Evolution of foot manifestations in children with Charcot-Marie-Tooth disease

od Burns, Joshua, Ryan, Monique M, Ouvrier, Robert A
Izdano 2008

Calf cramp in children with Charcot-Marie-Tooth disease: searching for therapeutic targets

od Hawke, Fiona, Ryan, Monique, Ouvrier, Robert, Burns, Joshua
Izdano 2011

Peripheral nerve disease secondary to systemic conditions in children

od Wilmshurst, Jo M., Ouvrier, Robert A., Ryan, Monique M.
izdano v Ther Adv Neurol Disord (2019)

Muscle cramp in pediatric Charcot-Marie-Tooth disease type 1A: Prevalence and predictors

od Blyton, Fiona, Ryan, Monique M., Ouvrier, Robert A., Burns, Joshua
Izdano 2011

Correlates of calf cramp in children with Charcot-Marie-Tooth disease

od Blyton, Fiona E, Ryan, Monique M, Ouvrier, Robert A, Burns, Joshua
Izdano 2012

Mutations in RARS cause a hypomyelination disorder akin to Pelizaeus–Merzbacher disease

od Nafisinia, Michael, Sobreira, Nara, Riley, Lisa, Gold, Wendy, Uhlenberg, Birgit, Weiß, Claudia, Boehm, Corinne, Prelog, Kristina, Ouvrier, Robert, Christodoulou, John
izdano v Eur J Hum Genet (2017)

A Novel Syndrome of Episodic Muscle Weakness Maps to Xp22.3

od Ryan, Monique M., Taylor, Peter, Donald, Jennifer A., Ouvrier, Robert A., Morgan, Graeme, Danta, Gytis, Buckley, Michael F., North, Kathryn N.
Izdano 1999

Contactin-Associated Protein 1 (CNTNAP1) Mutations Induce Characteristic Lesions of the Paranodal Region

od Vallat, Jean-Michel, Nizon, Mathilde, Magee, Alex, Isidor, Bertrand, Magy, Laurent, Péréon, Yann, Richard, Laurence, Ouvrier, Robert, Cogné, Benjamin, Devaux, Jérôme, Zuchner, Stephan, Mathis, Stéphane
izdano v J Neuropathol Exp Neurol (2016)

Symmetry of foot alignment and ankle flexibility in paediatric Charcot-Marie-Tooth disease

od Burns, Joshua, Ouvrier, Robert, Estilow, Tim, Shy, Rosemary, Laurá, Matilde, Eichinger, Kate, Muntoni, Francesco, Reilly, Mary M., Pareyson, Davide, Acsadi, Gyula, Shy, Michael E., Finkel, Richard S.
Izdano 2012

Validation of the CMT Pediatric Scale as an outcome measure of disability

od Burns, Joshua, Ouvrier, Robert, Estilow, Tim, Shy, Rosemary, Laurá, Matilde, Pallant, Julie F., Lek, Monkol, Muntoni, Francesco, Reilly, Mary M., Pareyson, Davide, Acsadi, Gyula, Shy, Michael E., Finkel, Richard S.
Izdano 2012

CNTNAP1 mutations cause CNS hypomyelination and neuropathy with or without arthrogryposis

od Hengel, Holger, Magee, Alex, Mahanjah, Muhammad, Vallat, Jean-Michel, Ouvrier, Robert, Abu-Rashid, Mohammad, Mahamid, Jamal, Schüle, Rebecca, Schulze, Martin, Krägeloh-Mann, Ingeborg, Bauer, Peter, Züchner, Stephan, Sharkia, Rajech, Schöls, Ludger
izdano v Neurol Genet (2017)

Development, reliability and validity of the Charcot-Marie-Tooth disease Pediatric Scale (CMTPedS)

od Burns, Joshua, Finkel, Richard, Estilow, Tim, Hiscock, Andy, Laura, Matilde, Swingle, Polly, Patzko, Agnes, Glanzman, Allan, Acsadi, Gyula, Muntoni, Francesco, Reilly, Mary, Pareyson, Davide, Moroni, Isabella, Pagliano, Emanuela, Ramchandren, Sindhu, Eichinger, Kate, Ryan, Monique, Ouvrier, Robert, Shy, Michael, Shy, Rosemary
Izdano 2011

Arts Syndrome Is Caused by Loss-of-Function Mutations in PRPS1

od de Brouwer, Arjan P. M. , Williams, Kelly L. , Duley, John A. , van Kuilenburg, André B. P. , Nabuurs, Sander B. , Egmont-Petersen, Michael , Lugtenberg, Dorien , Zoetekouw, Lida , Banning, Martijn J. G. , Roeffen, Melissa , Hamel, Ben C. J. , Weaving, Linda , Ouvrier, Robert A. , Donald, Jennifer A. , Wevers, Ron A. , Christodoulou, John , van Bokhoven, Hans 
Izdano 2007

Peripheral Nerve Demyelination Caused by a Mutant Rho GTPase Guanine Nucleotide Exchange Factor, Frabin/FGD4

od Stendel, Claudia , Roos, Andreas , Deconinck, Tine , Pereira, Jorge , Castagner, François , Niemann, Axel , Kirschner, Janbernd , Korinthenberg, Rudolf , Ketelsen, Uwe-Peter , Battaloglu, Esra , Parman, Yesim , Nicholson, Garth , Ouvrier, Robert , Seeger, Jürgen , Jonghe, Peter De , Weis, Joachim , Krüttgen, Alexander , Rudnik-Schöneborn, Sabine , Bergmann, Carsten , Suter, Ueli , Zerres, Klaus , Timmerman, Vincent , Relvas, João B. , Senderek, Jan 
Izdano 2007

GRIN2A mutations cause epilepsy-aphasia spectrum disorders

od Carvill, Gemma L, Regan, Brigid M, Yendle, Simone C, O’Roak, Brian J, Lozovaya, Natalia, Bruneau, Nadine, Burnashev, Nail, Khan, Adiba, Cook, Joseph, Geraghty, Eileen, Sadleir, Lynette G, Turner, Samantha J, Tsai, Meng-Han, Webster, Richard, Ouvrier, Robert, Damiano, John A, Berkovic, Samuel F, Shendure, Jay, Hildebrand, Michael S, Szepetowski, Pierre, Scheffer, Ingrid E, Mefford, Heather C
Izdano 2013

Phenotypic insights into ADCY5‐associated disease

od Chang, Florence C.F., Westenberger, Ana, Dale, Russell C., Smith, Martin, Pall, Hardev S., Perez‐Dueñas, Belen, Grattan‐Smith, Padraic, Ouvrier, Robert A., Mahant, Neil, Hanna, Bernadette C., Hunter, Matthew, Lawson, John A., Max, Christoph, Sachdev, Rani, Meyer, Esther, Crimmins, Dennis, Pryor, Donald, Morris, John G.L., Münchau, Alex, Grozeva, Detelina, Carss, Keren J., Raymond, Lucy, Kurian, Manju A., Klein, Christine, Fung, Victor S.C.
izdano v Mov Disord (2016)

Treatable childhood neuronopathy caused by mutations in riboflavin transporter RFVT2

od Foley, A. Reghan, Menezes, Manoj P., Pandraud, Amelie, Gonzalez, Michael A., Al-Odaib, Ahmad, Abrams, Alexander J., Sugano, Kumiko, Yonezawa, Atsushi, Manzur, Adnan Y., Burns, Joshua, Hughes, Imelda, McCullagh, B. Gary, Jungbluth, Heinz, Lim, Ming J., Lin, Jean-Pierre, Megarbane, Andre, Urtizberea, J. Andoni, Shah, Ayaz H., Antony, Jayne, Webster, Richard, Broomfield, Alexander, Ng, Joanne, Mathew, Ann A., O’Byrne, James J., Forman, Eva, Scoto, Mariacristina, Prasad, Manish, O’Brien, Katherine, Olpin, Simon, Oppenheim, Marcus, Hargreaves, Iain, Land, John M., Wang, Min X., Carpenter, Kevin, Horvath, Rita, Straub, Volker, Lek, Monkol, Gold, Wendy, Farrell, Michael O., Brandner, Sebastian, Phadke, Rahul, Matsubara, Kazuo, McGarvey, Michael L., Scherer, Steven S., Baxter, Peter S., King, Mary D., Clayton, Peter, Rahman, Shamima, Reilly, Mary M., Ouvrier, Robert A., Christodoulou, John, Züchner, Stephan, Muntoni, Francesco, Houlden, Henry
Izdano 2014