Rebecca Schüle

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	Hepsi	2019 yılından bugüne
Alıntılar	9742	5788
h-endeksi	56	42
i10-endeksi	118	102

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Genel erişim

Tümünü görüntüle

114 makale

12 makale

genel erişime açık olanlar

genel erişime açık olmayanlar

Finansman sağlayan kuruluşun getirdiği zorunluluğa dayalı olarak

Katkıda bulunan yazarlar

Matthis SynofzikHertie-Institute for Clinical Brain Research & Center for Neurology, Tübingen, Germanyuni-tuebingen.de üzerinde doğrulanmış e-posta adresine sahip
Stephan ZuchnerProfessor, Department of Human Genetics, University of Miami Miller School of Medicinemed.miami.edu üzerinde doğrulanmış e-posta adresine sahip
Michael GonzalezChildren's Hospital of Philadelphiaemail.chop.edu üzerinde doğrulanmış e-posta adresine sahip
Thomas KlopstockDept. of Neurology, University of Munichmed.lmu.de üzerinde doğrulanmış e-posta adresine sahip
Peter De JongheVIB Department of Molecular Genetics, Neurogenetics Group, University of Antwerp, Institute Bornmolgen.vib-ua.be üzerinde doğrulanmış e-posta adresine sahip
Beate WinnerAssociate Professor, Department of Stem Cell Biology, FAU Erlangen-Nürnbergfau.de üzerinde doğrulanmış e-posta adresine sahip
Olaf RiessProfessor der Humangenetik, Universität Tübingenmed.uni-tuebingen.de üzerinde doğrulanmış e-posta adresine sahip
christian beetzJena University Hospitalmed.uni-jena.de üzerinde doğrulanmış e-posta adresine sahip
Josep Marco-PallarésDepartment of Cognition, Development and Psychological Education, University of Barcelona, IDIBELLub.edu üzerinde doğrulanmış e-posta adresine sahip
Ulrike M KrämerUniversity of Lübeckuni-luebeck.de üzerinde doğrulanmış e-posta adresine sahip
Toni CunilleraProfessor de Psicologiaub.edu üzerinde doğrulanmış e-posta adresine sahip
Jonathan BaetsNeurogenetics group, University of Antwerpuantwerpen.be üzerinde doğrulanmış e-posta adresine sahip
Antoni Rodriguez-FornellsICREA - University of Barcelonaicrea.cat üzerinde doğrulanmış e-posta adresine sahip
Thomas MünteDept. of Neurology, University of Lübeckneuro.uni-luebeck.de üzerinde doğrulanmış e-posta adresine sahip
Adriana RebeloUniversity of Miamimed.miami.edu üzerinde doğrulanmış e-posta adresine sahip
alexis briceICMicm-institute.org üzerinde doğrulanmış e-posta adresine sahip
Peter MartusProfessor für Klinische Epidemiologie und Biostatistikmed.uni-tuebingen.de üzerinde doğrulanmış e-posta adresine sahip
Jürgen WinklerProfessor für Neurologie, Universitätsklinikum Erlangenuk-erlangen.de üzerinde doğrulanmış e-posta adresine sahip
Prokisch HInstitute of Human Genetics TU-Munichhelmholtz-munich.de üzerinde doğrulanmış e-posta adresine sahip
Evan ReidProfessor of Neurogenetics and Molecular Neurobiology, University of Cambridgecam.ac.uk üzerinde doğrulanmış e-posta adresine sahip

Takip et

Rebecca Schüle

Division of Neurodegenerative Diseases and Movement Disorders, Dept. of Neurology, Univ Heidelberg

uni-heidelberg.de üzerinde doğrulanmış e-posta adresine sahip - Ana Sayfa

Neurology Genetics Movement Disorder Genomics Rare Diseases


Başlık Alıntılara göre sırala Yıla göre sırala Başlığa göre sırala	Alıntı yapanlar Alıntı yapanlar	Yıl
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), 1268-1283. e6, 2018	579	2018
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	284	2015
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	284	2006
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	264	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	223	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	216	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	210	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	207	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
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	188	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	186	2012
Overcoming the divide between ataxias and spastic paraplegias: shared phenotypes, genes, and pathways M Synofzik, R Schüle Movement Disorders 32 (3), 332-345, 2017	184	2017
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	183	2013
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	181	2013
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
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	168	2017
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	158	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	140	2016

Sistem, işlemi şu anda gerçekleştiremiyor. Daha sonra yeniden deneyin.

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