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R

Robert D. S. Pitceathly

national hospital for neurology and neurosurgery
H指数:36
被引数:3,727

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Spinal Muscular Atrophy in Adult Neurology Services in India

印度成人神经科服务中的脊髓性肌萎缩症

Clinical Genetics
IF2.3
2026-09-260
PRE
Farsana Mustafa; William L. Macken; Lindsay A. Wilson; Nimita Rani; Ayush Agarwal; Ajay Garg; Neerja Gupta; Rohit Bhatia; Roopa Rajan; Anu Gupta; Mamta Bhushan Singh; Vasantha Sarvade; Robert D. S. Pitceathly; Mary M. Reilly; Michael G. Hanna; Ashwin Dalal; Kumarasamy Thangaraj; Venugopalan Y. Vishnu
COXFA4L2 upregulation preserves residual cytochrome c oxidase activity in COXFA4-related Leigh-like encephalopathy

COXFA4L2上调在COXFA4相关 Leigh样脑病中维持残余细胞色素c氧化酶活性

Nature Communications
IF15.7
2026-05-300
OA
Micol Falabella; Sandra Lopez Calcerrada; Jana Aref; Jiaze Gao; William L. Macken; Chiara Pizzamiglio; Renata Kabiljo; Anna Lucia Francavilla; Pauline Gaignard; Antoine Pouzet; Jonathan Levy; Giulia Barcia; Jamie K. Leighton; Efstathia Chronopoulou; Germaine Pierre; Riza Köksal Özgül; Ali Dursun; Rebecca Halligan; Helen Mundy; Javeria Raza Alvi; Tipu Sultan; William James Craigen; Lisa Emrick; Jill A. Rosenfeld; Gehad Elmakkawy; JiHye Kim; Joseph J. Gleeson; Aboulfazl Rad; Gabriela Oprea; Maqbool Hussain; Khalil Ur Rehman; Sadia Riaz; Robert W. Taylor; Vincent Procaccio; Maha S. Zaki; Erika Fernandez-Vizarra; Ciro Leonardo Pierri; Michael G. Hanna; Henry Houlden; Reza Maroofian; Cristina Ugalde; Jan-Willem Taanman; Robert D. S. Pitceathly
Diagnostic Criteria and Management of MELAS and Stroke-Like Episodes: Consensus-Based Statements

MELAS和卒中样发作的诊断标准与管理：基于共识的声明

European Journal of Neurology
IF3.9
2026-04-180
OAAI
Michelangelo Mancuso; Marcello Bellusci; Valerio Carelli; Irenaeus de Coo; Daria Diodato; Felix Distelmaier; Omar Hikmat; Michio Hirano; Rita Horvath; Amel Karaa; Thomas Klopstock; Mary Kay Koenig; Cornelia Kornblum; Chiara La Morgia; Piervito Lopriore; Mika Henrik Martikainen; Robert McFarland; Olimpia Musumeci; Robert D. S. Pitceathly; Guido Primiano; Shamima Rahman; Fernando Scaglia; Andrew Schaefer; Manuel Schiff; Luisa Semmler; Costanza Lamperti; Serenella Servidei
A stress-adapted fiber state promotes clonal expansion of deleted mitochondrial DNA

应激适应的纤维状态促进缺失型线粒体DNA的克隆性扩增

Cell Reports
IF6.9
2026-01-010
OA
Diego Pérez‐Rodríguez; Ilaria Dalla Rosa; Anastasia Magoulopoulou; Sara Ricciardi; Samantha Davidson; Rebecca Lasalandra; Renata Kabiljo; Aine Moylett; Tamara L. Hill; Tengfei Wan; Aleck W.E. Jones; Chloe F. Moss; Charlotte Zierz; Melissa L. Salazar; Radha Desai; Shar-Yin Naomi Huang; Yves Pommier; Monika Hofer; Robert D. S. Pitceathly; Martin A.M. Reijns; Joanna Poulton; Christos Proukakis; J. Paul Simons; Mats F. Nilsson; Robert W. Taylor; Ian James Holt; Antonella Spinazzola
Acute-onset axonal neuropathy following infection in children with biallelic RCC1 variants: a case series

儿童中biallelic RCC1变异者在感染后出现的急性起病轴索神经病：一个病例系列

lancet neurology
IF0
2025-07-160
OAAI
J Robert Harkness; John H McDermott; Shea Marsden; Peter Jamieson; Kay A Metcalfe; Naz Khan; William L Macken; Robert D S Pitceathly; Christopher J Record; Reza Maroofian; Kleopas Kleopa; Kyproula Christodoulou; Ataf Sabir; Lily Islam; Saikat Santra; Enise Avci Durmusalioglu; Tahir Atik; Esra Isik; Ozgur Cogulu; Jill E Urquhart; Glenda M Beaman; Leigh A Demain; Adam Jackson; Alexander J M Blakes; Helen J Byers; Hayley Bennett; Wei-Hsiang Lin; Antony Adamson; Sanjai Patel; Wyatt W Yue; Robert W Taylor; Janine Reunert; Thorsten Marquardt; Rebecca Buchert; Tobias Haack; Heike Losch; Lukas Ryba; Petra Lassuthova; Radka Valkovičová; Jana Haberlová; Barbora Lauerová; Eva Trúsiková; Kiran Polavarapu; Ozge Aksel Kilicarslan; Hanns Lochmüller; Mina Zamani; Niloofar Chamanrou; Gholamreza Shariati; Saeid Sadeghian; Reza Azizimalamiri; Sateesh Maddirevula; Muhammad AlMuhaizea; Fowzan S Alkuraya; Rita Horvath; Serdal Gungor; Adnan Manzur; Pinki Munot; Rachael Matthews; Siddharth Banka; Mary M Reilly; Daimark Bennett; Raymond T O’Keefe; William G Newman
Kennedy's disease from India: An Indian Cohort with multisystemic manifestations

肯尼迪病在印度：一个具有多系统表现的印度队列

JOURNAL OF NEUROMUSCULAR DISEASES
IF3.4
2025-05-050
PRE
Gomathy, Saranya B.; Macken, William L.; Rani, Nimita; Agarwal, Ayush; Singh, Rakesh; Dhamne, Megha; Nair, Sruthi S.; Reyaz, Alisha; Ahmed, Tanveer; Dalal, Ashwin; Muthulakshmi, Mayandi; Wilson, Lindsay; Vijayaraghavan, Asish; Bhatia, Rohit; Pitceathly, Robert D. S.; Thangaraj, Kumarasamy; Srivastava, Padma M., V; Hanna, Michael G.; Vishnu, Venugopalan Y.
Activating AMPK improves pathological phenotypes due to mtDNA depletion
FEBS JOURNAL
IF4.2
2025-02-070
OA
Carvalho, Gustavo; Nguyen, Tran V. H.; Repoles, Bruno; Forslund, Josefin M. E.; Wijethunga, W. M. Ruchitha Rukmal; Ranjbarian, Farahnaz; Mendes, Isabela C.; Gorospe, Choco Michael; Chaudhari, Namrata; Falabella, Micol; Doimo, Mara; Wanrooij, Sjoerd; Pitceathly, Robert D. S.; Hofer, Anders; Wanrooij, Paulina H.
Inhibition of the PI3K-AKT-MTORC1 axis reduces the burden of the m.3243A>G mtDNA mutation by promoting mitophagy and improving mitochondrial function

抑制PI3K-AKT-MTORC1轴通过促进线粒体吞噬和改善线粒体功能来减轻m.3243A>G mtDNA突变的负担

AUTOPHAGY
IF14.3
2024-12-120
OAAI
Chung, Chih-Yao; Singh, Kritarth; Sheshadri, Preethi; Valdebenito, Gabriel E.; Chacko, Anitta R.; Besada, Maria Alicia Costa; Liang, Xiao Fei; Kabir, Lida; Pitceathly, Robert D. S.; Szabadkai, Gyorgy; Duchen, Michael R.
An analysis of mitochondrial variation in cardiomyopathy patients from the 100,000 genomes cohort: m.4300A>G as a cause of genetically elusive hypertrophic cardiomyopathy

来自100,000基因组队列的心肌病患者的线粒体变异分析: m.4300A>G是遗传上难以捉摸的肥厚性心肌病的原因

HUMAN GENOMICS
IF4.3
2024-12-050
OAAI
Lopes, Luis R.; Macken, William L.; Du Preez, Seth; Kotwal, Huafrin; Savvatis, Konstantinos; Sekhri, Neha; Mohiddin, Saidi A.; Kabiljo, Renata; Pitceathly, Robert D. S.
Genotype-specific effects of elamipretide in patients with primary mitochondrial myopathy: a post hoc analysis of the MMPOWER-3 trial
ORPHANET JOURNAL OF RARE DISEASES
IF3.5
2024-11-211
OAAI
Karaa, Amel; Bertini, Enrico; Carelli, Valerio; Cohen, Bruce; Ennes, Gregory M.; Falk, Marni J.; Goldstein, Amy; Gorman, Grainne; Haas, Richard; Hirano, Michio; Klopstock, Thomas; Koenig, Mary Kay; Kornblum, Cornelia; Lamperti, Costanza; Lehman, Anna; Longo, Nicola; Molnar, Maria Judit; Parikh, Sumit; Phan, Han; Pitceathly, Robert D. S.; Saneto, Russekk; Scaglia, Fernando; Servidei, Serenella; Tarnopolsky, Mark; Toscano, Antonio; Van Hove, Johan L. K.; Vissing, John; Vockley, Jerry; Finman, Jeffrey S.; Abbruscato, Anthony; Brown, David A.; Sullivan, Alana; Shiffer, James A.; Mancuso, Michelango
Overcoming genetic neuromuscular diagnostic pitfalls in a middle-income country
BRAIN COMMUNICATIONS
IF4.5
2024-11-140
OAAI
Frezatti, Rodrigo Siqueira Soares; Tomaselli, Pedro Jose; Record, Christopher J.; Wilson, Lindsay A.; Alves, Gustavo Maximiano; Dominik, Natalia; Efthymiou, Stephanie; Patel, Krutik; Vandrovcova, Jana; Mannikko, Roope; Pitceathly, Robert D. S.; Sobreira, Claudia Ferreira da Rosa; McFarland, Robert; Taylor, Robert W.; Houlden, Henry; Hanna, Michael G.; Reilly, Mary M.; Marques, Wilson
Mutant PTPMT1 disrupts cardiolipin metabolism and mitochondrial bioenergetics leading to a neurodevelopmental syndrome
BIOCHIMICA ET BIOPHYSICA ACTA-BIOENERGETICS
IF2.7
2024-09-010
PRE
Falabella, Micol; Pizzamiglio, Chiara; Tabara, Luis Carlos; Munro, Benjamin; Abdel-Hamid, Mohamed S.; Sonmezler, Ece; Macken, William L.; Lu, Shanti; Tilokani, Lisa; Flannery, Padraig J.; Pope, Simon A. S.; Heales, Simon J. R.; Hammadi, Dania B. H.; Alston, Charlotte L.; Taylor, Robert W.; Lochmuller, Hanns; Chronopoulou, Efstathia; Pierre, Germaine; Maroofian, Reza; Hanna, Michael G.; Taanman, Jan-Willem; Hiz, Semra; Oktay, Yavuz; Zaki, Maha S.; Horvath, Rita; Prudent, Julien; Pitceathly, Robert D. S.
Biallelic PTPMT1 variants disrupt cardiolipin metabolism and lead to a neurodevelopmental syndrome
BRAIN
IF11.7
2024-08-300
OAAI
Falabella, Micol; Pizzamiglio, Chiara; Tabara, Luis Carlos; Munro, Benjamin; Abdel-Hamid, Mohamed S.; Sonmezler, Ece; Macken, William L.; Lu, Shanti; Tilokani, Lisa; Flannery, Padraig J.; Patel, Nina; Pope, Simon A. S.; Heales, Simon J. R.; Hammadi, Dania B. H.; Alston, Charlotte L.; Taylor, Robert W.; Lochmuller, Hanns; Woodward, Cathy E.; Labrum, Robyn; Vandrovcova, Jana; Houlden, Henry; Chronopoulou, Efstathia; Pierre, Germaine; Maroofian, Reza; Hanna, Michael G.; Taanman, Jan-Willem; Hiz, Semra; Oktay, Yavuz; Zaki, Maha S.; Horvath, Rita; Prudent, Julien; Pitceathly, Robert D. S.
Biallelic null variants in PNPLA8 cause microcephaly by reducing the number of basal radial glia

PNPLA8中的双等位基因无效变体通过减少基底radial胶质细胞的数量而引起小头畸形

BRAIN
IF11.7
2024-07-312
OAAI
Nakamura, Yuji; Shimada, Issei S.; Maroofian, Reza; Falabella, Micol; Zaki, Maha S.; Fujimoto, Masanori; Sato, Emi; Takase, Hiroshi; Aoki, Shiho; Miyauchi, Akihiko; Koshimizu, Eriko; Miyatake, Satoko; Arioka, Yuko; Honda, Mizuki; Higashi, Takayoshi; Miya, Fuyuki; Okubo, Yukimune; Ogawa, Isamu; Scardamaglia, Annarita; Miryounesi, Mohammad; Alijanpour, Sahar; Ahmadabadi, Farzad; Herkenrath, Peter; Dafsari, Hormos Salimi; Velmans, Clara; Al Balwi, Mohammed; Vitobello, Antonio; Denomme-Pichon, Anne-Sophie; Jeanne, Mederic; Civit, Antoine; Abdel-Hamid, Mohamed S.; Naderi, Hamed; Darvish, Hossein; Bakhtiari, Somayeh; Kruer, Michael C.; Carroll, Christopher J.; Karimiani, Ehsan Ghayoor; Khailany, Rozhgar A.; Abdulqadir, Talib Adil; Ozaslan, Mehmet; Bauer, Peter; Zifarelli, Giovanni; Seifi, Tahere; Zamani, Mina; Al Alam, Chadi; Alvi, Javeria Raza; Sultan, Tipu; Efthymiou, Stephanie; Pope, Simon A. S.; Haginoya, Kazuhiro; Matsunaga, Tamihide; Osaka, Hitoshi; Matsumoto, Naomichi; Ozaki, Norio; Ohkawa, Yasuyuki; Oki, Shinya; Tsunoda, Tatsuhiko; Pitceathly, Robert D. S.; Taketomi, Yoshitaka; Houlden, Henry; Murakami, Makoto; Kato, Yoichi; Saitoh, Shinji
De novo variants in ATXN7L3 lead to developmental delay, hypotonia and distinctive facial features
BRAIN
IF11.7
2024-05-161
OA
Harel, Tamar; Spicher, Camille; Scheer, Elisabeth; Buchan, Jillian G.; Cech, Jennifer; Folland, Chiara; Frey, Tanja; Holtz, Alexander M.; Innes, A. Micheil; Keren, Boris; Macken, William L.; Marcelis, Carlo; Otten, Catherine E.; Paolucci, Sarah A.; Petit, Florence; Pfundt, Rolph; Pitceathly, Robert D. S.; Rauch, Anita; Ravenscroft, Gianina; Sanchev, Rani; Steindl, Katharina; Tammer, Femke; Tyndall, Amanda; Devys, Didier; Vincent, Stephane D.; Elpeleg, Orly; Tora, Laszlo
Neuromuscular disease genetics in under-represented populations: increasing data diversity
BRAIN
IF11.7
2023-07-308
OAAI
Wilson, Lindsay A.; Macken, William L.; Perry, Luke D.; Record, Christopher J.; Schon, Katherine; Frezatti, Rodrigo S. S.; Raga, Sharika; Naidu, Kireshnee; Koken, Ozlem Yayici; Polat, Ipek; Kapapa, Musambo M.; Dominik, Natalia; Efthymiou, Stephanie; Morsy, Heba; Nel, Melissa; Fassad, Mahmoud R.; Gao, Fei; Patel, Krutik; Schoonen, Maryke; Bisschoff, Michelle; Vorster, Armand; Jonvik, Hallgeir; Human, Ronel; Lubbe, Elsa; Nonyane, Malebo; Vengalil, Seena; Nashi, Saraswati; Srivastava, Kosha; Lemmers, Richard J. L. F.; Reyaz, Alisha; Mishra, Rinkle; Topf, Ana; Trainor, Christina I.; Steyn, Elizabeth C.; Mahungu, Amokelani C.; van der Vliet, Patrick J.; Ceylan, Ahmet Cevdet; Hiz, A. Semra; Cavdarli, Busranur; Gunduz, C. Nur Semerci; Ceylan, Gulay Gulec; Nagappa, Madhu; Tallapaka, Karthik B.; Govindaraj, Periyasamy; van der Maarel, Silvere M.; Narayanappa, Gayathri; Nandeesh, Bevinahalli N.; Somwe, Somwe Wa; Bearden, David R.; Kvalsund, Michelle P.; Ramdharry, Gita M.; Oktay, Yavuz; Yis, Uluc; Topaloglu, Haluk; Sarkozy, Anna; Bugiardini, Enrico; Henning, Franclo; Wilmshurst, Jo M.; Heckmann, Jeannine M.; McFarland, Robert; Taylor, Robert W.; Smuts, Izelle; van der Westhuizen, Francois H.; da Rosa Sobreira, Claudia Ferreira; Tomaselli, Pedro J.; Marques, Wilson, Jr.; Bhatia, Rohit; Dalal, Ashwin; Srivastava, M. V. Padma; Yareeda, Sireesha; Nalini, Atchayaram; Vishnu, Venugopalan Y.; Thangaraj, Kumarasamy; Straub, Volker; Horvath, Rita; Chinnery, Patrick F.; Pitceathly, Robert D. S.; Muntoni, Francesco; Houlden, Henry; Vandrovcova, Jana; Reilly, Mary M.; Hanna, Michael G.
Efficacy and Safety of Elamipretide in Individuals With Primary Mitochondrial Myopathy The MMPOWER-3 Randomized Clinical Trial
NEUROLOGY
IF8.5
2023-07-1820
OAAI
Karaa, Amel; Bertini, Enrico; Carelli, Valerio; Cohen, Bruce H.; Enns, Gregory M.; Falk, Marni J.; Goldstein, Amy; Gorman, Grainne Siobhan; Haas, Richard; Hirano, Michio; Klopstock, Thomas; Koenig, Mary Kay; Kornblum, Cornelia; Lamperti, Costanza; Lehman, Anna; Longo, Nicola; Molnar, Maria Judit; Parikh, Sumit; Phan, Han; Pitceathly, Robert D. S.; Saneto, Russell; Scaglia, Fernando; Servidei, Serenella; Tarnopolsky, Mark; Toscano, Antonio; Van Hove, Johan L. K.; Vissing, John; Vockley, Jerry; Finman, Jeffrey S.; Brown, David A.; Shiffer, James A.; Mancuso, Michelango

研究方向

暂未获取到该数据
M
Michael G. Hanna
H 指数:95论文数:1,628被引数:4.2万
H
Henry Houlden
H 指数:120论文数:1,507被引数:6.5万
R
Robert McFarland
H 指数:68论文数:370被引数:1.6万
C
Cathy E. Woodward
H 指数:19论文数:70被引数:1,461
E
Enrico Bugiardini
H 指数:27论文数:117被引数:2,233
R
Robert W. Taylor
H 指数:97论文数:763被引数:3.9万
R
Rahman, Shamima
H 指数:0论文数:2被引数:190
W
William L. Macken
H 指数:10论文数:33被引数:423
M
Mary M. Reilly
H 指数:81论文数:849被引数:2.3万
G
Gráinne S. Gorman
H 指数:52论文数:261被引数:1.0万