ALS

Phenotyping of the thoracic-onset variant of amyotrophic lateral sclerosis
Katharina Kandler, Simon Witzel, Konstantin Eder, Dietrich Rothenbacher, Gabriele Nagel, Raphael S Peter, Joachim Schuster, Johannes Dorst, Angela Rosenbohm, Albert C Ludolph

Journal of Neurology, Neurosurgery & Psychiatry Oct 2021, jnnp-2021-326712; DOI: 10.1136/jnnp-2021-326712
Sensitivity of brain MRI and neurological examination for detection of upper motor neurone degeneration in amyotrophic lateral sclerosis
Abram D Nitert, Harold HG Tan, Renée Walhout, Nienke L Knijnenburg, Michael A van Es, Jan H Veldink, Jeroen Hendrikse, Henk-Jan Westeneng, Leonard H van den Berg

Journal of Neurology, Neurosurgery & Psychiatry Oct 2021, jnnp-2021-327269; DOI: 10.1136/jnnp-2021-327269
The cerebellum in ALS: friend or foe?
Pierre-Francois Pradat

Journal of Neurology, Neurosurgery & Psychiatry Nov 2021, 92 (11) 1137; DOI: 10.1136/jnnp-2021-327216
De novo mutations in SOD1 are a cause of ALS
Kathrin Müller, Ki-Wook Oh, Angelica Nordin, Sudhan Panthi, Seung Hyun Kim, Frida Nordin, Axel Freischmidt, Albert C Ludolph, Chang Seok Ki, Karin Forsberg, Jochen Weishaupt, Young-Eun Kim, Peter Munch Andersen

Journal of Neurology, Neurosurgery & Psychiatry Sep 2021, jnnp-2021-327520; DOI: 10.1136/jnnp-2021-327520
Psychopathology in premanifest C9orf72 repeat expansion carriers
Joke De Vocht, Daphne Stam, Marie Nicolini, Nikita Lamaire, Maarten Laroy, Thomas Vande Casteele, Laura Van De Vliet, Kristof Vansteelandt, Ann D'Hondt, Louise Emsell, Ronny Bruffaerts, Mathieu Vandenbulcke, Philip van Damme, Jan Van den Stock

Journal of Neurology, Neurosurgery & Psychiatry Sep 2021, jnnp-2021-327774; DOI: 10.1136/jnnp-2021-327774
GBA variants influence cognitive status in amyotrophic lateral sclerosis
Antonio Canosa, Maurizio Grassano, Cristina Moglia, Barbara Iazzolino, Laura Peotta, Salvatore Gallone, Maura Brunetti, Marco Barberis, Luca Sbaiz, Francesca Palumbo, Sara Cabras, Umberto Manera, Rosario Vasta, Bryan Traynor, Lucia Corrado, Sandra D'Alfonso, Letizia Mazzini, Andrea Calvo, Adriano Chio

Journal of Neurology, Neurosurgery & Psychiatry Sep 2021, jnnp-2021-327426; DOI: 10.1136/jnnp-2021-327426
Isolated homozygous R217X OPTN mutation causes knock-out of functional C-terminal optineurin domains and associated oligodendrogliopathy-dominant ALS–TDP
Matthew Nolan, Paola Barbagallo, Martin R Turner, Michael John Keogh, Patrick F Chinnery, Kevin Talbot, Olaf Ansorge

Journal of Neurology, Neurosurgery & Psychiatry Sep 2021, 92 (9) 1022-1024; DOI: 10.1136/jnnp-2020-325803
Extensive heterogeneity in patients with ALS with mutations in SOD1 in France
Peter Munch Andersen

Journal of Neurology, Neurosurgery & Psychiatry Sep 2021, 92 (9) 914; DOI: 10.1136/jnnp-2021-326553
Hemiplegic-type ALS shows a strong correlation between upper, lower motor neuron degeneration and pTDP-43 pathology
Nilo Riva, Angelo Quattrini

Journal of Neurology, Neurosurgery & Psychiatry Sep 2021, 92 (9) 917; DOI: 10.1136/jnnp-2021-326512
Risk factors for cognitive impairment in amyotrophic lateral sclerosis: a systematic review and meta-analysis
Tianmi Yang, Yanbing Hou, Chunyu Li, Bei Cao, Yangfan Cheng, Qianqian Wei, Lingyu Zhang, Huifang Shang

Journal of Neurology, Neurosurgery & Psychiatry Jul 2021, 92 (7) 688-693; DOI: 10.1136/jnnp-2020-325701

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