Robin Labrum

Affiliations

Ataxia Centre, Department of Clinical and Movement Neurosciences, UCL Queen Square Institute of Neurology, London WC1N 3BG, UK.
Ataxia Centre, National Hospital for Neurology and Neurosurgery, University College London Hospitals NHS Trust, London WC1N 3BG, UK.

Publications (8)

Toward allele-specific targeting therapy and pharmacodynamic marker for spinocerebellar ataxia type 3.

Science translational medicine

Avec: Mercedes Prudencio , Hector Garcia-Moreno , Karen R Jansen-West , Rana Hanna Al-Shaikh , Tania F Gendron , Michael G Heckman , Matthew R Spiegel , Yari Carlomagno , Lillian M Daughrity , Yuping Song , Judith A Dunmore , Natalie Byron , Björn Oskarsson , Katharine A Nicholson , Nathan P Staff , Sorina Gorcenco , Andreas Puschmann , João Lemos , Cristina Januário , Mark S LeDoux , Joseph H Friedman , James Polke , Robin Labrum , Vikram Shakkottai , Hayley S McLoughlin , Henry L Paulson , Takuya Konno , Osamu Onodera , Takeshi Ikeuchi , Mari Tada , Akiyoshi Kakita , John D Fryer , Christin Karremo , Inês Gomes , John N Caviness , Mark R Pittelkow , Jan Aasly , Ronald F Pfeiffer , Venka Veerappan , Eric R Eggenberger , William D Freeman , Josephine F Huang , Ryan J Uitti , Klaas J Wierenga , Iris V Marin Collazo , Philip W Tipton , Jay A van Gerpen , Marka van Blitterswijk , Guojun Bu , Zbigniew K Wszolek , Paola Giunti , Leonard Petrucelli

Mitochondrial DNA Analysis from Exome Sequencing Data Improves Diagnostic Yield in Neurological Diseases.

Annals of neurology

Avec: 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 , Auteur inconnu , Anthony A Amato , Allison Gregory , Susan J Hayflick , Auteur inconnu , Hallgeir Jonvik , Nicholas Wood , Henry Houlden , Jana Vandrovcova , Michael G Hanna , Alan Pittman , Robert D S Pitceathly

Interruptions of the

International journal of molecular sciences

Avec: Suran Nethisinghe , Maheswaran Kesavan , Heather Ging , Robyn Labrum , James M Polke , Saiful Islam , Hector Garcia-Moreno , Martina F Callaghan , Francesca Cavalcanti , Mark A Pook , Paola Giunti

Parkinson's families project: a UK-wide study of early onset and familial Parkinson's disease.

NPJ Parkinson's disease

Avec: 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 , Auteur inconnu , Auteur inconnu , Andrew B Singleton , Cornelis Blauwendraat , Christine Klein , Henry Houlden , Nicholas W Wood , Paul R Jarman , Huw R Morris , Raquel Real

Prediction of Survival With Long-Term Disease Progression in Most Common Spinocerebellar Ataxia.

Movement disorders : official journal of the Movement Disorder Society

Avec: Alhassane Diallo , Heike Jacobi , Arron Cook , Paola Giunti , Michael H Parkinson , Robyn Labrum , Alexandra Durr , Alexis Brice , Perrine Charles , Cecilia Marelli , Caterina Mariotti , Lorenzo Nanetti , Marta Panzeri , Anna Castaldo , Maria Rakowicz , Rafal Rola , Anna Sulek , Tanja Schmitz-Hübsch , Ludger Schöls , Holger Hengel , Laszlo Baliko , Bela Melegh , Alessandro Filla , Antonella Antenora , Jon Infante , José Berciano , Bart P van de Warrenburg , Dagmar Timmann , Sylvia Boesch , Wolfgang Nachbauer , Massimo Pandolfo , Jörg B Schulz , Peter Bauer , Kang Jun-Suk , Thomas Klockgether , Sophie Tezenas du Montcel

Specialist multidisciplinary input maximises rare disease diagnoses from whole genome sequencing.

Nature communications

Avec: William L Macken , Micol Falabella , Caroline McKittrick , Chiara Pizzamiglio , Rebecca Ellmers , Kelly Eggleton , Cathy E Woodward , Yogen Patel , Robyn Labrum , Auteur inconnu , 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

Genetic testing for mitochondrial disease: the United Kingdom best practice guidelines.

European journal of human genetics : EJHG

Avec: Eleni Mavraki , Robyn Labrum , Kate Sergeant , Charlotte L Alston , Cathy Woodward , Conrad Smith , Charlotte V Y Knowles , Yogen Patel , Philip Hodsdon , Jack P Baines , Emma L Blakely , James Polke , Robert W Taylor , Carl Fratter

Biallelic PTPMT1 variants disrupt cardiolipin metabolism and lead to a neurodevelopmental syndrome.

Brain : a journal of neurology

Avec: 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 , Semra Hiz , Yavuz Oktay , Maha S Zaki , Rita Horvath , Julien Prudent , Robert D S Pitceathly

Réseau de co-auteurs

Robyn Labrum 7 collaborations

None None 5 collaborations

Henry Houlden 4 collaborations

James Polke 3 collaborations

Paola Giunti 3 collaborations

Chiara Pizzamiglio 3 collaborations

Micol Falabella 3 collaborations

William L Macken 3 collaborations

Cathy E Woodward 3 collaborations

Jana Vandrovcova 3 collaborations

Michael G Hanna 3 collaborations

Robert D S Pitceathly 3 collaborations

Hector Garcia-Moreno 2 collaborations

Enrico Bugiardini 2 collaborations

Reza Maroofian 2 collaborations

Yogen Patel 2 collaborations

Charlotte L Alston 2 collaborations

Robert W Taylor 2 collaborations

Mercedes Prudencio 1 collaboration

Karen R Jansen-West 1 collaboration

Rana Hanna Al-Shaikh 1 collaboration

Tania F Gendron 1 collaboration

Michael G Heckman 1 collaboration

Matthew R Spiegel 1 collaboration

Yari Carlomagno 1 collaboration

Lillian M Daughrity 1 collaboration

Yuping Song 1 collaboration

Judith A Dunmore 1 collaboration

Natalie Byron 1 collaboration

Björn Oskarsson 1 collaboration

Katharine A Nicholson 1 collaboration

Nathan P Staff 1 collaboration

Sorina Gorcenco 1 collaboration

Andreas Puschmann 1 collaboration

João Lemos 1 collaboration

Cristina Januário 1 collaboration

Mark S LeDoux 1 collaboration

Joseph H Friedman 1 collaboration

Vikram Shakkottai 1 collaboration

Hayley S McLoughlin 1 collaboration

Henry L Paulson 1 collaboration

Takuya Konno 1 collaboration

Osamu Onodera 1 collaboration

Takeshi Ikeuchi 1 collaboration

Mari Tada 1 collaboration

Akiyoshi Kakita 1 collaboration

John D Fryer 1 collaboration

Christin Karremo 1 collaboration

Inês Gomes 1 collaboration

John N Caviness 1 collaboration

Mark R Pittelkow 1 collaboration

Jan Aasly 1 collaboration

Ronald F Pfeiffer 1 collaboration

Venka Veerappan 1 collaboration

Eric R Eggenberger 1 collaboration

William D Freeman 1 collaboration

Josephine F Huang 1 collaboration

Ryan J Uitti 1 collaboration

Klaas J Wierenga 1 collaboration

Iris V Marin Collazo 1 collaboration

Philip W Tipton 1 collaboration

Jay A van Gerpen 1 collaboration

Marka van Blitterswijk 1 collaboration

Guojun Bu 1 collaboration

Zbigniew K Wszolek 1 collaboration

Leonard Petrucelli 1 collaboration

Olivia V Poole 1 collaboration

David Murphy 1 collaboration

Stephanie Efthymiou 1 collaboration

Vincenzo Salpietro 1 collaboration

Viorica Chelban 1 collaboration

Rauan Kaiyrzhanov 1 collaboration

Anthony A Amato 1 collaboration

Allison Gregory 1 collaboration

Susan J Hayflick 1 collaboration

Hallgeir Jonvik 1 collaboration

Nicholas Wood 1 collaboration

Alan Pittman 1 collaboration

Suran Nethisinghe 1 collaboration

Maheswaran Kesavan 1 collaboration

Heather Ging 1 collaboration

James M Polke 1 collaboration

Saiful Islam 1 collaboration

Martina F Callaghan 1 collaboration

Francesca Cavalcanti 1 collaboration

Mark A Pook 1 collaboration

Clodagh Towns 1 collaboration

Zih-Hua Fang 1 collaboration

Manuela M X Tan 1 collaboration

Simona Jasaityte 1 collaboration

Theresa M Schmaderer 1 collaboration

Eleanor J Stafford 1 collaboration

Miriam Pollard 1 collaboration

Russel Tilney 1 collaboration

Megan Hodgson 1 collaboration

Lesley Wu 1 collaboration

Jason Hehir 1 collaboration

Lara M Lange 1 collaboration

Anthony H V Schapira 1 collaboration

Kailash P Bhatia 1 collaboration

Andrew B Singleton 1 collaboration

Cornelis Blauwendraat 1 collaboration

Christine Klein 1 collaboration

Nicholas W Wood 1 collaboration

Paul R Jarman 1 collaboration

Huw R Morris 1 collaboration

Raquel Real 1 collaboration

Alhassane Diallo 1 collaboration

Heike Jacobi 1 collaboration

Arron Cook 1 collaboration

Michael H Parkinson 1 collaboration

Alexandra Durr 1 collaboration

Alexis Brice 1 collaboration

Perrine Charles 1 collaboration

Cecilia Marelli 1 collaboration

Caterina Mariotti 1 collaboration

Lorenzo Nanetti 1 collaboration

Marta Panzeri 1 collaboration

Anna Castaldo 1 collaboration

Maria Rakowicz 1 collaboration

Rafal Rola 1 collaboration

Anna Sulek 1 collaboration

Tanja Schmitz-Hübsch 1 collaboration

Ludger Schöls 1 collaboration

Holger Hengel 1 collaboration

Laszlo Baliko 1 collaboration

Bela Melegh 1 collaboration

Alessandro Filla 1 collaboration

Antonella Antenora 1 collaboration

Jon Infante 1 collaboration

José Berciano 1 collaboration

Bart P van de Warrenburg 1 collaboration

Dagmar Timmann 1 collaboration

Sylvia Boesch 1 collaboration

Wolfgang Nachbauer 1 collaboration

Massimo Pandolfo 1 collaboration

Jörg B Schulz 1 collaboration

Peter Bauer 1 collaboration

Kang Jun-Suk 1 collaboration

Thomas Klockgether 1 collaboration

Sophie Tezenas du Montcel 1 collaboration

Caroline McKittrick 1 collaboration

Rebecca Ellmers 1 collaboration

Kelly Eggleton 1 collaboration

Rahul Phadke 1 collaboration

Mary M Reilly 1 collaboration

Catherine DeVile 1 collaboration

Anna Sarkozy 1 collaboration

Emma Footitt 1 collaboration

James Davison 1 collaboration

Shamima Rahman 1 collaboration

Rosaline Quinlivan 1 collaboration

Eleni Mavraki 1 collaboration

Kate Sergeant 1 collaboration

Cathy Woodward 1 collaboration

Conrad Smith 1 collaboration

Charlotte V Y Knowles 1 collaboration

Philip Hodsdon 1 collaboration

Jack P Baines 1 collaboration

Emma L Blakely 1 collaboration

Carl Fratter 1 collaboration

Luis Carlos Tabara 1 collaboration

Benjamin Munro 1 collaboration

Mohamed S Abdel-Hamid 1 collaboration

Ece Sonmezler 1 collaboration

Shanti Lu 1 collaboration

Lisa Tilokani 1 collaboration

Padraig J Flannery 1 collaboration

Nina Patel 1 collaboration

Simon A S Pope 1 collaboration

Simon J R Heales 1 collaboration

Dania B H Hammadi 1 collaboration

Hanns Lochmuller 1 collaboration

Efstathia Chronopoulou 1 collaboration

Germaine Pierre 1 collaboration

Jan-Willem Taanman 1 collaboration

Semra Hiz 1 collaboration

Yavuz Oktay 1 collaboration

Maha S Zaki 1 collaboration

Rita Horvath 1 collaboration

Julien Prudent 1 collaboration