| Genome-wide analyses identify KIF5A as a novel ALS gene A Nicolas, KP Kenna, AE Renton, N Ticozzi, F Faghri, R Chia, ... Neuron 97 (6), 1267-1288, 2018 | 591 | 2018 |
| The Spastic Paraplegia Rating Scale (SPRS) a reliable and valid measure of disease severity R Schule, T Holland-Letz, S Klimpe, J Kassubek, T Klopstock, V Mall, ... Neurology 67 (3), 430-434, 2006 | 292 | 2006 |
| De novo loss-or gain-of-function mutations in KCNA2 cause epileptic encephalopathy S Syrbe, U Hedrich, E Riesch, T Djémié, S Müller, RS Møller, B Maher, ... Nature genetics 47 (4), 393-399, 2015 | 287 | 2015 |
| Hereditary spastic paraplegia: clinicogenetic lessons from 608 patients R Schüle, S Wiethoff, P Martus, KN Karle, S Otto, S Klebe, S Klimpe, ... Annals of neurology 79 (4), 646-658, 2016 | 267 | 2016 |
| PNPLA6 mutations cause Boucher-Neuhäuser and Gordon Holmes syndromes as part of a broad neurodegenerative spectrum M Synofzik, MA Gonzalez, CM Lourenco, M Coutelier, TB Haack, ... Brain 137 (1), 69-77, 2014 | 227 | 2014 |
| Alteration of fatty-acid-metabolizing enzymes affects mitochondrial form and function in hereditary spastic paraplegia C Tesson, M Nawara, MAM Salih, R Rossignol, MS Zaki, M Al Balwi, ... The American Journal of Human Genetics 91 (6), 1051-1064, 2012 | 217 | 2012 |
| Mutations in SLC25A46, encoding a UGO1-like protein, cause an optic atrophy spectrum disorder AJ Abrams, RB Hufnagel, A Rebelo, C Zanna, N Patel, MA Gonzalez, ... Nature genetics 47 (8), 926-932, 2015 | 213 | 2015 |
| REEP1 mutation spectrum and genotype/phenotype correlation in hereditary spastic paraplegia type 31 C Beetz, R Schüle, T Deconinck, KN Tran-Viet, H Zhu, BPH Kremer, ... Brain 131 (4), 1078-1086, 2008 | 208 | 2008 |
| Loss of function of glucocerebrosidase GBA2 is responsible for motor neuron defects in hereditary spastic paraplegia E Martin, R Schüle, K Smets, A Rastetter, A Boukhris, JL Loureiro, ... The American Journal of Human Genetics 92 (2), 238-244, 2013 | 198 | 2013 |
| Overcoming the divide between ataxias and spastic paraplegias: shared phenotypes, genes, and pathways M Synofzik, R Schüle Movement Disorders 32 (3), 332-345, 2017 | 189 | 2017 |
| Mutations in BICD2 cause dominant congenital spinal muscular atrophy and hereditary spastic paraplegia EC Oates, AM Rossor, M Hafezparast, M Gonzalez, F Speziani, ... The American Journal of Human Genetics 92 (6), 965-973, 2013 | 189 | 2013 |
| Mutations in the ER-shaping protein reticulon 2 cause the axon-degenerative disorder hereditary spastic paraplegia type 12 G Montenegro, AP Rebelo, J Connell, R Allison, C Babalini, M D’Aloia, ... The Journal of clinical investigation 122 (2), 538-544, 2012 | 187 | 2012 |
| Autosomal recessive spastic ataxia of Charlevoix Saguenay (ARSACS): expanding the genetic, clinical and imaging spectrum M Synofzik, AS Soehn, J Gburek-Augustat, J Schicks, KN Karle, R Schüle, ... Orphanet journal of rare diseases 8 (1), 41, 2013 | 185 | 2013 |
| Alteration of ganglioside biosynthesis responsible for complex hereditary spastic paraplegia A Boukhris, R Schule, JL Loureiro, CM Lourenço, E Mundwiller, ... The American Journal of Human Genetics 93 (1), 118-123, 2013 | 184 | 2013 |
| Loss-of-function mutations in the ATP13A2/PARK9 gene cause complicated hereditary spastic paraplegia (SPG78) A Estrada-Cuzcano, S Martin, T Chamova, M Synofzik, D Timmann, ... Brain 140 (2), 287-305, 2017 | 170 | 2017 |
| Effect of spastic paraplegia mutations in KIF5A kinesin on transport activity B Ebbing, K Mann, A Starosta, J Jaud, L Schöls, R Schüle, G Woehlke Human molecular genetics 17 (9), 1245-1252, 2008 | 170 | 2008 |
| High frequency of partial SPAST deletions in autosomal dominant hereditary spastic paraplegia C Beetz, AOH Nygren, J Schickel, M Auer-Grumbach, K Burk, G Heide, ... Neurology 67 (11), 1926-1930, 2006 | 165 | 2006 |
| Genetics of hereditary spastic paraplegias R Schüle, L Schöls Seminars in neurology 31 (05), 484-493, 2011 | 159 | 2011 |
| The impact of catechol-O-methyltransferase and dopamine D4 receptor genotypes on neurophysiological markers of performance monitoring UM Krämer, T Cunillera, E Camara, J Marco-Pallarés, D Cucurell, ... Journal of Neuroscience 27 (51), 14190-14198, 2007 | 158 | 2007 |
| Extrapulmonary Aspergillus infection in patients with CARD9 deficiency N Rieber, RP Gazendam, AF Freeman, AP Hsu, AL Collar, JA Sugui, ... JCI insight 1 (17), 2016 | 143 | 2016 |
Matthis SynofzikHertie-Institute for Clinical Brain Research & Center for Neurology, Tübingen, Germany在 uni-tuebingen.de 的电子邮件经过验证
