Robert D S Pitceathly (Robert Ds Pitceathly, R D S Pitceathly)

Scopus Author ID ORCID

Publication Activity (10 Years)

Years Active: 2019-2024
Publications (10 Years): 38

Top Venues

European journal of neurology

Brain : a journal of neurology

Nature communications

Nature reviews. Neurology

This page only lists publications with an associated author ORCID identifier.

Publications

Amanda J Male, Sarah L Holmes, Nehzat Koohi, Magdalena Dudziec, Michael G Hanna, Gita M Ramdharry, Chiara Pizzamiglio, Robert D S Pitceathly, Diego Kaski
A diagnostic framework to identify vestibular involvement in multi-sensory neurological disease. European journal of neurology 31 (5) (2024)
Amanda J Male, Nehzat Koohi, Sarah L Holmes, Robert D S Pitceathly, Diego Kaski
Acceptability of Audiovestibular Assessment in the Home-A Patient Survey. Audiology research 14 (3) (2024)
Tamar Harel, Camille Spicher, Elisabeth Scheer, Jillian G Buchan, Jennifer Cech, Chiara Folland, Tanja Frey, Alexander M Holtz, A Micheil Innes, Boris Keren, William L Macken, Carlo Marcelis, Catherine E Otten, Sarah A Paolucci, Florence Petit, Rolph Pfundt, Robert D S Pitceathly, Anita Rauch, Gianina Ravenscroft, Rani Sanchev, Katharina Steindl, Femke Tammer, Amanda Tyndall, Didier Devys, Stéphane D Vincent, Orly Elpeleg, Làszlò Tora
De novo variants in ATXN7L3 lead to developmental delay, hypotonia and distinctive facial features. Brain : a journal of neurology (2024)
Amanda J Male, Nehzat Koohi, Sarah L Holmes, Robert D S Pitceathly, Diego Kaski
Acceptability of Audiovestibular Assessment in the Home-A Patient Survey. Audiology research 14 (3) (2024)
Amanda J Male, Sarah L Holmes, Nehzat Koohi, Magdalena Dudziec, Michael G Hanna, Gita M Ramdharry, Chiara Pizzamiglio, Robert D S Pitceathly, Diego Kaski
A diagnostic framework to identify vestibular involvement in multi-sensory neurological disease. European journal of neurology 31 (5) (2024)
Amanda J Male, Sarah L Holmes, Nehzat Koohi, Magdalena Dudziec, Michael G Hanna, Gita M Ramdharry, Chiara Pizzamiglio, Robert D S Pitceathly, Diego Kaski
A diagnostic framework to identify vestibular involvement in multi-sensory neurological disease. European journal of neurology 31 (5) (2024)
Yuji Nakamura, Issei S Shimada, Reza Maroofian, Micol Falabella, Maha S Zaki, Masanori Fujimoto, Emi Sato, Hiroshi Takase, Shiho Aoki, Akihiko Miyauchi, Eriko Koshimizu, Satoko Miyatake, Yuko Arioka, Mizuki Honda, Takayoshi Higashi, Fuyuki Miya, Yukimune Okubo, Isamu Ogawa, Annarita Scardamaglia, Mohammad Miryounesi, Sahar Alijanpour, Farzad Ahmadabadi, Peter Herkenrath, Hormos Salimi Dafsari, Clara Velmans, Mohammed Al Balwi, Antonio Vitobello, Anne Sophie Denommé-Pichon, Médéric Jeanne, Antoine Civit, Mohamed S Abdel-Hamid, Hamed Naderi, Hossein Darvish, Somayeh Bakhtiari, Michael C Kruer, Christopher J Carroll, Ehsan Ghayoor Karimiani, Rozhgar A Khailany, Talib Adil Abdulqadir, Mehmet Ozaslan, Peter Bauer, Giovanni Zifarelli, Tahere Seifi, Mina Zamani, Chadi Al Alam, Javeria Raza Alvi, Tipu Sultan, Stephanie Efthymiou, Simon A S Pope, Kazuhiro Haginoya, Tamihide Matsunaga, Hitoshi Osaka, Naomichi Matsumoto, Norio Ozaki, Yasuyuki Ohkawa, Shinya Oki, Tatushiko Tsunoda, Robert D S Pitceathly, Yoshitaka Taketomi, Henry Houlden, Makoto Murakami, Yoichi Kato, Shinji Saitoh
Biallelic null variants in PNPLA8 cause microcephaly by reducing the number of basal radial glia. Brain : a journal of neurology (2024)
Tamar Harel, Camille Spicher, Elisabeth Scheer, Jillian G Buchan, Jennifer Cech, Chiara Folland, Tanja Frey, Alexander M Holtz, A Micheil Innes, Boris Keren, William L Macken, Carlo Marcelis, Catherine E Otten, Sarah A Paolucci, Florence Petit, Rolph Pfundt, Robert D S Pitceathly, Anita Rauch, Gianina Ravenscroft, Rani Sanchev, Katharina Steindl, Femke Tammer, Amanda Tyndall, Didier Devys, Stephane D Vincent, Orly Elpeleg, Làszlò Tora
De novo variants in ATXN7L3 lead to developmental delay, hypotonia and distinctive facial features. Brain : a journal of neurology 147 (8) (2024)
Micol Falabella, Chiara Pizzamiglio, Luis Carlos Tabara, Benjamin Munro, Mohamed S Abdel-Hamid, Ece Sonmezler, William L Macken, Shanti Lu, Lisa Tilokani, Padraig J Flannery, Nina Patel, Simon A S Pope, Simon J R Heales, Dania B H Hammadi, Charlotte L Alston, Robert W Taylor, Hanns Lochmuller, Cathy E Woodward, Robyn Labrum, Jana Vandrovcova, Henry Houlden, Efstathia Chronopoulou, Germaine Pierre, Reza Maroofian, Michael G Hanna, Jan-Willem Taanman, A Semra Hiz, Yavuz Oktay, Maha S Zaki, Rita Horvath, Julien Prudent, Robert D S Pitceathly
Biallelic PTPMT1 variants disrupt cardiolipin metabolism and lead to a neurodevelopmental syndrome. Brain : a journal of neurology (2024)
Amanda J Male, Sarah L Holmes, Nehzat Koohi, Magdalena Dudziec, Michael G Hanna, Gita M Ramdharry, Chiara Pizzamiglio, Robert D S Pitceathly, Diego Kaski
A diagnostic framework to identify vestibular involvement in multi-sensory neurological disease. European journal of neurology (2024)
Amel Karaa, Enrico Silvio Bertini, Valerio Carelli, Bruce H Cohen, Gregory M Enns, Marni J Falk, Amy Goldstein, Gráinne Siobhan Gorman, Richard Haas, Michio Hirano, Thomas Klopstock, Mary Kay Koenig, Cornelia Kornblum, Costanza Lamperti, Anna Lehman, Nicola Longo, Maria Judit Molnar, Sumit Parikh, Han Phan, Robert D S Pitceathly, Russell Saneto, Fernando Scaglia, Serenella Servidei, Mark Tarnopolsky, Antonio Toscano, Johan L K Van Hove, John Vissing, Jerry Vockley, Jeffrey S Finman, David A Brown, James A Shiffer, Michelangelo Mancuso, null null
Efficacy and Safety of Elamipretide in Individuals With Primary Mitochondrial Myopathy: The MMPOWER-3 Randomized Clinical Trial. Neurology (2023)
Lindsay A Wilson, William L Macken, Luke D Perry, Christopher J Record, Katherine R Schon, Rodrigo Siqueira Soares Frezatti, Sharika V Raga, Kireshnee Naidu, Özlem Yayıcı Köken, Ipek Polat, Musambo M Kapapa, Natalia Dominik, Stephanie Efthymiou, Heba Morsy, Melissa Nel, Mahmoud R Fassad, Fei Gao, Krutik Patel, Maryke Schoonen, Michelle Bisschoff, Armand Vorster, Hallgeir Jonvik, Ronel Human, Elsa Lubbe, Malebo Nonyane, Seena Vengalil, Saraswati Nashi, Kosha Srivastava, Richard J L F Lemmers, Alisha Reyaz, Rinkle Mishra, Ana Töpf, Christina I Trainor, Elizabeth C Steyn, Amokelani C Mahungu, Patrick J van der Vliet, Ahmet Cevdet Ceylan, A Semra Hiz, Büşranur Çavdarlı, C Nur Semerci Gündüz, Gülay Güleç Ceylan, Madhu Nagappa, Karthik B Tallapaka, Periyasamy Govindaraj, Silvère M van der Maarel, Gayathri Narayanappa, Bevinahalli N Nandeesh, Somwe Wa Somwe, David R Bearden, Michelle P Kvalsund, Gita M Ramdharry, Yavuz Oktay, Uluç Yiş, Haluk Topaloğlu, Anna Sarkozy, Enrico Bugiardini, Franclo Henning, Jo M Wilmshurst, Jeannine M Heckmann, Robert McFarland, Robert W Taylor, Izelle Smuts, Francois Hendrikus van der Westhuizen, Claudia Ferreira Da Rosa Sobreira, Pedro José Tomaselli, Wilson Marques, Rohit Bhatia, Ashwin B Dalal, M V Padma Srivastava, Sireesha Yareeda, Atchayaram Nalini, Venugopalan Yamuna Vishnu, Kumarasamy Thangaraj, Volker Straub, Rita Horvath, Patrick F Chinnery, Robert D S Pitceathly, Francesco Muntoni, Henry Houlden, Jana Vandrovcova, Mary M Reilly, Michael G Hanna
Neuromuscular disease genetics in underrepresented populations: increasing data diversity. Brain : a journal of neurology (2023)
Micol Falabella, Michal Minczuk, Michael G Hanna, Carlo Viscomi, Robert D S Pitceathly
Gene therapy for primary mitochondrial diseases: experimental advances and clinical challenges. Nature reviews. Neurology 18 (11) (2022)
Chiara Pizzamiglio, Robert D S Pitceathly, Michael P Lunn, Stefen Brady, Fabiola De Marchi, Lucia Galan, Jeannine M Heckmann, Alejandro Horga, Maria J Molnar, Acary S B Oliveira, Wladimir B V R Pinto, Guido Primiano, Ernestina Santos, Benedikt Schoser, Serenella Servidei, Paulo V Sgobbi Souza, Venugopalan Yamuna Vishnu, Michael G Hanna, Mazen M Dimachkie, Pedro M Machado, null null
Factors associated with the severity of COVID-19 outcomes in people with neuromuscular diseases: Data from the International Neuromuscular COVID-19 Registry. European journal of neurology (2022)
Chiara Pizzamiglio, Pedro M Machado, Rhys Huw Thomas, Gráinne S Gorman, Robert McFarland, Michael G Hanna, Robert D S Pitceathly, null null
COVID-19-Related Outcomes in Primary Mitochondrial Diseases: An International Study. Neurology 98 (14) (2022)
Yi Shiau Ng, Nichola Z Lax, Alasdair P Blain, Daniel Erskine, Mark R Baker, Tuomo Polvikoski, Rhys H Thomas, Christopher M Morris, Ming Lai, Roger G Whittaker, Alasdair Gebbels, Amy Winder, Julie Hall, Catherine Feeney, Maria Elena Farrugia, Claire Hirst, Mark Roberts, Charlotte Lawthom, Alexia Chrysostomou, Kevin Murphy, Tracey Baird, Paul Maddison, Callum Duncan, Joanna Poulton, Victoria Nesbitt, Michael G Hanna, Robert D S Pitceathly, Robert W Taylor, Emma L Blakely, Andrew M Schaefer, Doug M Turnbull, Robert McFarland, Gráinne S Gorman
Forecasting stroke-like episodes and outcomes in mitochondrial disease. Brain : a journal of neurology 145 (2) (2022)
William L Macken, Micol Falabella, Caroline McKittrick, Chiara Pizzamiglio, Rebecca Ellmers, Kelly Eggleton, Cathy E Woodward, Yogen Patel, Robyn Labrum, null null, Rahul Phadke, Mary M Reilly, Catherine DeVile, Anna Sarkozy, Emma Footitt, James Davison, Shamima Rahman, Henry Houlden, Enrico Bugiardini, Rosaline Quinlivan, Michael G Hanna, Jana Vandrovcova, Robert D S Pitceathly
Specialist multidisciplinary input maximises rare disease diagnoses from whole genome sequencing. Nature communications 13 (1) (2022)
Boris Pantic, Daniel Ives, Mara Mennuni, Diego Perez-Rodriguez, Uxoa Fernandez-Pelayo, Amaia Lopez de Arbina, Mikel Muñoz-Oreja, Marina Villar-Fernandez, Thanh-Mai Julie Dang, Lodovica Vergani, Iain G Johnston, Robert D S Pitceathly, Robert McFarland, Michael G Hanna, Robert W Taylor, Ian James Holt, Antonella Spinazzola
2-Deoxy-D-glucose couples mitochondrial DNA replication with mitochondrial fitness and promotes the selection of wild-type over mutant mitochondrial DNA. Nature communications 12 (1) (2021)
Biswamohan Mishra, Monica Saini, Carolynne M Docherty, Robert D S Pitceathly, Roopa Rajan, Omar Khalik Siddiqi, Gita M Ramdharry, Ajay Asranna, Pedro José Tomaselli, Allan G Kermode, Jawad A Bajwa, Divyani Garg, Venugopalan Yamuna Vishnu
Use of Twitter in Neurology: Boon or Bane? Journal of medical Internet research 23 (5) (2021)
Olivia V Poole, Chiara Pizzamiglio, David Murphy, Micol Falabella, William L Macken, Enrico Bugiardini, Cathy E Woodward, Robyn Labrum, Stephanie Efthymiou, Vincenzo Salpietro, Viorica Chelban, Rauan Kaiyrzhanov, Reza Maroofian, null null, Anthony A Amato, Allison Gregory, Susan J Hayflick, null null, Hallgeir Jonvik, Nicholas W Wood, Henry Houlden, Jana Vandrovcova, Michael G Hanna, Alan Pittman, Robert D S Pitceathly
Mitochondrial DNA Analysis from Exome Sequencing Data Improves Diagnostic Yield in Neurological Diseases. Annals of neurology 89 (6) (2021)
William L Macken, Anneke M Lucassen, Michael G Hanna, Robert D S Pitceathly
Mitochondrial DNA variants in genomic data: diagnostic uplifts and predictive implications. Nature reviews. Genetics 22 (9) (2021)
Sally A Clayton, Kalbinder K Daley, Lucy MacDonald, Erika Fernández-Vizarra, Giovanni Bottegoni, John D O'Neil, Triin Major, Daniel Griffin, Qinqin Zhuang, Adeolu Badi Adewoye, Kieran Woolcock, Simon W Jones, Carl S Goodyear, Aziza Elmesmari, Andrew Filer, Daniel A Tennant, Stefano Alivernini, Christopher Dominic Buckley, Robert D S Pitceathly, Mariola Kurowska-Stolarska, Andrew R Clark
Inflammation causes remodeling of mitochondrial cytochrome c oxidase mediated by the bifunctional gene C15orf48. Science advances 7 (50) (2021)
William L Macken, Jana Vandrovcova, Michael G Hanna, Robert D S Pitceathly
Applying genomic and transcriptomic advances to mitochondrial medicine. Nature reviews. Neurology 17 (4) (2021)
Chiara Pizzamiglio, Enrico Bugiardini, William L Macken, Cathy E Woodward, Michael G Hanna, Robert D S Pitceathly
Mitochondrial Strokes: Diagnostic Challenges and Chameleons. Genes 12 (10) (2021)
Chih-Yao Chung, Kritarth Singh, Vassilios N Kotiadis, Gabriel E Valdebenito, Jee Hwan Ahn, Emilie Topley, Joycelyn Tan, William D Andrews, Benoit Bilanges, Robert D S Pitceathly, Gyorgy Szabadkai, Mariia O Yuneva, Michael R Duchen
Constitutive activation of the PI3K-Akt-mTORC1 pathway sustains the m.3243 A > G mtDNA mutation. Nature communications 12 (1) (2021)
Robert D S Pitceathly, Nandaki Keshavan, Joyeeta Rahman, Shamima Rahman
Moving towards clinical trials for mitochondrial diseases. Journal of inherited metabolic disease 44 (1) (2020)
Enrico Bugiardini, Emanuela Bottani, Silvia Marchet, Olivia V Poole, Cristiane Benincá, Alejandro Horga, Cathy Woodward, Amanda Lam, Iain Hargreaves, Annapurna Chalasani, Alessandra Valerio, Eleonora Lamantea, Kerrie Venner, Janice L Holton, Massimo Zeviani, Henry Houlden, Rosaline Quinlivan, Costanza Lamperti, Michael G Hanna, Robert D S Pitceathly
Expanding the molecular and phenotypic spectrum of truncating MT-ATP6 mutations. Neurology. Genetics 6 (1) (2020)
Aravindhan Baheerathan, Robert D S Pitceathly, Carmel Curtis, Nicholas Ws Davies
CSF lactate. Practical neurology 20 (4) (2020)
Arumugam Paramasivam, Angamuthu K Meena, Challa Venkatapathi, Robert D S Pitceathly, Kumarasamy Thangaraj
Novel Biallelic NSUN3 Variants Cause Early-Onset Mitochondrial Encephalomyopathy and Seizures. Journal of molecular neuroscience : MN 70 (12) (2020)
Alessandro Colasanti, Enrico Bugiardini, Sami Amawi, Olivia V Poole, Iwona Skorupinska, Mariola Skorupinska, Louise Germain, Damian Kozyra, Sarah Holmes, Natalie James, Cathy E Woodward, Rosaline Mary Quinlivan, Allan H Young, Michael G Hanna, Robert D S Pitceathly
Primary mitochondrial diseases increase susceptibility to bipolar affective disorder. Journal of neurology, neurosurgery, and psychiatry 91 (8) (2020)
Olivia V Poole, Alejandro Horga, Steven A Hardy, Enrico Bugiardini, Cathy E Woodward, Iain P Hargreaves, Ashirwad Merve, Rosaline Quinlivan, Robert W Taylor, Michael G Hanna, Robert D S Pitceathly
Multisystem mitochondrial disease caused by a rare m.10038G>A mitochondrial tRNAGly (MT-TG) variant. Neurology. Genetics 6 (2) (2020)
Yi Shiau Ng, Laurence A Bindoff, Gráinne S Gorman, Rita Horvath, Thomas Klopstock, Michelangelo Mancuso, Mika H Martikainen, Robert McFarland, Victoria Nesbitt, Robert D S Pitceathly, Andrew M Schaefer, Doug M Turnbull
Consensus-based statements for the management of mitochondrial stroke-like episodes. Wellcome open research 4 (2019)
Michelle S Balaratnam, Ann Donnelly, Honey Padilla, Sara Simeoni, Sardar Bahadur, Liz Keenan, Heesook Lee, Rachel Farrell, Carmel Curtis, Robert M Brownstone, Mary Murphy, Joan Grieve, Colin Shieff, Meenakshi Nayar, Robert D S Pitceathly, Gerry Christofi, Valerie L Stevenson
Reducing Intrathecal Baclofen Related Infections: Service Evaluation and Best Practice Guidelines. Neuromodulation : journal of the International Neuromodulation Society 23 (7) (2019)
Alexander E Clout, Oscar Della Pasqua, Michael G Hanna, Robert D S Pitceathly
Drug repurposing in neurological diseases: an integrated approach to reduce trial and error. Journal of neurology, neurosurgery, and psychiatry 90 (11) (2019)
Enrico Bugiardini, Simon Pope, René Günther Feichtinger, Olivia V Poole, Alan M Pittman, Cathy E Woodward, Simon Heales, Rosaline Quinlivan, Henry Houlden, Johannes A Mayr, Michael G Hanna, Robert D S Pitceathly
Utility of Whole Blood Thiamine Pyrophosphate Evaluation in TPK1-Related Diseases. Journal of clinical medicine 8 (7) (2019)
Olivia V Poole, T Uchiyama, I Skorupinska, M Skorupinska, L Germain, D Kozyra, S Holmes, N James, E Bugiardini, C Woodward, R Quinlivan, A Emmanuel, M G Hanna, J N Panicker, Robert D S Pitceathly
Urogenital symptoms in mitochondrial disease: overlooked and undertreated. European journal of neurology 26 (8) (2019)
Alejandro Horga, Catherine E Woodward, Alberto Mills, Isabel Pareés, Iain P Hargreaves, Ruth M Brown, Enrico Bugiardini, Tony Brooks, Andreea Manole, Elena Remzova, Shamima Rahman, Mary M Reilly, Henry Houlden, Mary G Sweeney, Garry K Brown, James M Polke, Federico Gago, Matthew J Parton, Robert D S Pitceathly, Michael G Hanna
Differential phenotypic expression of a novel PDHA1 mutation in a female monozygotic twin pair. Human genetics 138 (11-12) (2019)
Yi Shiau Ng, Mika H Martikainen, Gráinne Siobhan Gorman, Alasdair Blain, Enrico Bugiardini, Apphia Bunting, Andrew M Schaefer, Charlotte L Alston, Emma L Blakely, Sunil Sharma, Imelda Hughes, Albert Lim, Christian de Goede, Meriel McEntagart, Stefan Spinty, Iain Horrocks, Mark Roberts, Cathy E Woodward, Patrick F Chinnery, Rita Horvath, Victoria Nesbitt, Carl Fratter, Joanna Poulton, Michael G Hanna, Robert D S Pitceathly, Robert W Taylor, Doug M Turnbull, Robert McFarland
Pathogenic variants in MT-ATP6: A United Kingdom-based mitochondrial disease cohort study. Annals of neurology 86 (2) (2019)

Robert D S Pitceathly.css-eqlu8i{font-size:small;padding-left:4px;} (Robert Ds Pitceathly, R D S Pitceathly)

Publication Activity (10 Years)

Top Topics

Top Venues

Robert D S Pitceathly (Robert Ds Pitceathly, R D S Pitceathly)