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Amyotrophic Lateral Sclerosis Volume 9, 2008 - Issue 4
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SHORT COMMUNICATION

Heterozygous S44L missense change of the spastin gene in amyotrophic lateral sclerosis

Christoph Münch Department of Neurology, Jewish Hospital Berlin, Berlin, Germany; Department of Neurology, University of Ulm, Ulm, Germany
,
Arndt Rolfs Department of Neurology, University of Rostock, Rostock, Germany
&
Thomas Meyer Department of Neurology, Charité University Hospital, Humboldt-University, Berlin, GermanyCorrespondence[email protected]
Pages 251-253 | Received 10 Oct 2007, Published online: 10 Jul 2009

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Vincenzo Silani, Philippe Corcia, Matthew B. Harms, Guy Rouleau, Teepu Siddique & Nicola Ticozzi. (2020) Genetics of primary lateral sclerosis. Amyotrophic Lateral Sclerosis and Frontotemporal Degeneration 21:sup1, pages 28-34.
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Xinbei Liu & Jessica L. Henty-Ridilla. (2022) Multiple roles for the cytoskeleton in ALS. Experimental Neurology 355, pages 114143.
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Anna Bartoletti-Stella, Veria Vacchiano, Silvia De Pasqua, Giacomo Mengozzi, Dario De Biase, Ilaria Bartolomei, Patrizia Avoni, Giovanni Rizzo, Piero Parchi, Vincenzo Donadio, Adriano Chiò, Annalisa Pession, Federico Oppi, Fabrizio Salvi, Rocco Liguori & Sabina Capellari. (2021) Targeted sequencing panels in Italian ALS patients support different etiologies in the ALS/FTD continuum. Journal of Neurology 268:10, pages 3766-3776.
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María José Castellanos-Montiel, Mathilde Chaineau & Thomas M. Durcan. (2020) The Neglected Genes of ALS: Cytoskeletal Dynamics Impact Synaptic Degeneration in ALS. Frontiers in Cellular Neuroscience 14.
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A.J. Moszczynski & M.J. Strong. 2017. The Cerebral Cortex in Neurodegenerative and Neuropsychiatric Disorders. The Cerebral Cortex in Neurodegenerative and Neuropsychiatric Disorders 223 242 .
Peter Balicza, Zoltan Grosz, Michael A. Gonzalez, Renata Bencsik, Klara Pentelenyi, Aniko Gal, Edina Varga, Peter Klivenyi, Julia Koller, Stephan Züchner & Maria Judit Molnar. (2016) Genetic background of the hereditary spastic paraplegia phenotypes in Hungary — An analysis of 58 probands. Journal of the Neurological Sciences 364, pages 116-121.
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Elena Ratti & James D. Berry. 2016. Genomics, Circuits, and Pathways in Clinical Neuropsychiatry. Genomics, Circuits, and Pathways in Clinical Neuropsychiatry 685 712 .
Susan C. Woolley & Michael J. Strong. (2015) Frontotemporal Dysfunction and Dementia in Amyotrophic Lateral Sclerosis. Neurologic Clinics 33:4, pages 787-805.
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Kevin Boylan. (2015) Familial Amyotrophic Lateral Sclerosis. Neurologic Clinics 33:4, pages 807-830.
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John Gardiner. 2015. Movement Disorders. Movement Disorders 1137 1142 .
Lucio Tremolizzo, Gessica Sala, Elisa Conti, Virginia Rodriguez-Menendez, Antonella Fogli, Angela Michelucci, Paolo Simi, Silvana Penco, Christian Lunetta, Massimo Corbo & Carlo Ferrarese. (2014) Valproate Treatment in an ALS Patient Carrying a c.194G>A Spastin Mutation and SMN2 Homozygous Deletion. Case Reports in Neurological Medicine 2014, pages 1-7.
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Caroline Ingre, John E. Landers, Naji Rizik, Alexander E. Volk, Chizuru Akimoto, Anna Birve, Annemarie Hübers, Pamela J. Keagle, Katarzyna Piotrowska, Rayomand Press, Peter Munch Andersen, Albert C. Ludolph & Jochen H. Weishaupt. (2013) A novel phosphorylation site mutation in profilin 1 revealed in a large screen of US, Nordic, and German amyotrophic lateral sclerosis/frontotemporal dementia cohorts. Neurobiology of Aging 34:6, pages 1708.e1-1708.e6.
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DS McCorquodaleIIIIII, U Ozomaro, J Huang, G Montenegro, A Kushman, L Citrigno, J Price, F Speziani, MA Pericak-Vance & S Züchner. (2011) Mutation screening of spastin, atlastin, and REEP1 in hereditary spastic paraplegia. Clinical Genetics 79:6, pages 523-530.
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J. Gardiner & J. Marc. (2010) Arabidopsis thaliana, a plant model organism for the neuronal microtubule cytoskeleton?. Journal of Experimental Botany 62:1, pages 89-97.
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Aditi Falnikar & Peter W. Baas. 2009. Cell Biology of the Axon. Cell Biology of the Axon 47 64 .

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