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

av Burns, Joshua, Ryan, Monique M, Ouvrier, Robert A
Publicerad 2008

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

av Hawke, Fiona, Ryan, Monique, Ouvrier, Robert, Burns, Joshua
Publicerad 2011

Peripheral nerve disease secondary to systemic conditions in children

av Wilmshurst, Jo M., Ouvrier, Robert A., Ryan, Monique M.
I publikationen Ther Adv Neurol Disord (2019)

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

av Blyton, Fiona, Ryan, Monique M., Ouvrier, Robert A., Burns, Joshua
Publicerad 2011

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

av Blyton, Fiona E, Ryan, Monique M, Ouvrier, Robert A, Burns, Joshua
Publicerad 2012

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

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

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

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

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

av 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
I publikationen J Neuropathol Exp Neurol (2016)

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

av 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.
Publicerad 2012

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

av 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.
Publicerad 2012

CNTNAP1 mutations cause CNS hypomyelination and neuropathy with or without arthrogryposis

av 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
I publikationen Neurol Genet (2017)

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

av 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
Publicerad 2011

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

av 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 
Publicerad 2007

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

av 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 
Publicerad 2007

GRIN2A mutations cause epilepsy-aphasia spectrum disorders

av 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
Publicerad 2013

Phenotypic insights into ADCY5‐associated disease

av 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.
I publikationen Mov Disord (2016)

Treatable childhood neuronopathy caused by mutations in riboflavin transporter RFVT2

av 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
Publicerad 2014