Rhabdomyolysis: a genetic perspective

Por Scalco, Renata Siciliani, Gardiner, Alice R, Pitceathly, Robert DS, Zanoteli, Edmar, Becker, Jefferson, Holton, Janice L, Houlden, Henry, Jungbluth, Heinz, Quinlivan, Ros
Publicado no Orphanet J Rare Dis (2015)

The clinical and genetic heterogeneity of paroxysmal dyskinesias

Por Gardiner, Alice R., Jaffer, Fatima, Dale, Russell C., Labrum, Robyn, Erro, Roberto, Meyer, Esther, Xiromerisiou, Georgia, Stamelou, Maria, Walker, Matthew, Kullmann, Dimitri, Warner, Tom, Jarman, Paul, Hanna, Mike, Kurian, Manju A., Bhatia, Kailash P., Houlden, Henry
Publicado no Brain (2015)

A Dominant Mutation in FBXO38 Causes Distal Spinal Muscular Atrophy with Calf Predominance

Por Sumner, Charlotte J., d’Ydewalle, Constantin, Wooley, Joe, Fawcett, Katherine A., Hernandez, Dena, Gardiner, Alice R., Kalmar, Bernadett, Baloh, Robert H., Gonzalez, Michael, Züchner, Stephan, Stanescu, Horia C., Kleta, Robert, Mankodi, Ami, Cornblath, David R., Boylan, Kevin B., Reilly, Mary M., Greensmith, Linda, Singleton, Andrew B., Harms, Matthew B., Rossor, Alexander M., Houlden, Henry
Publicado em 2013

PRRT2 gene mutations: From paroxysmal dyskinesia to episodic ataxia and hemiplegic migraine

Por Gardiner, Alice R., Bhatia, Kailash P., Stamelou, Maria, Dale, Russell C., Kurian, Manju A., Schneider, Susanne A., Wali, G.M., Counihan, Tim, Schapira, Anthony H., Spacey, Sian D., Valente, Enza-Maria, Silveira-Moriyama, Laura, Teive, Hélio A.G., Raskin, Salmo, Sander, Josemir W., Lees, Andrew, Warner, Tom, Kullmann, Dimitri M., Wood, Nicholas W., Hanna, Michael, Houlden, Henry
Publicado em 2012