Hereditary spastic paraplegia: Clinicogenetic lessons from 608 patients
Schüle, Rebecca, Wiethoff, Sarah, Martus, Peter, Karle, Kathrin N., Otto, Susanne, Klebe, Stephan, Klimpe, Sven, Gallenmüller, Constanze, Kurzwelly, Delia, Henkel, Dorothea, Rimmele, Florian, Stolze, Henning, Kohl, Zacharias, Kassubek, Jan, Klockgether, Thomas, Vielhaber, Stefan, Kamm, Christoph, Klopstock, Thomas, Bauer, Peter, Züchner, Stephan, Liepelt-Scarfone, Inga, Schöls, Ludger
Published in Annals of neurology (01.04.2016)
Published in Annals of neurology (01.04.2016)
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Journal Article
Distinctive distribution of phospho-alpha-synuclein in dermal nerves in multiple system atrophy
Doppler, Kathrin, Weis, Jessica, Karl, Katharina, Ebert, Sönke, Ebentheuer, Jens, Trenkwalder, Claudia, Klebe, Stephan, Volkmann, Jens, Sommer, Claudia
Published in Movement disorders (01.10.2015)
Published in Movement disorders (01.10.2015)
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Journal Article
Monogenetic Forms of Parkinson's Disease - Bridging the Gap Between Genetics and Biomarkers
Tönges, Lars, Kwon, Eun Hae, Klebe, Stephan
Published in Frontiers in aging neuroscience (03.03.2022)
Published in Frontiers in aging neuroscience (03.03.2022)
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Journal Article
Clinically approved immunomodulators ameliorate behavioral changes in a mouse model of hereditary spastic paraplegia type 11
Hörner, Michaela, Popp, Sandy, Branchu, Julien, Stevanin, Giovanni, Darios, Frédéric, Klebe, Stephan, Groh, Janos, Martini, Rudolf
Published in Frontiers in neuroscience (2024)
Published in Frontiers in neuroscience (2024)
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Journal Article
Development and validation of TreatHSP-QoL: a patient-reported outcome measure for health-related quality of life in hereditary spastic paraplegia
Malina, Jekaterina, Huessler, Eva-Maria, Jöckel, Karl-Heinz, Boog-Whiteside, Eva, Jeschonneck, Nicole, Schröder, Bernadette, Schüle, Rebecca, Kühl, Tobias, Klebe, Stephan
Published in Orphanet journal of rare diseases (02.01.2024)
Published in Orphanet journal of rare diseases (02.01.2024)
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Journal Article
Examining the Reserve Hypothesis in Parkinson's Disease: A Longitudinal Study
Lee, Pei‐Chen, Artaud, Fanny, Cormier‐Dequaire, Florence, Rascol, Olivier, Durif, Franck, Derkinderen, Pascal, Marques, Ana‐Raquel, Bourdain, Frédéric, Brandel, Jean‐Philippe, Pico, Fernando, Lacomblez, Lucette, Bonnet, Cecilia, Brefel‐Courbon, Christine, Ory‐Magne, Fabienne, Grabli, David, Klebe, Stephan, Mangone, Graziella, You, Hana, Mesnage, Valérie, Brice, Alexis, Vidailhet, Marie, Corvol, Jean‐Christophe, Elbaz, Alexis
Published in Movement disorders (01.11.2019)
Published in Movement disorders (01.11.2019)
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Journal Article
Identification and characterisation of pathogenic and non-pathogenic FGF14 repeat expansions
Mohren, Lars, Erdlenbruch, Friedrich, Leitão, Elsa, Kilpert, Fabian, Hönes, G. Sebastian, Kaya, Sabine, Schröder, Christopher, Thieme, Andreas, Sturm, Marc, Park, Joohyun, Schlüter, Agatha, Ruiz, Montserrat, Morales de la Prida, Moisés, Casasnovas, Carlos, Becker, Kerstin, Roggenbuck, Ulla, Pechlivanis, Sonali, Kaiser, Frank J., Synofzik, Matthis, Wirth, Thomas, Anheim, Mathieu, Haack, Tobias B., Lockhart, Paul J., Jöckel, Karl-Heinz, Pujol, Aurora, Klebe, Stephan, Timmann, Dagmar, Depienne, Christel
Published in Nature communications (03.09.2024)
Published in Nature communications (03.09.2024)
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Journal Article
KIF1A missense mutations in SPG30, an autosomal recessive spastic paraplegia: distinct phenotypes according to the nature of the mutations
KLEBEL, Stephan, LOSSOS, Alexander, RASTETTER, Agnes, MARTIN, Elodie, BOUTEILLER, Delphine, ORLANDO, Laurent, GYAPAY, Gabor, EL-HACHIMI, Khalid H, ZIMMERMAN, Batel, GAMLIEL, Moriya, MISK, Adel, LERER, Israela, AZZEDINE, Hamid, BRICE, Alexis, DURR, Alexandra, STEVANIN, Giovanni, MUNDWILLER, Emeline, SHEFFER, Ruth, GAUSSEN, Marion, MARELLI, Cecilia, NAWARA, Magdalena, CARPENTIER, Wassila, MEYER, Vincent
Published in European journal of human genetics : EJHG (01.06.2012)
Published in European journal of human genetics : EJHG (01.06.2012)
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Journal Article
SARS-CoV-2, COVID-19 and Parkinson's Disease-Many Issues Need to Be Clarified-A Critical Review
Goerttler, Tsepo, Kwon, Eun-Hae, Fleischer, Michael, Stettner, Mark, Tönges, Lars, Klebe, Stephan
Published in Brain sciences (28.03.2022)
Published in Brain sciences (28.03.2022)
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Journal Article
Chorea-Acanthocytosis Presenting as Autosomal Recessive Epilepsy in a Family With a Novel VPS13A Mutation
Weber, Juliane, Frings, Lars, Rijntjes, Michel, Urbach, Horst, Fischer, Judith, Weiller, Cornelius, Meyer, Philipp T, Klebe, Stephan
Published in Frontiers in neurology (09.01.2019)
Published in Frontiers in neurology (09.01.2019)
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Journal Article
Prevalence of gait disorders in hospitalized neurological patients
Stolze, Henning, Klebe, Stephan, Baecker, Christoph, Zechlin, Christiane, Friege, Lars, Pohle, Sabine, Deuschl, Günther
Published in Movement disorders (01.01.2005)
Published in Movement disorders (01.01.2005)
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Journal Article
Non-Motor Symptoms of Essential Tremor Are Independent of Tremor Severity and Have an Impact on Quality of Life
Musacchio, Thomas, Purrer, Veronika, Papagianni, Aikaterini, Fleischer, Anna, Mackenrodt, Daniel, Malsch, Carolin, Gelbrich, Götz, Steigerwald, Frank, Volkmann, Jens, Klebe, Stephan
Published in Tremor and other hyperkinetic movements (New York, N.Y.) (08.03.2016)
Published in Tremor and other hyperkinetic movements (New York, N.Y.) (08.03.2016)
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Journal Article
Mapping of a new form of pure autosomal recessive spastic paraplegia (SPG28)
Bouslam, Naima, Benomar, Ali, Azzedine, Hamid, Bouhouche, Ahmed, Namekawa, Michito, Klebe, Stephan, Charon, Céline, Durr, Alexandra, Ruberg, Merle, Brice, Alexis, Yahyaoui, Mohamed, Stevanin, Giovanni
Published in Annals of neurology (01.04.2005)
Published in Annals of neurology (01.04.2005)
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Journal Article
NIPA1 (SPG6) mutations are a rare cause of autosomal dominant spastic paraplegia in Europe
Klebe, Stephan, Lacour, Arnaud, Durr, Alexandra, Stojkovic, Tanya, Depienne, Christel, Forlani, Sylvie, Poea-Guyon, Sandrine, Vuillaume, Isabelle, Sablonniere, Bernard, Vermersch, Patrick, Brice, Alexis, Stevanin, Giovanni
Published in Neurogenetics (01.04.2007)
Published in Neurogenetics (01.04.2007)
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