A
Alan Pittman
Researcher at University College London
Publications - 14
Citations - 607
Alan Pittman is an academic researcher from University College London. The author has contributed to research in topics: Mitochondrial DNA & Genome-wide association study. The author has an hindex of 8, co-authored 14 publications receiving 402 citations. Previous affiliations of Alan Pittman include UCL Institute of Neurology & University of Oxford.
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Journal ArticleDOI
Mosaic RAS/MAPK variants cause sporadic vascular malformations which respond to targeted therapy
L. Al-Olabi,Satyamaanasa Polubothu,Satyamaanasa Polubothu,Katherine Dowsett,Katrina A. Andrews,Paulina Stadnik,Agnel Praveen Joseph,Rachel G. Knox,Rachel G. Knox,Alan Pittman,Graeme R. Clark,W. Baird,Neil W. Bulstrode,M. Glover,Kristiana Gordon,Darren Hargrave,Susan M Huson,Thomas S. Jacques,Gregory James,Hannah C. Kondolf,Loshan Kangesu,Kim M. Keppler-Noreuil,Amjad Khan,Marjorie J. Lindhurst,Mark H. Lipson,Sahar Mansour,Justine O'Hara,Caroline Mahon,Anda Mosica,Celia Moss,Aditi Murthy,Juling Ong,Victoria E. R. Parker,Victoria E. R. Parker,Jean-Baptiste Rivière,Julie C. Sapp,Neil J. Sebire,Rahul Shah,Branavan Sivakumar,Anna C. Thomas,Alex Virasami,Regula Waelchli,Zhiqiang Zeng,Leslie G. Biesecker,Alex M. Barnacle,Maya Topf,Robert K. Semple,Robert K. Semple,Robert K. Semple,E. Elizabeth Patton,Veronica A. Kinsler,Veronica A. Kinsler +51 more
TL;DR: These findings uncover a major cause of sporadic VMs of different clinical types and thereby offer the potential of personalized medical treatment by repurposing existing licensed cancer therapies.
Journal ArticleDOI
Mutations in the histone methyltransferase gene KMT2B cause complex early-onset dystonia
Esther Meyer,Keren J. Carss,Keren J. Carss,Julia Rankin,John M.E. Nichols,Detelina Grozeva,Agnel Praveen Joseph,Niccolo E. Mencacci,Apostolos Papandreou,Apostolos Papandreou,Joanne Ng,Joanne Ng,Serena Barral,Adeline Ngoh,Adeline Ngoh,Hilla Ben-Pazi,Michèl A.A.P. Willemsen,David Arkadir,Angela Barnicoat,Hagai Bergman,Sanjay Bhate,Amber Boys,Niklas Darin,Nicola Foulds,Nicholas Gutowski,A. Hills,Henry Houlden,Jane A. Hurst,Zvi Israel,Margaret Kaminska,Patricia Limousin,Daniel E. Lumsden,Shane McKee,Shibalik Misra,Shibalik Misra,Shekeeb S Mohammed,Shekeeb S Mohammed,Vasiliki Nakou,Joost Nicolai,Magnus Nilsson,Hardev Pall,Kathryn J. Peall,Gregory Peters,Prab Prabhakar,Miriam S. Reuter,Patrick Rump,Reeval Segel,Margje Sinnema,Martin Smith,Peter D. Turnpenny,Susan M. White,Dagmar Wieczorek,Dagmar Wieczorek,Sarah Wiethoff,Brian T. Wilson,Gidon Winter,Christopher Wragg,Simon Pope,S Heales,Deborah Morrogh,Deciphering Developmental Disorders Study,Alan Pittman,Lucinda Carr,Belén Pérez-Dueñas,Belén Pérez-Dueñas,Jean-Pierre Lin,André Reis,William A. Gahl,Camilo Toro,Kailash P. Bhatia,Nicholas W. Wood,Erik-Jan Kamsteeg,Wui K. Chong,Paul Gissen,Maya Topf,Russell C. Dale,Russell C. Dale,Jonathan R. Chubb,F Lucy Raymond,Manju A. Kurian,Manju A. Kurian +80 more
TL;DR: Heterozygous variants in the gene KMT2B are reported in 27 unrelated individuals with a complex progressive childhood-onset dystonia, often associated with a typical facial appearance and characteristic brain magnetic resonance imaging findings, and marked clinical benefit was observed following deep brain stimulation (DBS).
Journal ArticleDOI
Clinical and genetic characterization of leukoencephalopathies in adults.
David S. Lynch,Anderson Rodrigues Brandão de Paiva,Wei Jia Zhang,Enrico Bugiardini,Fernando Freua,Leandro Tavares Lucato,Lúcia Inês Macedo-Souza,Rahul Lakshmanan,Justin A. Kinsella,Aine Merwick,Alexander M. Rossor,Nin Bajaj,Brian Herron,Paul McMonagle,Patrick J. Morrison,Deborah Hughes,Alan Pittman,Matilde Laura,Mary M. Reilly,Jason D. Warren,Catherine J. Mummery,Jonathan M. Schott,Matthew Adams,Nick C. Fox,Elaine Murphy,Indran Davagnanam,Fernando Kok,Jeremy Chataway,Henry Houlden +28 more
TL;DR: Using focused and whole-exome sequencing, Lynch et al. expand the known clinical and mutational spectrum of genetic leukoencephalopathy in adulthood, and describe the frequency and clinical and radiological phenotype of the most commonly mutated genes.
Journal ArticleDOI
A comprehensive analysis of rare genetic variation in amyotrophic lateral sclerosis in the UK.
Sarah Morgan,Aleksey Shatunov,William Sproviero,Ashley R. Jones,Maryam Shoai,Deborah Hughes,Ahmad Al Khleifat,Andrea Malaspina,Karen E. Morrison,Pamela J. Shaw,Christopher Shaw,Katie Sidle,Richard W. Orrell,Pietro Fratta,John Hardy,Alan Pittman,Ammar Al-Chalabi +16 more
TL;DR: An increase in mutations within the untranslated prime regions of the genes and a greater than expected number of patients with multiple potentially pathogenic variants are reported.
Journal ArticleDOI
Variation at the TRIM11 locus modifies progressive supranuclear palsy phenotype
Edwin Jabbari,John Woodside,Manuela Tan,Maryam Shoai,Alan Pittman,Raffaele Ferrari,Kin Y. Mok,David Zhang,Regina H. Reynolds,Rohan de Silva,Rohan de Silva,Max-Joseph Grimm,Gesine Respondek,Ulrich Müller,Safa Al-Sarraj,Steve M. Gentleman,Andrew J. Lees,Thomas T. Warner,John Hardy,Tamas Revesz,Guenter U. Höglinger,Janice L. Holton,Mina Ryten,Huw R. Morris +23 more
TL;DR: A genome‐wide association study (GWAS) is performed to identify genetic determinants of PSP phenotype and its basis for clinical variation related to underlying progressive supranuclear palsy pathology is unknown.