Genomik seltener Bewegungsstörungen

Originalarbeiten

2017

Schols L, Rattay TW, Martus P, Meisner C, Baets J, Fischer I, Jägle C, Fraidakis MJ, Martinuzzi A, Saute JA, Scarlato M, Antenora A, Stendel C, Höflinger P, Lourenco C, Abreu L, Smets K, Paucar M, Deconinck T, Bis D, Wiethoff S, Bauer P, Arnoldi A, Marques W, Jr., Jardim LB, Hauser S, Criscuolo C, Filla A, Zuchner S, Bassi M, Klopstock T, de Jonghe P, Bjorkhem I, Schule R. Hereditary spastic paraplegia type 5: natural history, biomarkers and a randomized controlled trial. Brain 2017; epub (06.11.2017).

Schule R. Reply: Complicated hereditary spastic paraplegia due to ATP13A2 mutations: what’s in a name? . Brain 2017; epub (03.11.2017).

Estrada-Cuzcano A, Martin S, Chamova T, Synofzik M, Timmann D, Holemans T, Andreeva A, Reichbauer J, De Rycke R, Chang DI, 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. Loss-of-function mutations in the ATP13A2/PARK9 gene cause complicated hereditary spastic paraplegia (SPG78). Brain 2017; 140(2): 287-305.

Minnerop M, Kurzwelly D, Rattay TW, Timmann D, Hengel H, Synofzik M, Stendel C, Horvath R, Schüle R, Ramirez A. Reply: POLR3A variants in hereditary spastic paraplegia and ataxia. Brain 2017a; in press.

Minnerop M, Kurzwelly D, Wagner H, Soehn AS, Reichbauer J, Tao F, Rattay TW, Peitz M, Rehbach K, Giorgetti A, Pyle A, Thiele H, Altmuller J, Timmann D, Karaca I, Lennarz M, Baets J, Hengel H, Synofzik M, Atasu B, Feely S, Kennerson M, Stendel C, Lindig T, Gonzalez MA, Stirnberg R, Sturm M, Roeske S, Jung J, Bauer P, Lohmann E, Herms S, Heilmann-Heimbach S, Nicholson G, Mahanjah M, Sharkia R, Carloni P, Brustle O, Klopstock T, Mathews KD, Shy ME, de Jonghe P, Chinnery PF, Horvath R, Kohlhase J, Schmitt I, Wolf M, Greschus S, Amunts K, Maier W, Schols L, Nurnberg P, Zuchner S, Klockgether T, Ramirez A, Schule R. Hypomorphic mutations in POLR3A are a frequent cause of sporadic and recessive spastic ataxia. Brain 2017b; 140(6): 1561-78.

Synofzik M, Schule R. Overcoming the divide between ataxias and spastic paraplegias: Shared phenotypes, genes, and pathways. Mov Disord 2017.

Bis DM, Schule R, Reichbauer J, Synofzik M, Rattay TW, Soehn A, de Jonghe P, Schols L, Zuchner S. Uniparental disomy determined by whole-exome sequencing in a spectrum of rare motoneuron diseases and ataxias. Molecular genetics & genomic medicine 2017; 5(3): 280-6.

Hayer SN, Deconinck T, Bender B, Smets K, Zuchner S, Reich S, Schols L, Schule R, De Jonghe P, Baets J, Synofzik M. STUB1/CHIP mutations cause Gordon Holmes syndrome as part of a widespread multisystemic neurodegeneration: evidence from four novel mutations. Orphanet J Rare Dis 2017; 12(1): 31.

Hengel H, Magee A, Mahanjah M, Vallat JM, Ouvrier R, Abu-Rashid M, Mahamid J, Schule R, Schulze M, Krageloh-Mann I, Bauer P, Zuchner S, Sharkia R, Schols L. CNTNAP1 mutations cause CNS hypomyelination and neuropathy with or without arthrogryposis. Neurol Genet 2017; 3(2): e144.

Ozes B, Karagoz N, Schule R, Rebelo A, Sobrido MJ, Harmuth F, Synofzik M, Pascual SIP, Colak M, Ciftci-Kavaklioglu B, Kara B, Ordonez-Ugalde A, Quintans B, Gonzalez MA, Soysal A, Zuchner S, Battaloglu E. PLA2G6 mutations associated with a continuous clinical spectrum from neuroaxonal dystrophy to hereditary spastic paraplegia. Clin Genet 2017; 92(5): 534-9.

Roeben B, Schule R, Ruf S, Bender B, Alhaddad B, Benkert T, Meitinger T, Reich S, Bohringer J, Langhans CD, Vaz FM, Wortmann-Hagemann SB, Marquardt T, Haack TB, Krageloh-Mann I, Schols L, Synofzik M. SERAC1 deficiency causes complicated HSP: evidence from a novel splice mutation in a large family. J Med Genet 2017.

Schule R, Schols L. [Ataxias and hereditary spastic paraplegias]. Nervenarzt 2017; 88(7): 720-7.

2016

Hauser S, Hoflinger P, Theurer Y, Rattay TW, Bjorkhem I, Schule R, Schols L. Stem cell-based disease modeling of hereditary spastic paraplegia type 5. Human gene therapy 2016b; 27(11): A76-A7.

Hayer SN, Smets K, Bender B, Deconinck T, Zuchner S, Schols L, Schule R, De Jonghe P, Baets J, Synofzik M. STUB1/CHIP mutations cause Gordon Holmes syndrome as part of widespread multisystemic neurodegeneration: Evidence from novel mutations. Movement Disord 2016; 31: S340-S.

Rattay TW, Sohn AS, Karle KN, Wiethoff S, Reichbauer J, Dobler-Neumann M, Krageloh-Mann I, Munchau A, Wilken B, Bauer P, Schols L, Schule R. Bristle hair may point to hereditary spastic paraplegia type SPG35/FAHN. Movement Disord 2016; 31: S227-S.

Rieber N, Gazendam RP, Freeman AF, Hsu AP, Collar AL, Sugui JA, Drummond RA, Rongkavilit C, Hoffman K, Henderson C, Clark L, Mezger M, Swamydas M, Engeholm M, Schule R, Neumayer B, Ebel F, Mikelis CM, Pittaluga S, Prasad VK, Singh A, Milner JD, Williams KW, Lim JK, Kwon-Chung KJ, Holland SM, Hartl D, Kuijpers TW, Lionakis MS. Extrapulmonary Aspergillus infection in patients with CARD9 deficiency. JCI Insight 2016; 1(17): e89890.

Schule R, Wiethoff S, Martus P, Karle KN, Otto S, Klebe S, Klimpe S, Gallenmuller C, Kurzwelly D, Henkel D, Rimmele F, Stolze H, Kohl Z, Kassubek J, Klockgether T, Vielhaber S, Kamm C, Klopstock T, Bauer P, Zuchner S, Liepelt-Scarfone I, Schols L. Hereditary spastic paraplegia: Clinicogenetic lessons from 608 patients. Ann Neurol 2016a; 79(4): 646-58.

Schule R, Wiethoff S, Schols L. Reply. Ann Neurol 2016b; 80(1): 170-1.

Schule R, Zuchner S. Overview of Genetic Causesof Spasticity in Adults and Children. In: Brashear A, Elovic E, editors. Spasticity : diagnosis and management. Second edition. ed. New York: Demos; 2016. p. p.

Schüle R., S. Wiethoff, P. Martus, K.N. Karle, S. Otto, S. Klebe, S. Klimpe, C. Gallenmüller, D. Kurzwelly, D. Henkel, F. Rimmele, H. Stolze, Z. Kohl, J. Kassubek, T. Klockgether, S. Vielhaber, C. Kamm, T. Klopstock, P. Bauer, S. Züchner, I. Liepelt-Scarfone, L. Schöls, Hereditary spastic paraplegia: Clinicogenetic lessons from 608 patients. Ann Neurol, 2016. 79(4), 646-58

Synofzik M., K. Smets, M. Mallaret, D. Di Bella, C. Gallenmüller, J. Baets, M. Schulze, S. Magri, E. Sarto, M. Mustafa, T. Deconinck, T. Haack, S. Züchner, M. Gonzalez, D. Timmann, C. Stendel, T. Klopstock, A. Durr, C. Tranchant, M. Sturm, W. Hamza, L. Nanetti, C. Mariotti, M. Koenig, L. Schöls, R. Schüle, P. de Jonghe, M. Anheim, F. Taroni, P. Bauer. SYNE1 ataxia is a common recessive ataxia with major non-cerebellar features: a large scale multi-centre study. Brain, 2016. 139(Pt 5), 1378-1393

Soehn, A.S., T.W. Rattay, S. Beck-Wodl, K. Schaferhoff, D. Monk, M. Dobler-Neumann, K. Hortnagel, A. Schluter, M. Ruiz, A. Pujol, S. Zuchner, O. Riess, R. Schüle, P. Bauer, and L. Schöls, Uniparental disomy of chromosome 16 unmasks recessive mutations of FA2H/SPG35 in 4 families. Neurology, 2016. 87(2), 186-91

Rieber, N., R.P. Gazendam, A.F. Freeman, A.P. Hsu, A.L. Collar, J.A. Sugui, R.A. Drummond, C. Rongkavilit, K. Hoffman, C. Henderson, L. Clark, M. Mezger, M. Swamydas, M. Engeholm, R. Schüle, B. Neumayer, F. Ebel, C.M. Mikelis, S. Pittaluga, V.K. Prasad, A. Singh, J.D. Milner, K.W. Williams, J.K. Lim, K.J. Kwon-Chung, S.M. Holland, D. Hartl, T.W. Kuijpers, and M.S. Lionakis, Extrapulmonary Aspergillus infection in patients with CARD9 deficiency. JCI Insight, 2016. 1(17), e89890

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

Kariminejad, A., L. Schöls, R. Schüle, S.H. Tonekaboni, A. Abolhassani, M. Fadaee, R.O. Rosti, and J.G. Gleeson, CYP2U1 mutations in two Iranian patients with activity induced dystonia, motor regression and spastic paraplegia. Eur J Paediatr Neurol, 2016. 20(5), 782-7

Höflinger, P., Y. Theurer, R. Schüle, L. Schöls, and S. Hauser, Generation of induced pluripotent stem cells (iPSCs) from a hereditary spastic paraplegia patient carrying a homozygous R486C mutation in CYP7B1 (SPG5). Stem Cell Research, 2016. 17(2), 422-425

Helbig, K.L., U.B. Hedrich, D.N. Shinde, I. Krey, A.C. Teichmann, J. Hentschel, J. Schubert, A.C. Chamberlin, R. Huether, H.M. Lu, W.A. Alcaraz, S. Tang, C. Jungbluth, S.L. Dugan, L. Vainionpaa, K.N. Karle, M. Synofzik, L. Schöls, R. Schüle, A.E. Lehesjoki, I. Helbig, H. Lerche, and J.R. Lemke, A recurrent mutation in KCNA2 as a novel cause of hereditary spastic paraplegia and ataxia. Ann Neurol, 2016. 80(4)

Hauser, S., M. Erzler, Y. Theurer, S. Schuster, R. Schüle, and L. Schöls, Establishment of SPAST mutant induced pluripotent stem cells (iPSCs) from a hereditary spastic paraplegia (HSP) patient. Stem Cell Res, 2016. 17(3), 485-488

Estrada-Cuzcano, A., M. Shaun, T. Chamova, M. Synofzik, D. Timmann, T. Holemans, A. Andreeva, J. Reichbauer, R. De Rycke, D.I. Chang, S. Van Veen, J. Samuel, L. Schöls, T. Pöppel, D. Mollerup Sorensen, B. Asselbergh, C. Klein, S. Zuchner, A. Jordanova, I. Tournev, P. Vangheluwe, and R. Schüle, Loss-of-function mutations in the ATP13A2/PARK9 gene cause complicated hereditary spastic paraplegia (SPG78). Brain, 2016

2015

Abrams, A.J., R.B. Hufnagel, A. Rebelo, C. Zanna, N. Patel, M.A. Gonzalez, I.J. Campeanu, L.B. Griffin, S. Groenewald, A.V. Strickland, F. Tao, F. Speziani, L. Abreu, R. Schüle, L. Caporali, C. La Morgia, A. Maresca, R. Liguori, R. Lodi, Z.M. Ahmed, K.L. Sund, X. Wang, L.A. Krueger, Y. Peng, C.E. Prada, C.A. Prows, E.K. Schorry, A. Antonellis, H.H. Zimmerman, O.A. Abdul-Rahman, Y. Yang, S.M. Downes, J. Prince, F. Fontanesi, A. Barrientos, A.H. Nemeth, V. Carelli, T. Huang, S. Zuchner, J.E. Dallman, Mutations in SLC25A46, encoding a UGO1-like protein, cause an optic atrophy spectrum disorder. Nature Genetics, 2015. 47(8), 926-32

Coutelier, M., C. Goizet, A. Durr, F. Habarou, S. Morais, A. Dionne-Laporte, F. Tao, J. Konop, M. Stoll, P. Charles, M. Jacoupy, R. Matusiak, I. Alonso, C. Tallaksen, M. Mairey, M. Kennerson, M. Gaussen, R. Schüle, M. Janin, F. Morice-Picard, C. M. Durand, C. Depienne, P. Calvas, P. Coutinho, J.M. Saudubray, G. Rouleau, A. Brice, G. Nicholson, F. Darios, J. L. Loureiro, S. Zuchner, C. Ottolenghi, F. Mochel, G. Stevanin, Alteration of ornithine metabolism leads to dominant and recessive hereditary spastic paraplegia. Brain, 2015. 138(Pt 8), 2191-205

Gonzalez, M.A., M.J. Falk, X. Gai, R. Postrel, R. Schüle*, S. Zuchner* (* equally ontributed) Innovative Genomic Collaboration Using the GENESIS (GEM.app) Platform, Human Mutation, 2015. 36(10), 950-6

Lindig, T., B. Bender, T.K. Hauser, S. Mang, D. Schweikhardt, U. Klose, K.N. Karle, R. Schüle, L. Schöls, T.W. Rattay, Gray and white matter alterations in hereditary spastic paraplegia type SPG4 and clinical correlations. Journal of Neurology, 2015. 262(8), 1961-71

Rieber, N., A. Singh, H. Oz, M. Carevic, M. Bouzani, J. Amich, M. Ost, Z. Ye, M. Ballbach, I. Schafer, M. Mezger, S. N. Klimosch, A. N. Weber, R. Handgretinger, S. Krappmann, J. Liese, M. Engeholm, R. Schüle, H. R. Salih, L. Marodi, C. Speckmann, B. Grimbacher, J. Ruland, G. D. Brown, A. Beilhack, J. Loeffler, D. Hartl, Pathogenic fungi regulate immunity by inducing neutrophilic myeloidderived suppressor cells. Cell Host & Microbe, 2015. 17(4), 507-14

Rossor, A.M., E.C. Oates, H. K. Salter, Y. Liu, S. M. Murphy, R. Schüle, M.A. Gonzales, M. Scoto, R. Phadke, C. A. Sewry, H. Houlden, A. Jordanova, I. Tournev, T. Chamova, I. Litvinenko, S. Zuchner, D. N. Herrmann, J. Blake, J. E. Sowden, G. Acsadi, M. L. Rodriguez, M. P. Menezes, N.F. Clarke, M. Auer Grumbach, S.L. Bullock, F. Muntoni, M.M. Reilly, K.N. North, Reply: The p.Ser107Leu in BICD2 is a mutation 'hot spot' causing distal spinal muscular atrophy. Brain, 2015. 138(Pt 11), e392

Smets, K., A. Duarri, T. Deconinck, B. Ceulemans, B. P. van de Warrenburg, S. Zuchner, M. A. Gonzalez, R. Schüle, M. Synofzik, N. Van der Aa, P. De Jonghe, D. S. Verbeek, J. Baets, 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, 2015. 16(1), 51

Strickland, A.V., M. Schabhuttl, H. Offenbacher, M. Synofzik, N. S. Hauser, M. Brunner-Krainz, U. Gruber-Sedlmayr, S.A. Moore, R. Windhager, B. Bender, M. Harms, S. Klebe, P. Young, M. Kennerson, A.S. Garcia, M.A. Gonzalez, S. Zuchner, R. Schüle, M.E. Shy, M. Auer-Grumbach, Mutation screen reveals novel variants and expands the phenotypes associated with DYNC1H1. Journal of Neurology, 2015. 262(9), 2124-34

Sultana, S., J. Reichbauer, R. Schüle, F. Mochel, M. Synofzik, A.C. van der Spoel, Lack of enzyme activity in GBA2 mutants associated with hereditary spastic paraplegia/cerebellar ataxia (SPG46). Biochemical and Biophysical Research Communications 2015. 465(1), 35-40

Thal, D.R., S. Zuchner, S. Gierer, C. Schulte, L. Schöls, R. Schüle*, M. Synofzik* (* equally contributed), Abnormal Paraplegin Expression in Swollen Neurites, tau- and alpha- Synuclein Pathology in a Case of Hereditary Spastic Paraplegia SPG7 with an Ala510Val Mutation. Int J Mol Sci, 16(10), 2015. 25050-66

Jahic A., M. Khundadze, N. Jaenisch, R. Schüle, S. Klimpe, S. Klebe, C. Frahm, J. Kassubek, G. Stevanin, L. Schöls, A. Brice, C.A. Hübner, C. Beetz, The spectrum of KIAA0196 variants, and characterization of a murine knockout: implications for the mutational mechanism in hereditary spastic paraplegia type SPG8. Orphanet J Rare Dis, 2015. 10, 147

Schmidt W.M.*, S.L. Rutledge*, R. Schüle*, B. Mayerhofer, S. Züchner, E. Boltshauser, R.E. Bittner (*equally contibuted), Disruptive SCYL1 Mutations Underlie a Syndrome Characterized by Recurrent Episodes of Liver Failure, Peripheral Neuropathy, Cerebellar Atrophy, and Ataxia. Am J Hum Genet 2015. 97(6), 855-61

Syrbe, S., U.B.S. Hedrich, E. Riesch, T. Djémié, S. Müller, R.S. Moller, B. Maher, L. Hernandez-Hernandez, M. Synofzik, A. Caglayan, M. Arslan, J.M. Serratosa, M. Nothnagel, P. May, R. Krause, H. Löffler, K. Detert, T. Dorn, H. Vogt, G. Krämer, L. Schöls, P.E. Mullis, T. Linnankivi, A.E. Lehesjoki, K. Sterbova, D.C. Craiu, D. Hoffmann-Zacharska, C.M. Korff, Y.G. Weber, M. Steinlin, S. Gallati, A. Bertsche, M.K. Bernhard, A. Merkenschlager, W. Kiess, E.R. Consortium, M.A. Gonzalez, S. Züchner, A. Palotie, A. Suls, P. de Jonghe, I. Helbig, S. Biskup, M. Wolff, S. Maljevic, R. Schüle, S.M. Sisodiya, S. Weckhuysen, H. Lerche, and J.R. Lemke, De novo loss- or gain-of-function mutations in KCNA2 cause epileptic encephalopathy. Nat Genet, 2015. 47(4): p. 393-9.

Rossor, A.M., E.C. Oates, H.K. Salter, Y. Liu, S.M. Murphy, R. Schule, M.A. Gonzalez, M. Scoto, R. Phadke, C.A. Sewry, H. Houlden, A. Jordanova, I. Tournev, T. Chamova, I. Litvinenko, S. Zuchner, D.N. Herrmann, J. Blake, J.E. Sowden, G. Acsadi, M.L. Rodriguez, M.P. Menezes, N.F. Clarke, M. Auer Grumbach, S.L. Bullock, F. Muntoni, M.M. Reilly, and K.N. North, Phenotypic and molecular insights into spinal muscular atrophy due to mutations in BICD2. Brain, 2015. 138(Pt 2): p. 293-310.

Rieber, N., A. Singh, H. Öz, M. Carevic, M. Bouzani, J. Amich, M. Ost, Z. Ye, M. Ballbach, I. Schäfer, M. Mezger, Sascha N. Klimosch, Alexander N.R. Weber, R. Handgretinger, S. Krappmann, J. Liese, M. Engeholm, R. Schüle, Helmut R. Salih, L. Marodi, C. Speckmann, B. Grimbacher, J. Ruland, Gordon D. Brown, A. Beilhack, J. Loeffler, and D. Hartl, Pathogenic Fungi Regulate Immunity by Inducing Neutrophilic Myeloid-Derived Suppressor Cells. Cell Host & Microbe, 2015.

2014

Schlipf, N. A., R. Schüle, S. Klimpe, K.N. Karle, M. Synofzik, J. Wolf, O. Ries, L. Schöls, P. Bauer, AP5Z1/SPG48 frequency in autosomal recessive and sporadic spastic paraplegia. Molecular Genetics & Genomic Medicine, 2014. 2(5), 379-82

Theofilopoulos, S., W.J. Griffiths, P.J. Crick, S. Yang, A. Meljon, M. Ogundare, S.S. Kitambi, A. Lockhart, K. Tuschl, P.T. Clayton, A.A. Morris, A. Martinez, M.A. Reddy, A. Martinuzzi, M.T. Bassi, A. Honda, T. Mizuochi, A. Kimura, H. Nittono, G. De Michele, R. Carbone, C. Criscuolo, J.L. Yau, J.R. Seckl, R. Schule, L. Schols, A.W. Sailer, J. Kuhle, M.J. Fraidakis, J.A. Gustafsson, K.R. Steffensen, I. Bjorkhem, P. Ernfors, J. Sjovall, E. Arenas, and Y. Wang, Cholestenoic acids regulate motor neuron survival via liver X receptors. J Clin Invest, 2014.

Synofzik, M., R. Schule, M. Schulze, J. Gburek-Augustat, R. Schweizer, A. Schirmacher, I. Krageloh-Mann, M. Gonzalez, P. Young, S. Zuchner, L. Schols, and P. Bauer, Phenotype and frequency of STUB1 mutations: next-generation screenings in Caucasian ataxia and spastic paraplegia cohorts. Orphanet J Rare Dis, 2014. 9(1): p. 57.

Synofzik, M., Tobias B. Haack, R. Kopajtich, M. Gorza, D. Rapaport, M. Greiner, C. Schönfeld, C. Freiberg, S. Schorr, Reinhard W. Holl, Michael A. Gonzalez, A. Fritsche, P. Fallier-Becker, R. Zimmermann, Tim M. Strom, T. Meitinger, S. Züchner, R. Schüle, L. Schöls, and H. Prokisch, Absence of BiP Co-chaperone DNAJC3 Causes Diabetes Mellitus and Multisystemic Neurodegeneration. The American Journal of Human Genetics, 2014.

Synofzik, M., M.A. Gonzalez, C.M. Lourenco, M. Coutelier, T.B. Haack, A. Rebelo, D. Hannequin, T.M. Strom, H. Prokisch, C. Kernstock, A. Durr, L. Schols, M.M. Lima-Martinez, A. Farooq, R. Schule, G. Stevanin, W. Marques, Jr., and S. Zuchner, PNPLA6 mutations cause Boucher-Neuhauser and Gordon Holmes syndromes as part of a broad neurodegenerative spectrum. Brain, 2014. 137(Pt 1): p. 69-77.

Muller Vom Hagen, J., K.N. Karle, R. Schule, I. Krageloh-Mann, and L. Schols, Leukodystrophies underlying cryptic spastic paraparesis: frequency and phenotype in 76 patients. Eur J Neurol, 2014.

Mallaret, M., M. Synofzik, J. Lee, C.A. Sagum, M. Mahajnah, R. Sharkia, N. Drouot, M. Renaud, F.A. Klein, M. Anheim, C. Tranchant, C. Mignot, J.L. Mandel, M. Bedford, P. Bauer, M.A. Salih, R. Schule, L. Schols, C.M. Aldaz, and M. Koenig, The tumour suppressor gene WWOX is mutated in autosomal recessive cerebellar ataxia with epilepsy and mental retardation. Brain, 2014. 137(Pt 2): p. 411-9.

Caballero Oteyza, A., E. Battaloglu, L. Ocek, T. Lindig, J. Reichbauer, A.P. Rebelo, M.A. Gonzalez, Y. Zorlu, B. Ozes, D. Timmann, B. Bender, G. Woehlke, S. Zuchner, L. Schols, and R. Schule, Motor protein mutations cause a new form of hereditary spastic paraplegia. Neurology, 2014.

Bonifert, T., K.N. Karle, F. Tonagel, M. Batra, C. Wilhelm, Y. Theurer, C. Schoenfeld, T. Kluba, Y. Kamenisch, V. Carelli, J. Wolf, M.A. Gonzalez, F. Speziani, R. Schule, S. Zuchner, L. Schols, B. Wissinger, and M. Synofzik, Pure and syndromic optic atrophy explained by deep intronic OPA1 mutations and an intralocus modifier. Brain, 2014. 137(Pt 8): p. 2164-77.

2013

Gonzalez, M., R. Acosta Lebrigio, D.J. Van Booven, R.H. Ulloa, E. Powell, F. Speziani, M. Tekin, R. Schüle, and S. Zuchner, Genomes Management Application (GEM.app): A new web tool for largescale collaborative genome analysis. Human Mutation, 2013. 34(6):842-6

Varga, R.E., R. Schule, H. Fadel, I. Valenzuela, F. Speziani, M. Gonzalez, G. Rudenskaia, G. Nurnberg, H. Thiele, J. Altmuller, V. Alvarez, J. Gamez, J.Y. Garbern, P. Nurnberg, S. Zuchner, and C. Beetz, Do not trust the pedigree: reduced and sex-dependent penetrance at a novel mutation hotspot in ATL1 blurs autosomal dominant inheritance of spastic paraplegia. Hum Mutat, 2013. 34(6): p. 860-3.

Synofzik, M., A.S. Soehn, J. Gburek-Augustat, J. Schicks, K.N. Karle, R. Schule, T.B. Haack, M. Schoning, S. Biskup, S. Rudnik-Schoneborn, J. Senderek, K.T. Hoffmann, P. MacLeod, J. Schwarz, B. Bender, S. Kruger, F. Kreuz, P. Bauer, and L. Schols, Autosomal recessive spastic ataxia of Charlevoix Saguenay (ARSACS): expanding the genetic, clinical and imaging spectrum. Orphanet J Rare Dis, 2013. 8: p. 41.

Oates, E.C., A.M. Rossor, M. Hafezparast, M. Gonzalez, F. Speziani, D.G. MacArthur, M. Lek, E. Cottenie, M. Scoto, A.R. Foley, M. Hurles, H. Houlden, L. Greensmith, M. Auer-Grumbach, T.R. Pieber, T.M. Strom, R. Schule, D.N. Herrmann, J.E. Sowden, G. Acsadi, M.P. Menezes, N.F. Clarke, S. Zuchner, Uk10K, F. Muntoni, K.N. North, and M.M. Reilly, Mutations in BICD2 cause dominant congenital spinal muscular atrophy and hereditary spastic paraplegia. Am J Hum Genet, 2013. 92(6): p. 965-73.

Karle, K.N., R. Schule, S. Klebe, S. Otto, C. Frischholz, I. Liepelt-Scarfone, and L. Schols, Electrophysiological characterisation of motor and sensory tracts in patients with hereditary spastic paraplegia (HSP). Orphanet J Rare Dis, 2013. 8: p. 158.

Karle, K.N., S. Biskup, R. Schule, K.J. Schweitzer, R. Kruger, P. Bauer, B. Bender, T. Nagele, and L. Schols, De novo mutations in hereditary diffuse leukoencephalopathy with axonal spheroids (HDLS). Neurology, 2013. 81(23): p. 2039-44.

Gonzalez, M.A., R.F. Lebrigio, D. Van Booven, R.H. Ulloa, E. Powell, F. Speziani, M. Tekin, R. Schule, and S. Zuchner, GEnomes Management Application (GEM.app): a new software tool for large-scale collaborative genome analysis. Hum Mutat, 2013. 34(6): p. 842-6.

Boukhris, A.*, R. Schule*, J.L. Loureiro, C.M. Lourenco, E. Mundwiller, M.A. Gonzalez, P. Charles, J. Gauthier, I. Rekik, R.F. Acosta Lebrigio, M. Gaussen, F. Speziani, A. Ferbert, I. Feki, A. Caballero-Oteyza, A. Dionne-Laporte, M. Amri, A. Noreau, S. Forlani, V.T. Cruz, F. Mochel, P. Coutinho, P. Dion, C. Mhiri, L. Schols, J. Pouget, F. Darios, G.A. Rouleau, W. Marques, Jr., A. Brice, A. Durr, S. Zuchner, and G. Stevanin, Alteration of ganglioside biosynthesis responsible for complex hereditary spastic paraplegia. Am J Hum Genet, 2013. 93(1): p. 118-23.

Acimovic, J., A. Lovgren-Sandblom, M. Olin, Z. Ali, M. Heverin, R. Schule, L. Schols, B. Fischler, P. Fickert, M. Trauner, and I. Bjorkhem, Sulphatation does not appear to be a protective mechanism to prevent oxysterol accumulation in humans and mice. PLoS One, 2013. 8(7): p. e68031.

Martin, E.*, R. Schule*, K. Smets*, A. Rastetter, A. Boukhris, J.L. Loureiro, M.A. Gonzalez, E. Mundwiller, T. Deconinck, M. Wessner, L. Jornea, A.C. Oteyza, A. Durr, J.J. Martin, L. Schols, C. Mhiri, F. Lamari, S. Zuchner, P. De Jonghe, E. Kabashi, A. Brice, and G. Stevanin, Loss of Function of Glucocerebrosidase GBA2 Is Responsible for Motor Neuron Defects in Hereditary Spastic Paraplegia. Am J Hum Genet, 2013.

Gonzalez, M., S. Nampoothiri, C. Kornblum, A. Caballero Oteyza, J. Walter, I. Konidari, W. Hulme, F. Speziani, L. Schols, S. Zuchner, and R. Schule, Mutations in Phospholipase DDHD2 cause Autosomal Recessive Hereditary Spastic Paraplegia (SPG54). Eur J Hum Genet, 2013. 21(11): p. 1214-8.

2012

Montenegro, G., A.P. Rebelo, J. Connell, R. Allison, C. Babalini, M. D'Aloia, P. Montieri, R. Schüle, H. Ishiura, J. Price, A. Strickland, M.A. Gonzalez, L. Baumbach-Reardon, T. Deconinck, J. Huang, G. Bernardi, J.M. Vance, M.T. Rogers, S. Tsuji, P. De Jonghe, M.A. Pericak-Vance, L. Schöls, A. Orlacchio, E. Reid, and S. Zuchner, Mutations in the ER-shaping protein reticulon 2 cause the axondegenerative disorder hereditary spastic paraplegia type 12. Journal of Clinical Investigation,2012. 122(2), 538-44 2012

Tesson, C., M. Nawara, M.A. Salih, R. Rossignol, M.S. Zaki, M. Al Balwi, R. Schule, C. Mignot, E. Obre, A. Bouhouche, F.M. Santorelli, C.M. Durand, A.C. Oteyza, K.H. El-Hachimi, A. Al Drees, N. Bouslam, F. Lamari, S.A. Elmalik, M.M. Kabiraj, M.Z. Seidahmed, T. Esteves, M. Gaussen, M.L. Monin, G. Gyapay, D. Lechner, M. Gonzalez, C. Depienne, F. Mochel, J. Lavie, L. Schols, D. Lacombe, M. Yahyaoui, I. Al Abdulkareem, S. Zuchner, A. Yamashita, A. Benomar, C. Goizet, A. Durr, J.G. Gleeson, F. Darios, A. Brice, and G. Stevanin, Alteration of Fatty-Acid-metabolizing enzymes affects mitochondrial form and function in hereditary spastic paraplegia. Am J Hum Genet, 2012. 91(6): p. 1051-64.

Montenegro, G., A.P. Rebelo, J. Connell, R. Allison, C. Babalini, M. D'Aloia, P. Montieri, R. Schule, H. Ishiura, J. Price, A. Strickland, M.A. Gonzalez, L. Baumbach-Reardon, T. Deconinck, J. Huang, G. Bernardi, J.M. Vance, M.T. Rogers, S. Tsuji, P. De Jonghe, M.A. Pericak-Vance, L. Schols, A. Orlacchio, E. Reid, and S. Zuchner, Mutations in the ER-shaping protein reticulon 2 cause the axon-degenerative disorder hereditary spastic paraplegia type 12. J Clin Invest, 2012. 122(2): p. 538-44.

Kuper, M.A., R. Schule, P. Mayer, A. Konigsrainer, and S. Beckert, Factor XIII Val34Leu polymorphism is associated with increased factor XIII activation and decreased transcutaneous oxygen readings in patients with diabetic foot ulcers. Diabetic medicine : a journal of the British Diabetic Association, 2012.

Klimpe, S., R. Schule, J. Kassubek, S. Otto, Z. Kohl, S. Klebe, T. Klopstock, S. Ratzka, K. Karle, and L. Schols, Disease severity affects quality of life of hereditary spastic paraplegia patients. Eur J Neurol, 2012. 19(1): p. 168-71.

Fuger, P., V. Sreekumar, R. Schule, J.V. Kern, D.T. Stanchev, C.D. Schneider, K.N. Karle, K.J. Daub, V.K. Siegert, M. Flotenmeyer, H. Schwarz, L. Schols, and T.M. Rasse, Spastic Paraplegia Mutation N256S in the Neuronal Microtubule Motor KIF5A Disrupts Axonal Transport in a Drosophila HSP Model. PLoS Genet, 2012. 8(11): p. e1003066.

Dufke, C., N. Schlipf, R. Schule, M. Bonin, M. Auer-Grumbach, G. Stevanin, C. Depienne, J. Kassubek, S. Klebe, S. Klimpe, T. Klopstock, S. Otto, S. Poths, A. Seibel, H. Stolze, A. Gal, L. Schols, and P. Bauer, A high-throughput resequencing microarray for autosomal dominant spastic paraplegia genes. Neurogenetics, 2012.

2011

Weber, Y.G., C. Kamm, A. Suls, J. Kempfle, K. Kotschet, R. Schule, T.V. Wuttke, S. Maljevic, J. Liebrich, T. Gasser, A.C. Ludolph, W. Van Paesschen, L. Schols, P. De Jonghe, G. Auburger, and H. Lerche, Paroxysmal choreoathetosis/spasticity (DYT9) is caused by a GLUT1 defect. Neurology, 2011. 77(10): p. 959-64.

Schlipf, N., R. Schule, S. Klimpe, K. Karle, M. Synofzik, J. Schicks, O. Riess, L. Schols, and P. Bauer, Amplicon-based high-throughput pooled sequencing identifies mutations in CYP7B1 and SPG7 in sporadic spastic paraplegia patients. Clin Genet, 2011. 80(2): p. 148-60.

Richter, S., X. Gorny, J. Marco-Pallares, U.M. Kramer, J. Machts, A. Barman, H.G. Bernstein, R. Schule, L. Schols, A. Rodriguez-Fornells, C. Reissner, T. Wustenberg, H.J. Heinze, E.D. Gundelfinger, E. Duzel, T.F. Munte, C.I. Seidenbecher, and B.H. Schott, A Potential Role for a Genetic Variation of AKAP5 in Human Aggression and Anger Control. Front Hum Neurosci, 2011. 5: p. 175.

Pomper, J.K., H. Wilhelm, S.K. Tayebati, F. Asmus, R. Schule, K.D. Sievert, C.A. Haensch, A. Melms, and T. Haarmeier, A novel clinical syndrome revealing a deficiency of the muscarinic M3 receptor. Neurology, 2011. 76(5): p. 451-5.

Mateos, L., M.A. Ismail, F.J. Gil-Bea, R. Schule, L. Schols, M. Heverin, R. Folkesson, I. Bjorkhem, and A. Cedazo-Minguez, Side-chain oxidized oxysterols regulate the brain renin-angiotensin system through a liver-X receptor dependent mechanism. J Biol Chem, 2011.

2010

Synofzik, M., R. Schule, C. Schulte, R. Kruger, T. Lindig, L. Schols, and F. Asmus, Complex hyperkinetic movement disorders associated with POLG mutations. Movement disorders : official journal of the Movement Disorder Society, 2010. 25(14): p. 2472-5.

Schule, R., T. Siddique, H.X. Deng, Y. Yang, S. Donkervoort, M. Hansson, R.E. Madrid, N. Siddique, L. Schols, and I. Bjorkhem, Marked accumulation of 27-hydroxycholesterol in SPG5 patients with hereditary spastic paresis. J Lipid Res, 2010. 51(4): p. 819-23.

Schlipf, N.A., C. Beetz, R. Schule, G. Stevanin, A.K. Erichsen, S. Forlani, C. Zaros, K. Karle, S. Klebe, S. Klimpe, A. Durr, S. Otto, C.M. Tallaksen, O. Riess, A. Brice, P. Bauer, and L. Schols, A total of 220 patients with autosomal dominant spastic paraplegia do not display mutations in the SLC33A1 gene (SPG42). Eur J Hum Genet, 2010.

Marco-Pallares, J., W. Nager, U.M. Kramer, T. Cunillera, E. Camara, D. Cucurell, R. Schule, L. Schols, A. Rodriguez-Fornells, and T.F. Munte, Neurophysiological markers of novelty processing are modulated by COMT and DRD4 genotypes. Neuroimage, 2010. 53(3): p. 962-9.

Camara, E., U.M. Kramer, T. Cunillera, J. Marco-Pallares, D. Cucurell, W. Nager, A. Mestres-Misse, P. Bauer, R. Schule, L. Schols, C. Tempelmann, A. Rodriguez-Fornells, and T.F. Munte, The Effects of COMT (Val108/158Met) and DRD4 (SNP -521) Dopamine Genotypes on Brain Activations Related to Valence and Magnitude of Rewards. Cereb Cortex, 2010.

2009

Schule, R., N. Schlipf, M. Synofzik, S. Klebe, S. Klimpe, U. Hehr, B. Winner, T. Lindig, A. Dotzer, O. Riess, J. Winkler, L. Schols, and P. Bauer, Frequency and phenotype of SPG11 and SPG15 in complicated hereditary spastic paraplegia. J Neurol Neurosurg Psychiatry, 2009. 80(12): p. 1402-4.

Schule, R., E. Brandt, K.N. Karle, M. Tsaousidou, S. Klebe, S. Klimpe, M. Auer-Grumbach, A.H. Crosby, C.A. Hubner, L. Schols, T. Deufel, and C. Beetz, Analysis of CYP7B1 in non-consanguineous cases of hereditary spastic paraplegia. Neurogenetics, 2009. 10(2): p. 97-104.

Schule, R., M. Bonin, A. Durr, S. Forlani, A.D. Sperfeld, S. Klimpe, J.C. Mueller, A. Seibel, B.P. van de Warrenburg, P. Bauer, and L. Schols, Autosomal dominant spastic paraplegia with peripheral neuropathy maps to chr12q23-24. Neurology, 2009. 72(22): p. 1893-8.

Marco-Pallares, J., D. Cucurell, T. Cunillera, U.M. Kramer, E. Camara, W. Nager, P. Bauer, R. Schule, L. Schols, T.F. Munte, and A. Rodriguez-Fornells, Genetic variability in the dopamine system (dopamine receptor D4, catechol-O-methyltransferase) modulates neurophysiological responses to gains and losses. Biol Psychiatry, 2009. 66(2): p. 154-61.

Kramer, U.M., N. Rojo, R. Schule, T. Cunillera, L. Schols, J. Marco-Pallares, D. Cucurell, E. Camara, A. Rodriguez-Fornells, and T.F. Munte, ADHD candidate gene (DRD4 exon III) affects inhibitory control in a healthy sample. BMC Neurosci, 2009. 10: p. 150.

Bauer, P., B. Winner, R. Schule, C. Bauer, V. Hafele, U. Hehr, M. Bonin, M. Walter, K. Karle, T.M. Ringer, O. Riess, J. Winkler, and L. Schols, Identification of a heterozygous genomic deletion in the spatacsin gene in SPG11 patients using high-resolution comparative genomic hybridization. Neurogenetics, 2009. 10(1): p. 43-8.

2008

Schule, R., B.P. Kremer, J. Kassubek, M. Auer-Grumbach, V. Kostic, T. Klopstock, S. Klimpe, S. Otto, S. Boesch, B.P. van de Warrenburg, and L. Schols, SPG10 is a rare cause of spastic paraplegia in European families. J Neurol Neurosurg Psychiatry, 2008. 79(5): p. 584-7.

Schols, L., L. Arning, R. Schule, J.T. Epplen, and D. Timmann, "Pseudodominant inheritance" of ataxia with ocular apraxia type 2 (AOA2). J Neurol, 2008. 255(4): p. 495-501.

Ebbing, B., K. Mann, A. Starosta, J. Jaud, L. Schols, R. Schule, and G. Woehlke, Effect of spastic paraplegia mutations in KIF5A kinesin on transport activity. Hum Mol Genet, 2008. 17(9): p. 1245-52.

Beetz, C., R. Schule, S. Klebe, S. Klimpe, T. Klopstock, A. Lacour, S. Otto, A.D. Sperfeld, B. van de Warrenburg, L. Schols, and T. Deufel, Screening of hereditary spastic paraplegia patients for alterations at NIPA1 mutational hotspots. J Neurol Sci, 2008. 268(1-2): p. 131-5.

Beetz, C.*, R. Schule*, T. Deconinck*, K.N. Tran-Viet, H. Zhu, B.P. Kremer, S.G. Frints, W.A. van Zelst-Stams, P. Byrne, S. Otto, A.O. Nygren, J. Baets, K. Smets, B. Ceulemans, B. Dan, N. Nagan, J. Kassubek, S. Klimpe, T. Klopstock, H. Stolze, H.J. Smeets, C.T. Schrander-Stumpel, M. Hutchinson, B.P. van de Warrenburg, C. Braastad, T. Deufel, M. Pericak-Vance, L. Schols, P. de Jonghe, and S. Zuchner, REEP1 mutation spectrum and genotype/phenotype correlation in hereditary spastic paraplegia type 31. Brain, 2008. 131(Pt 4): p. 1078-86.

2007

Kramer, U.M., T. Cunillera, E. Camara, J. Marco-Pallares, D. Cucurell, W. Nager, P. Bauer, R. Schule, L. Schols, A. Rodriguez-Fornells, and T.F. Munte, The impact of catechol-O-methyltransferase and dopamine D4 receptor genotypes on neurophysiological markers of performance monitoring. J Neurosci, 2007. 27(51): p. 14190-8.

Hehr, U.*, P. Bauer*, B. Winner*, R. Schule*, A. Olmez, W. Koehler, G. Uyanik, A. Engel, D. Lenz, A. Seibel, A. Hehr, S. Ploetz, J. Gamez, A. Rolfs, J. Weis, T.M. Ringer, M. Bonin, G. Schuierer, J. Marienhagen, U. Bogdahn, B.H. Weber, H. Topaloglu, L. Schols, O. Riess, and J. Winkler, Long-term course and mutational spectrum of spatacsin-linked spastic paraplegia. Ann Neurol, 2007. 62(6): p. 656-65.

2006

Leyhe, T., R. Schüle, F. Schwarzler, T. Gasser, and T. Haarmeier, Second primary tumor in anti-Ma1/2-positive paraneoplastic limbic encephalitis. Jounal of Neuro-Oncology, 2006. 78(1), 49-51

Schule, R., T. Holland-Letz, S. Klimpe, J. Kassubek, T. Klopstock, V. Mall, S. Otto, B. Winner, and L. Schols, The Spastic Paraplegia Rating Scale (SPRS): a reliable and valid measure of disease severity. Neurology, 2006. 67(3): p. 430-4.

Schols, L., T. Nagele, R. Schule, and D. Berg, Cerebrotendinous xanthomatosis. Neurology, 2006. 67(11): p. E20.

Beetz, C., A.O. Nygren, J. Schickel, M. Auer-Grumbach, K. Burk, G. Heide, J. Kassubek, S. Klimpe, T. Klopstock, F. Kreuz, S. Otto, R. Schule, L. Schols, A.D. Sperfeld, O.W. Witte, and T. Deufel, High frequency of partial SPAST deletions in autosomal dominant hereditary spastic paraplegia. Neurology, 2006. 67(11): p. 1926-30.

2004

Steiner, H.H., M.M. Bonsanto, P. Beckhove, M. Brysch, K. Geletneky, R. Ahmadi, R. Schuele-Freyer, P. Kremer, G. Ranaie, D. Matejic, H. Bauer, M. Kiessling, S. Kunze, V. Schirrmacher, and C. Herold-Mende, Antitumor vaccination of patients with glioblastoma multiforme: a pilot study to assess feasibility, safety, and clinical benefit. J Clin Oncol, 2004. 22(21): p. 4272-81.

* equal contribution

Reviews

Schule, R. and L. Schols, Genetics of hereditary spastic paraplegias. Seminars in neurology, 2011. 31(5): p. 484-93.

Buchkapitel

Schüle, R., Schöls, L. (2015). Genetics of HSP In Schneider, S., Bras, T.J. (Eds.), Movement Disorder Genetics. Springer Berlin Heidelberg.

Schüle, R., Schöls, L. (2009). Hereditary Spastic Paraplegia In Lang, R. (Ed.), Encyclopedia of Molecular Mechanisms of Disease. Springer Berlin Heidelberg.