöls, L, Epplen, J T, Riess, O, Przuntek, H
Published in Neurology (22.05.2001)
Published in Neurology (22.05.2001)
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Mutations in the PDYN gene (SCA23) are not a frequent cause of dominant ataxia in Central Europe
Schicks, J, Synofzik, M, Beetz, C, Schiele, F, Schöls, L
Published in Clinical genetics (01.11.2011)
Published in Clinical genetics (01.11.2011)
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Friedreich's ataxia: Revision of the phenotype according to molecular genetics
SCHÖLS, L, AMOIRIDIS, G, PRZUNTEK, H, FRANK, G, EPPLEN, J. T, EPPLEN, C
Published in Brain (London, England : 1878) (01.12.1997)
Published in Brain (London, England : 1878) (01.12.1997)
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