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

Autor Burns, Joshua, Ryan, Monique M, Ouvrier, Robert A
Vydáno 2008

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

Autor Hawke, Fiona, Ryan, Monique, Ouvrier, Robert, Burns, Joshua
Vydáno 2011

Peripheral nerve disease secondary to systemic conditions in children

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

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

Autor Blyton, Fiona, Ryan, Monique M., Ouvrier, Robert A., Burns, Joshua
Vydáno 2011

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

Autor Blyton, Fiona E, Ryan, Monique M, Ouvrier, Robert A, Burns, Joshua
Vydáno 2012

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

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

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

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

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

Autor 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
Vydáno v J Neuropathol Exp Neurol (2016)

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

Autor 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.
Vydáno 2012

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

Autor 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.
Vydáno 2012

CNTNAP1 mutations cause CNS hypomyelination and neuropathy with or without arthrogryposis

Autor 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
Vydáno v Neurol Genet (2017)

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

Autor 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
Vydáno 2011

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

Autor 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 
Vydáno 2007

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

Autor 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 
Vydáno 2007

GRIN2A mutations cause epilepsy-aphasia spectrum disorders

Autor 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
Vydáno 2013

Phenotypic insights into ADCY5‐associated disease

Autor 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.
Vydáno v Mov Disord (2016)

Treatable childhood neuronopathy caused by mutations in riboflavin transporter RFVT2

Autor 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
Vydáno 2014