Updates on potential therapeutic targets in MSA by Viorica Chelban, Conceição Bettencourt, Henry Houlden

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Multiple system atrophy: genetic risks and alpha-synuclein mutations [version 1; referees: 2 approved] by Heather T Whittaker, Yichen Qui, Conceição Bettencourt, Henry Houlden

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Epileptic Phenotypes Associated With SNAREs and Related Synaptic Vesicle Exocytosis Machinery by Elisa Cali, Clarissa Rocca, Vincenzo Salpietro, Henry Houlden

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The genetics of intellectual disability: advancing technology and gene editing [version 1; peer review: 2 approved] by Muhammad Ilyas, Asif Mir, Stephanie Efthymiou, Henry Houlden

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Prevalence of familial cluster headache: a systematic review and meta-analysis by Emer O’Connor, Benjamin S. Simpson, Henry Houlden, Jana Vandrovcova, Manjit Matharu

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Reply: Genetic heterogeneity of neuronal intranuclear inclusion disease. What about the infantile variant? by Wai Yan Yau, Zhongbo Chen, Roisin Sullivan, Jana Vandrovcova, Henry Houlden

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R1352Q CACNA1A Variant in a Patient with Sporadic Hemiplegic Migraine, Ataxia, Seizures and Cerebral Oedema: A Case Report by Anker Stubberud, Emer O’Connor, Erling Tronvik, Henry Houlden, Manjit Matharu

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SPG11 Presenting with Tremor by Susanne A. Schneider, Catherine J. Mummery, Mohadeseh Mehrabian, Henry Houlden, Peter G. Bain

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Leucine rich repeat kinase 2 (LRRK2) GLY2019SER mutation is absent in a second cohort of Nigerian Africans with Parkinson disease. by Njideka U Okubadejo, Mie Rizig, Oluwadamilola O Ojo, Hallgeir Jonvik, Olajumoke Oshinaike, Emmeline Brown, Henry Houlden

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Generation of TWO G51D SNCA missense mutation iPSC lines (CRICKi011-A, CRICKi012-A) from two individuals at risk of Parkinson’s disease by Liani G. Devito, Zeinab Shadman Zanjani, James R. Evans, Annarita Scardamaglia, Henry Houlden, Sonia Gandhi, Lyn Healy

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P678: Biallelic variants in BECN1 are associated with a complex neurodevelopmental syndrome by Farid Ullah, Vincenzo Salpietro, Meghan Coghlan, Abhineet Sharma, Angelique Mercier, Anne McRae, Henry Houlden, Erica Davis

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Functional Studies of Missense TREM2 Mutations in Human Stem Cell-Derived Microglia by Philip W. Brownjohn, James Smith, Ravi Solanki, Ebba Lohmann, Henry Houlden, John Hardy, Sabine Dietmann, Frederick J. Livesey

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Charcot-Marie-Tooth type 4B2 demyelinating neuropathy in miniature Schnauzer dogs caused by a novel splicing SBF2 (MTMR13) genetic variant: a new spontaneous clinical model by Nicolas Granger, Alejandro Luján Feliu-Pascual, Charlotte Spicer, Sally Ricketts, Rebekkah Hitti, Oliver Forman, Joshua Hersheson, Henry Houlden

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Integrating protein networks and machine learning for disease stratification in the Hereditary Spastic Paraplegias by Nikoleta Vavouraki, James E. Tomkins, Eleanna Kara, Henry Houlden, John Hardy, Marcus J. Tindall, Patrick A. Lewis, Claudia Manzoni

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Analysis of C9orf72 repeat expansions in Georgian patients with Amyotrophic lateral sclerosis (ALS) [version 2; peer review: 2 approved] by Mariam Kekenadze, Clarissa Rocca, Henry Houlden, Rauan Kaiyrzhanov, Shorena Vashadze, Maia Beridze, Sara Nagy, Nana Kvirkvelia, Valentina Turchetti, Eka Kvaratskhelia

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The need for biochemical testing in beta‐enolase deficiency in the genomic era by Ralph Wigley, Renata S. Scalco, Alice R. Gardiner, Richard Godfrey, Suzanne Booth, Richard Kirk, David Hilton‐Jones, Henry Houlden, Simon Heales, Ros Quinlivan

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Synaptic dysfunction and extracellular matrix dysregulation in dopaminergic neurons from sporadic and E326K-GBA1 Parkinson’s disease patients by Idan Rosh, Utkarsh Tripathi, Yara Hussein, Wote Amelo Rike, Jose Djamus, Boris Shklyar, Andreea Manole, Henry Houlden, Jurgen Winkler, Fred H. Gage, Shani Stern

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Gene co-expression networks shed light into diseases of brain iron accumulation by Conceição Bettencourt, Paola Forabosco, Sarah Wiethoff, Moones Heidari, Daniel M. Johnstone, Juan A. Botía, Joanna F. Collingwood, John Hardy, Elizabeth A. Milward, Mina Ryten, Henry Houlden

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Not to Miss: Intronic Variants, Treatment, and Review of the Phenotypic Spectrum in <i>VPS13D</i>-Related Disorder by Martje G. Pauly, Norbert Brüggemann, Stephanie Efthymiou, Anne Grözinger, Sokhna Haissatou Diaw, Viorica Chelban, Valentina Turchetti, Barbara Vona, Vera Tadic, Henry Houlden, Alexander Münchau, Katja Lohmann

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Complexity of the Genetics and Clinical Presentation of Spinocerebellar Ataxia 17 by Suran Nethisinghe, Wei N. Lim, Heather Ging, Anna Zeitlberger, Rosella Abeti, Sally Pemble, Mary G. Sweeney, Robyn Labrum, Charisse Cervera, Henry Houlden, Henry Houlden, Elisabeth Rosser, Patricia Limousin, Angus Kennedy, Michael P. Lunn, Kailash P. Bhatia, Nicholas W. Wood, John Hardy, John Hardy, James M. Polke, Liana Veneziano, Alfredo Brusco, Alfredo Brusco, Mary B. Davis, Paola Giunti

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