A rare CACNA1H variant associated with amyotrophic lateral sclerosis causes complete loss of Cav3.2 T-type channel activity

by Robin N. Stringer, Bohumila Jurkovicova-Tarabova, Sun Huang, Omid Haji-Ghassemi, Romane Idoux, Anna Liashenko, Ivana A. Souza, Yuriy Rzhepetskyy, Lubica Lacinova, Filip Van Petegem, Gerald W. Zamponi, Roger Pamphlett, Norbert Weiss
Published 2020-03-01

Routine Cerebrospinal Fluid (CSF) Parameters in Patients With Spinal Muscular Atrophy (SMA) Treated With Nusinersen

by Claudia D. Wurster, Jan C. Koch, Isabell Cordts, Jens Dreyhaupt, Markus Otto, Zeljko Uzelac, Simon Witzel, Benedikt Winter, Tugrul Kocak, Michael Schocke, Patrick Weydt, Kurt Wollinsky, Albert C. Ludolph, Albert C. Ludolph, Marcus Deschauer, Paul Lingor, Hayrettin Tumani, Hayrettin Tumani, Andreas Hermann, Andreas Hermann, René Günther, René Günther
Published 2019-11-01

Swimming in Deep Water: Zebrafish Modeling of Complicated Forms of Hereditary Spastic Paraplegia and Spastic Ataxia

by Valentina Naef, Serena Mero, Serena Mero, Gianluca Fichi, Gianluca Fichi, Angelica D'Amore, Angelica D'Amore, Angelica D'Amore, Asahi Ogi, Asahi Ogi, Federica Gemignani, Filippo M. Santorelli, Maria Marchese
Published 2019-12-01

The Emerging Role of DNA Damage in the Pathogenesis of the C9orf72 Repeat Expansion in Amyotrophic Lateral Sclerosis

by Anna Konopka, Julie D Atkin
Published 2018-10-01

Protein Homeostasis in Amyotrophic Lateral Sclerosis: Therapeutic Opportunities?

by Pamela J. Shaw, Kurt J. De Vos, Christopher P. Webster, Emma F. Smith
Published 2017-05-01

Amyotrophic lateral sclerosis presenting with orthopnea in a patient with COPD and obstructive sleep apnea

by T.L.N. Swamy, Syed Mahmood Ahmed, Ashfaq Hasan, Amrit B. Saxena
Published 2011-01-01

Calcium, Mitochondria and the Pathogenesis of ALS: The Good, the Bad and the Ugly

by Manoj Kumar Jaiswal
Published 2013-10-01

Retrograde labeling, transduction and genetic targeting allow cellular analysis of corticospinal motor neurons: Implications in health and disease.

by Javier Hernan Jara, Baris eGenc, Jodi L Klessner, Hande eOzdinler
Published 2014-03-01

Mecasin treatment in patients with amyotrophic lateral sclerosis: study protocol for a randomized controlled trial

by Sungha Kim, Jae Kyoun Kim, Mi Ju Son, Dongwoung Kim, Bongkeun Song, Ilhong Son, Hyung Won Kang, Jongdeok Lee, Sungchul Kim
Published 2018-04-01

Functional Biomarkers for Amyotrophic Lateral Sclerosis

by William Huynh, William Huynh, Thanuja Dharmadasa, Steve Vucic, Matthew C. Kiernan, Matthew C. Kiernan
Published 2019-01-01

Kynurenine Pathway Metabolites as Biomarkers for Amyotrophic Lateral Sclerosis

by Vanessa X. Tan, Gilles J. Guillemin
Published 2019-09-01

Correlation Between Maximal Tongue Pressure and Swallowing Function in Spinal and Bulbar Muscular Atrophy

by Dae-Won Gwak, Seung-Hwan Jung, Yu-Sun Min, Jin-Sung Park, Hee-Jin Cho, Donghwi Park, Min Woo Hong, Min-Gu Kang
Published 2021-09-01

Upplevelsen av Amyotrofisk lateralskleros : En litteraturstudie ur ett patientperspektiv

by Helming Kristérn, Emelie, Nordström, Malin
Published 2018

Stem cell-derived motor neurons from spinal and bulbar muscular atrophy patients

by Christopher Grunseich, Kristen Zukosky, Ilona R. Kats, Laboni Ghosh, George G. Harmison, Laura C. Bott, Carlo Rinaldi, Ke-lian Chen, Guibin Chen, Manfred Boehm, Kenneth H. Fischbeck
Published 2014-10-01

Dynein mutations associated with hereditary motor neuropathies impair mitochondrial morphology and function with age

by Judith Eschbach, Jérôme Sinniger, Jamal Bouitbir, Anissa Fergani, Anna-Isabel Schlagowski, Joffrey Zoll, Bernard Geny, Frédérique René, Yves Larmet, Vincent Marion, Robert H. Baloh, Matthew B. Harms, Michael E. Shy, Nadia Messadeq, Patrick Weydt, Jean-Philippe Loeffler, Albert C. Ludolph, Luc Dupuis
Published 2013-10-01

Informal Caregivers in Amyotrophic Lateral Sclerosis: A Multi-Centre, Exploratory Study of Burden and Difficulties

by Éilís Conroy, Polly Kennedy, Mark Heverin, Iracema Leroi, Emily Mayberry, Anita Beelen, Theocharis Stavroulakis, Leonard H. van den Berg, Christopher J. McDermott, Orla Hardiman, Miriam Galvin
Published 2021-08-01

Abnormal motor phenotype in the SMNΔ7 mouse model of spinal muscular atrophy

by Matthew E.R. Butchbach, Jonathan D. Edwards, Arthur H.M. Burghes
Published 2007-08-01

Characterization of seipin/BSCL2, a protein associated with spastic paraplegia 17

by Daisuke Ito, Taishi Fujisawa, Hiroshi Iida, Norihiro Suzuki
Published 2008-08-01

The Small-Molecule Flunarizine in Spinal Muscular Atrophy Patient Fibroblasts Impacts on the Gemin Components of the SMN Complex and TDP43, an RNA-Binding Protein Relevant to Motor Neuron Diseases

by Delphine Sapaly, Perrine Delers, Jennifer Coridon, Badih Salman, Franck Letourneur, Florent Dumont, Suzie Lefebvre
Published 2020-04-01

Identification of 17 highly expressed genes within mouse lumbar spinal cord anterior horn region from an in-situ hybridization atlas of 3430 genes: implications for motor neuron disease

by Michael A. Meyer
Published 2014-06-01