Robyn Labrum

Affiliations

Neurogenetics Unit, The National Hospital for Neurology and Neurosurgery, London, 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

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

Robin Labrum 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