genetics

Mutations in XRCC1 cause cerebellar ataxia and peripheral neuropathy
Emer O’Connor, Jana Vandrovcova, Enrico Bugiardini, Viorica Chelban, Andreea Manole, Indran Davagnanam, Sarah Wiethoff, Alan Pittman, David S Lynch, Stephanie Efthymiou, Silvia Marino, Adnan Y Manzur, Mark Roberts, Michael G Hanna, Henry Houlden, Emma Matthews, Nicholas W Wood

Journal of Neurology, Neurosurgery & Psychiatry Nov 2018, 89 (11) 1230-1232; DOI: 10.1136/jnnp-2017-317581
Greater medial temporal hypometabolism and lower cortical amyloid burden in ApoE4-positive AD patients
Manja Lehmann, Pia M Ghosh, Cindee Madison, Anna Karydas, Giovanni Coppola, James P O'Neil, Yadong Huang, Bruce L Miller, William J Jagust, Gil D Rabinovici

Journal of Neurology, Neurosurgery & Psychiatry Mar 2014, 85 (3) 266-273; DOI: 10.1136/jnnp-2013-305858
High prevalence of the MYD88 L265P mutation in IgM anti-MAG paraprotein-associated peripheral neuropathy
Josephine Mathilde Vos, Nicolette C Notermans, Shirley D’Sa, Michael P Lunn, W Ludo van der Pol, Willem Kraan, Mary M Reilly, Jane Chalker, Rajeev Gupta, Marie-José Kersten, Steven T Pals, Monique C Minnema

Journal of Neurology, Neurosurgery & Psychiatry Sep 2018, 89 (9) 1007-1009; DOI: 10.1136/jnnp-2017-316689
Dystonia in children and adolescents: a systematic review and a new diagnostic algorithm
Martje E van Egmond, Anouk Kuiper, Hendriekje Eggink, Richard J Sinke, Oebele F Brouwer, Corien C Verschuuren-Bemelmans, Deborah A Sival, Marina A J Tijssen, Tom J de Koning

Journal of Neurology, Neurosurgery & Psychiatry Jul 2015, 86 (7) 774-781; DOI: 10.1136/jnnp-2014-309106
Sudden unexpected death in epilepsy: basic mechanisms and clinical implications for prevention
Brian J Dlouhy, Brian K Gehlbach, George B Richerson

Journal of Neurology, Neurosurgery & Psychiatry Apr 2016, 87 (4) 402-413; DOI: 10.1136/jnnp-2013-307442
Changes in pathological and biochemical findings of systemic tissue sites in familial amyloid polyneuropathy more than 10 years after liver transplantation
Toshinori Oshima, Satomi Kawahara, Mitsuharu Ueda, Yushi Kawakami, Rina Tanaka, Takahiro Okazaki, Yohei Misumi, Konen Obayashi, Taro Yamashita, Yuki Ohya, Elisabet Ihse, Satoru Shinriki, Masayoshi Tasaki, Hirofumi Jono, Katsuhiro Asonuma, Yukihiro Inomata, Per Westermark, Yukio Ando

Journal of Neurology, Neurosurgery & Psychiatry Jul 2014, 85 (7) 740-746; DOI: 10.1136/jnnp-2013-305973
Idiopathic generalised epilepsy of adult onset: clinical syndromes and genetics
C Marini, M A King, J S Archer, M R Newton, S F Berkovic

Journal of Neurology, Neurosurgery & Psychiatry Feb 2003, 74 (2) 192-196; DOI: 10.1136/jnnp.74.2.192
Differentiating lower motor neuron syndromes
Nidhi Garg, Susanna B Park, Steve Vucic, Con Yiannikas, Judy Spies, James Howells, William Huynh, José M Matamala, Arun V Krishnan, John D Pollard, David R Cornblath, Mary M Reilly, Matthew C Kiernan

Journal of Neurology, Neurosurgery & Psychiatry Jun 2017, 88 (6) 474-483; DOI: 10.1136/jnnp-2016-313526
Genetic screening in sporadic ALS and FTD
Martin R Turner, Ammar Al-Chalabi, Adriano Chio, Orla Hardiman, Matthew C Kiernan, Jonathan D Rohrer, James Rowe, William Seeley, Kevin Talbot

Journal of Neurology, Neurosurgery & Psychiatry Dec 2017, 88 (12) 1042-1044; DOI: 10.1136/jnnp-2017-315995
Hereditary and inflammatory neuropathies: a review of reported associations, mimics and misdiagnoses
Yusuf A Rajabally, David Adams, Philippe Latour, Shahram Attarian

Journal of Neurology, Neurosurgery & Psychiatry Oct 2016, 87 (10) 1051-1060; DOI: 10.1136/jnnp-2015-310835

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