Coenzyme Q10 Levels Are Decreased in the Cerebellum of Multiple-System Atrophy Patients. by Lucia V Schottlaender, Conceição Bettencourt, Aoife P Kiely, Annapurna Chalasani, Viruna Neergheen, Janice L Holton, Iain Hargreaves, Henry Houlden

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Parkinson’s Disease in Central Asian and Transcaucasian Countries: A Review of Epidemiology, Genetics, Clinical Characteristics, and Access to Care by Rauan Kaiyrzhanov, Mie Rizig, Akbota Aitkulova, Nazira Zharkinbekova, Chingiz Shashkin, Gulnaz Kaishibayeva, Altynay Karimova, Talgat Khaibullin, Dinara Sadykova, Manizha Ganieva, Khurshidakhon Rasulova, Henry Houlden

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DNA isolation protocol effects on nuclear DNA analysis by microarrays, droplet digital PCR, and whole genome sequencing, and on mitochondrial DNA copy number estimation. by Elizabeth Nacheva, Katya Mokretar, Aynur Soenmez, Alan M Pittman, Colin Grace, Roberto Valli, Ayesha Ejaz, Selina Vattathil, Emanuela Maserati, Henry Houlden, Jan-Willem Taanman, Anthony H Schapira, Christos Proukakis

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LETM1 couples mitochondrial DNA metabolism and nutrient preference by Romina Durigon, Alice L Mitchell, Aleck WE Jones, Andreea Manole, Mara Mennuni, Elizabeth MA Hirst, Henry Houlden, Giuseppe Maragni, Serena Lattante, Paolo Niccolo’ Doronzio, Ilaria Dalla Rosa, Marcella Zollino, Ian J Holt, Antonella Spinazzola

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Characterisation and validation of insertions and deletions in 173 patient exomes. by Francesco Lescai, Silvia Bonfiglio, Chiara Bacchelli, Estelle Chanudet, Aoife Waters, Sanjay M Sisodiya, Dalia Kasperavičiūtė, Julie Williams, Denise Harold, John Hardy, Robert Kleta, Sebahattin Cirak, Richard Williams, John C Achermann, John Anderson, David Kelsell, Tom Vulliamy, Henry Houlden, Nicholas Wood, Una Sheerin, Gian Paolo Tonini, Donna Mackay, Khalid Hussain, Jane Sowden, Veronica Kinsler, Justyna Osinska, Tony Brooks, Mike Hubank, Philip Beales, Elia Stupka

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Deletion at ITPR1 underlies ataxia in mice and spinocerebellar ataxia 15 in humans. by Joyce van de Leemput, Jayanth Chandran, Melanie A Knight, Lynne A Holtzclaw, Sonja Scholz, Mark R Cookson, Henry Houlden, Katrina Gwinn-Hardy, Hon-Chung Fung, Xian Lin, Dena Hernandez, Javier Simon-Sanchez, Nick W Wood, Paola Giunti, Ian Rafferty, John Hardy, Elsdon Storey, R J McKinlay Gardner, Susan M Forrest, Elizabeth M C Fisher, James T Russell, Huaibin Cai, Andrew B Singleton

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Dopaminergic neuronal imaging in genetic Parkinson's disease: insights into pathogenesis. by Alisdair McNeill, Ruey-Meei Wu, Kai-Yuan Tzen, Patricia C Aguiar, Jose M Arbelo, Paolo Barone, Kailash Bhatia, Orlando Barsottini, Vincenzo Bonifati, Sevasti Bostantjopoulou, Rodrigo Bressan, Giovanni Cossu, Pietro Cortelli, Andre Felicio, Henrique B Ferraz, Joanna Herrera, Henry Houlden, Marcelo Hoexter, Concepcion Isla, Andrew Lees, Oswaldo Lorenzo-Betancor, Niccolo E Mencacci, Pau Pastor, Sabina Pappata, Maria Teresa Pellecchia, Laura Silveria-Moriyama, Andrea Varrone, Tom Foltynie, Anthony H V Schapira

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Parkinson’s families project: a UK-wide study of early onset and familial Parkinson’s disease by Clodagh Towns, Zih-Hua Fang, Manuela M. X. Tan, Simona Jasaityte, Theresa M. Schmaderer, Eleanor J. Stafford, Miriam Pollard, Russel Tilney, Megan Hodgson, Lesley Wu, Robyn Labrum, Jason Hehir, James Polke, Lara M. Lange, Anthony H. V. Schapira, Kailash P. Bhatia, Parkinson’s Families Project (PFP) Study Group, Global Parkinson’s Genetics Program (GP2), Andrew B. Singleton, Cornelis Blauwendraat, Christine Klein, Henry Houlden, Nicholas W. Wood, Paul R. Jarman, Huw R. Morris, Raquel Real

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G‐quadruplex‐binding small molecules ameliorate C9orf72 FTD/ALS pathology in vitro and in vivo by Roberto Simone, Rubika Balendra, Thomas G Moens, Elisavet Preza, Katherine M Wilson, Amanda Heslegrave, Nathan S Woodling, Teresa Niccoli, Javier Gilbert‐Jaramillo, Samir Abdelkarim, Emma L Clayton, Mica Clarke, Marie‐Therese Konrad, Andrew J Nicoll, Jamie S Mitchell, Andrea Calvo, Adriano Chio, Henry Houlden, James M Polke, Mohamed A Ismail, Chad E Stephens, Tam Vo, Abdelbasset A Farahat, W David Wilson, David W Boykin, Henrik Zetterberg, Linda Partridge, Selina Wray, Gary Parkinson, Stephen Neidle, Rickie Patani, Pietro Fratta, Adrian M Isaacs

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APOE genetic variability in an Egyptian cohort of PD by Eman M. Khedr, Martina B. William, Martina B. William, Aliaa A. Elhosseiny, Aliaa A. Elhosseiny, Ali Shalash, Gharib Fawi, Mohamed H. Yousef, Shaimaa El-Jaafary, Hamin Lee, Alina Jama, Mohamed Koraym, Asmaa Helmy, Yara Salah, Peter George, Nourelhoda A. Haridy, Samir Nabhan, Agsha Atputhavadivel, Sara Elfarrash, Gaafar Ragab, Gaafar Ragab, Mohamed Tharwat Hegazy, Mohamed Tharwat Hegazy, Yasmin Elsaid, Asmaa S. Gabr, Nourhan Shebl, Lobna Aly, Nesreen Abdelwahhab, Tamer M. Belal, Nehal A. B. Elsayed, Mohamed El-Gamal, Shimaa Elgamal, Salma Ragab, Jaidaa Mekky, Henry Houlden, Mie Rizig, Mohamed Salama, Mohamed Salama

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Inherited deficiency of DIAPH1 identifies a DNA double strand break repair pathway regulated by γ-actin by Beth L. Woodward, Sudipta Lahiri, Anoop S. Chauhan, Marcos Rios Garcia, Lucy E. Goodley, Thomas L. Clarke, Mohinder Pal, Angelo Agathanggelou, Satpal S. Jhujh, Anil N. Ganesh, Fay M. Hollins, Valentina Galassi Deforie, Reza Maroofian, Stephanie Efthymiou, Andrea Meinhardt, Christopher G. Mathew, Michael A. Simpson, Heather C. Mefford, Eissa A. Faqeih, Sergio D. Rosenzweig, Stefano Volpi, Gigliola Di Matteo, Caterina Cancrini, Annarita Scardamaglia, Fiona Shackley, E. Graham Davies, Shahnaz Ibrahim, Peter D. Arkwright, Maha S. Zaki, Tatjana Stankovic, A. Malcolm R. Taylor, Antonina J. Mazur, Nataliya Di Donato, Henry Houlden, Eli Rothenberg, Grant S. Stewart

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Creation of an open-access, mutation-defined fibroblast resource for neurological disease research. by Selina Wray, Matthew Self, NINDS Parkinson's Disease iPSC Consortium, NINDS Huntington's Disease iPSC Consortium, NINDS ALS iPSC Consortium, Patrick A Lewis, Jan-Willem Taanman, Natalie S Ryan, Colin J Mahoney, Yuying Liang, Michael J Devine, Una-Marie Sheerin, Henry Houlden, Huw R Morris, Daniel Healy, Jose-Felix Marti-Masso, Elisavet Preza, Suzanne Barker, Margaret Sutherland, Roderick A Corriveau, Michael D'Andrea, Anthony H V Schapira, Ryan J Uitti, Mark Guttman, Grzegorz Opala, Barbara Jasinska-Myga, Andreas Puschmann, Christer Nilsson, Alberto J Espay, Jaroslaw Slawek, Ludwig Gutmann, Bradley F Boeve, Kevin Boylan, A Jon Stoessl, Owen A Ross, Nicholas J Maragakis, Jay Van Gerpen, Melissa Gerstenhaber, Katrina Gwinn, Ted M Dawson, Ole Isacson, Karen S Marder, Lorraine N Clark, Serge E Przedborski, Steven Finkbeiner, Jeffrey D Rothstein, Zbigniew K Wszolek, Martin N Rossor, John Hardy

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A CCG expansion in ABCD3 causes oculopharyngodistal myopathy in individuals of European ancestry by Andrea Cortese, Sarah J. Beecroft, Stefano Facchini, Riccardo Curro, Macarena Cabrera-Serrano, Igor Stevanovski, Sanjog R. Chintalaphani, Hasindu Gamaarachchi, Ben Weisburd, Chiara Folland, Gavin Monahan, Carolin K. Scriba, Lein Dofash, Mridul Johari, Bianca R. Grosz, Melina Ellis, Liam G. Fearnley, Rick Tankard, Justin Read, Ashirwad Merve, Natalia Dominik, Elisa Vegezzi, Ricardo P. Schnekenberg, Gorka Fernandez-Eulate, Marion Masingue, Diane Giovannini, Martin B. Delatycki, Elsdon Storey, Mac Gardner, David J. Amor, Garth Nicholson, Steve Vucic, Robert D. Henderson, Thomas Robertson, Jason Dyke, Vicki Fabian, Frank Mastaglia, Mark R. Davis, Marina Kennerson, OPDM study group, Ros Quinlivan, Simon Hammans, Arianna Tucci, Melanie Bahlo, Catriona A. McLean, Nigel G. Laing, Tanya Stojkovic, Henry Houlden, Michael G. Hanna, Ira W. Deveson, Paul J. Lockhart, Phillipa J. Lamont, Michael C. Fahey, Enrico Bugiardini, Gianina Ravenscroft

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RNA methyltransferase SPOUT1/CENP-32 links mitotic spindle organization with the neurodevelopmental disorder SpADMiSS by Avinash V. Dharmadhikari, Maria Alba Abad, Sheraz Khan, Reza Maroofian, Tristan T. Sands, Farid Ullah, Itaru Samejima, Yanwen Shen, Martin A. Wear, Kiara E. Moore, Elena Kondakova, Natalia Mitina, Theres Schaub, Grace K. Lee, Christine H. Umandap, Sara M. Berger, Alejandro D. Iglesias, Bernt Popp, Rami Abou Jamra, Heinz Gabriel, Stefan Rentas, Alyssa L. Rippert, Christopher Gray, Kosuke Izumi, Laura K. Conlin, Daniel C. Koboldt, Theresa Mihalic Mosher, Scott E. Hickey, Dara V. F. Albert, Haley Norwood, Amy Feldman Lewanda, Hongzheng Dai, Pengfei Liu, Tadahiro Mitani, Dana Marafi, Hatice Koçak Eker, Davut Pehlivan, Jennifer E. Posey, Natalie C. Lippa, Natalie Vena, Erin L. Heinzen, David B. Goldstein, Cyril Mignot, Jean-Madeleine de Sainte Agathe, Nouriya Abbas Al-Sannaa, Mina Zamani, Saeid Sadeghian, Reza Azizimalamiri, Tahere Seifia, Maha S. Zaki, Ghada M. H. Abdel-Salam, Mohamed S. Abdel-Hamid, Lama Alabdi, Fowzan Sami Alkuraya, Heba Dawoud, Aya Lofty, Peter Bauer, Giovanni Zifarelli, Erum Afzal, Faisal Zafar, Stephanie Efthymiou, Daniel Gossett, Meghan C. Towne, Raey Yeneabat, Belen Perez-Duenas, Ana Cazurro-Gutierrez, Edgard Verdura, Veronica Cantarin-Extremera, Ana do Vale Marques, Aleksandra Helwak, David Tollervey, Sandeep N. Wontakal, Vimla S. Aggarwal, Jill A. Rosenfeld, Victor Tarabykin, Shinya Ohta, James R. Lupski, Henry Houlden, William C. Earnshaw, Erica E. Davis, A. Arockia Jeyaprakash, Jun Liao

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SLK is mutated in individuals with a neurodevelopmental disorderResearch in context by Lama Alabdi, Norah Altuwaijri, Jun-yi Zhu, Stephanie Efthymiou, Hangnoh Lee, Jianli Duan, Israa Salem, Piao Yu, Nor Linda Abdullah, Fatema Alzahrani, Qing Xu, Mashael M. Felemban, Abdullah Alfaifi, Fatima Rahman, Marilena Christoforou, Shazia Maqbool, Julian A. Martinez-Agosto, Hessa S. Alsaif, Mais Hashem, Rana Helaby, Ahood Alsulaiman, Reza Maroofian, Henry Houlden, Stefan T. Arold, Leena A. Ibrahim, Zhe Han, Fowzan S. Alkuraya, Stanislav Groppa, Blagovesta Marinova Karashova, Wolfgang Nachbauer, Sylvia Boesch, Larissa Arning, Dagmar Timmann, Bru Cormand, Belen Pérez-Dueñas, Gabriella Di Rosa, Jatinder S. Goraya, Tipu Sultan, Jun Mine, Daniela Avdjieva, Hadil Kathom, Radka Tincheva, Selina Banu, Mercedes Pineda-Marfa, Pierangelo Veggiotti, Michel D. Ferrari, Alberto Verrotti, Giangluigi Marseglia, Salvatore Savasta, Mayte García-Silva, Alfons Macaya Ruiz, Barbara Garavaglia, Eugenia Borgione, Simona Portaro, Benigno Monteagudo Sanchez, Richard Boles, Savvas Papacostas, Michail Vikelis, Eleni Zamba Papanicolaou, Efthymios Dardiotis, Shahnaz Ibrahim, Salman Kirmani, Nuzhat Noureen Rana, Osama Atawneh, George Koutsis, Marianthi Breza, Salvatore Mangano, Carmela Scuderi, Eugenia Borgione, Giovanna Morello, Tanya Stojkovic, Massimo Zollo, Gali Heimer, Yves A. Dauvilliers, Pasquale Striano, Issam Al-Khawaja, Fuad Al-Mutairi, Sherifa Ahmed Hamed, Mohamed A. Abd El Hamed, Samson Khachatryan, Ulviyya Guliyeva, Sughra Guliyeva, Kamran Salayev, Georgia Xiromerisiou, Liana Fidani, Cleanthe Spanaki, Mhammed Aguennouz, Gabriella Silvestri, Chingiz Shashkin, Nazira Zharkynbekova, Kairgali Koneyev, Abdullah Al-Ajmi, Shen-Yang Lim, Farooq Shaikh, Mohamed El Khorassani, Arn M.J.M. van den Maagdenberg, Njideka U. Okubadejo, Oluwadamilola O. Ojo, Kolawole Wahab, Abiodun H. Bello, Sanni Abubakar, Yahaya Obiabo, Ernest Nwazor, Oluchi Ekenze, Uduak Williams, Alagoma Iyagba, Lolade Taiwo, Morenikeji Komolafe, Olapeju Oguntunde, Konstantin Senkevich, Ganieva Manizha, Maksud Isrofilov, Erin Torti, Maha Zaki, Hoda Tomoum, Amira Nabil, Paola Nicolaides, Shahzad Haider, Dana Hasbini, Chadi el Alam, Mona Huneineh, Faisal Zafar, Erum Afzal, Ilyas Muhammad, Atchayaram Nalini, Sofia Bakhtaze, Shahid Baig, Ben Issa, Chahnez Triki, Mussa Bassam, Dana Craiou, Meriem Tazir, Lamia Ali Patcha, Nebal Waill Saadi, Hanene Benrhouma, Payam Saraf, Khalid Hama Salih, Awatif

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