M
Menelaos Pipis
Researcher at UCL Institute of Neurology
Publications - 17
Citations - 508
Menelaos Pipis is an academic researcher from UCL Institute of Neurology. The author has contributed to research in topics: Medicine & Biology. The author has an hindex of 5, co-authored 11 publications receiving 207 citations. Previous affiliations of Menelaos Pipis include University College London.
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Journal ArticleDOI
Cerebellar ataxia, neuropathy, vestibular areflexia syndrome due to RFC1 repeat expansion.
Andrea Cortese,Andrea Cortese,Stefano Tozza,Stefano Tozza,Wai Yan Yau,Salvatore Rossi,Salvatore Rossi,Sarah J. Beecroft,Zane Jaunmuktane,Zoe Dyer,Gianina Ravenscroft,Phillipa J. Lamont,Stuart Mossman,Andrew Chancellor,Thierry Maisonobe,Yann Péréon,Cécile Cauquil,Silvia Colnaghi,Giulia Mallucci,Riccardo Currò,Pedro J. Tomaselli,Gilbert J Thomas-Black,Roisin Sullivan,Stephanie Efthymiou,Alexander M. Rossor,Matilde Laura,Menelaos Pipis,Alejandro Horga,James M. Polke,Diego Kaski,Rita Horvath,Patrick F. Chinnery,Patrick F. Chinnery,Wilson Marques,Cristina Tassorelli,Grazia Devigili,Lea Leonardis,Nicholas W. Wood,Adolfo M. Bronstein,Paola Giunti,Stephan Züchner,Tanya Stojkovic,Nigel G. Laing,Richard Roxburgh,Henry Houlden,Mary M. Reilly +45 more
TL;DR: The full disease phenotype, including progression of ataxia, in 100 confirmed carriers of RFC1 repeat expansions is described, which should be considered in all cases of sensory ataxic neuropathy, particularly if cerebellar dysfunction, cerebellary involvement and cough coexist.
Journal ArticleDOI
Next-generation sequencing in Charcot-Marie-Tooth disease: opportunities and challenges.
TL;DR: The authors discuss the application of next-generation sequencing (NGS) to the diagnosis of CMT and present a method for incorporating NGS into CMT clinical practice and propose an algorithm for incorporating WGS into the CMT diagnostic pathway.
Journal ArticleDOI
Biallelic mutations in SORD cause a common and potentially treatable hereditary neuropathy with implications for diabetes.
Andrea Cortese,Andrea Cortese,Andrea Cortese,Yi Zhu,Adriana P. Rebelo,Sara Negri,Steve Courel,Lisa Abreu,Chelsea Bacon,Yunhong Bai,Dana M. Bis-Brewer,Enrico Bugiardini,Elena Buglo,Matt C. Danzi,Shawna M. E. Feely,Alkyoni Athanasiou-Fragkouli,Nourelhoda A Haridy,Nourelhoda A Haridy,Rosario Isasi,Alaa Khan,Matilde Laura,Stefania Magri,Menelaos Pipis,Chiara Pisciotta,Eric Powell,Alexander M. Rossor,Paola Saveri,Janet E. Sowden,Stefano Tozza,Jana Vandrovcova,Julia E. Dallman,Elena Grignani,Enrico Marchioni,Steven S. Scherer,Beisha Tang,Zhiqiang Lin,Abdullah Al-Ajmi,Rebecca Schüle,Matthis Synofzik,Thierry Maisonobe,Tanya Stojkovic,Michaela Auer-Grumbach,Mohamed A. Abdelhamed,Sherifa A. Hamed,Ruxu Zhang,Fiore Manganelli,Lucio Santoro,Franco Taroni,Davide Pareyson,Henry Houlden,David N. Herrmann,Mary M. Reilly,Michael E. Shy,R. Grace Zhai,Stephan Züchner +54 more
TL;DR: Functional studies suggest that SORD deficiency may be treatable with aldose reductase inhibitors and may contribute to a better understanding of the pathophysiology of diabetes.
Journal ArticleDOI
Charcot-Marie-Tooth disease and related disorders: an evolving landscape.
TL;DR: Recent evidence of the increasingly recognized phenotypic overlap with other neurodegenerative conditions including hereditary spastic paraplegia, hereditary ataxias and mitochondrial diseases is reviewed to highlight the importance of deep phenotyping to inform genetic diagnosis and prognosis.
Journal ArticleDOI
The integrated stress response contributes to tRNA synthetase-associated peripheral neuropathy.
Emily Spaulding,Timothy J. Hines,P. Bais,Abigail L. D. Tadenev,R. Schneider,D. Jewett,B. Pattavina,S. L. Pratt,Kathryn H. Morelli,M. G. Stum,D. P. Hill,Cédric Gobet,Menelaos Pipis,Mary M. Reilly,Matthew J. Jennings,Rita Horvath,Yunhong Bai,Michael E. Shy,Beatriz Alvarez-Castelao,Erin M. Schuman,Laurent P. Bogdanik,E. Storkebaum,R. W. Burgess,R. W. Burgess +23 more
TL;DR: For example, mutations in ubiquitously expressed transfer RNA synthetase genes cause axonal peripheral neuropathy, accounting for at least six forms of Charcot-Marie-Tooth (CMT) disease.