A. Gardiner

<i>PRRT2</i> gene mutations

A. Gardiner, Kailash P. Bhatia, María Stamelou et al. · Neurology · 2012 · 176 citations · Full text

Life Sciences, Genetics, Neurology +15

Familial <i>PRRT2</i> mutation with heterogeneous paroxysmal disorders including paroxysmal torticollis and hemiplegic migraine

Russell C. Dale, A. Gardiner, Jayne Antony et al. · Developmental Medicine & Child Neurology · 2012 · 110 citations · Full text

Life Sciences, Genetics, Neurology +12

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

Charlotte J. Sumner, Constantin d’Ydewalle, Joe Wooley et al. · The American Journal of Human Genetics · 2013 · 55 citations · Full text

Life Sciences, Genetics, Molecular Genetics +8

Clinical features of childhood‐onset paroxysmal kinesigenic dyskinesia with <scp><i>PRRT</i></scp><i>2</i> gene mutations

Laura Silveira‐Moriyama, A. Gardiner, Esther Meyer et al. · Developmental Medicine & Child Neurology · 2013 · 49 citations · Full text

Medicine, Molecular Genetics, Neurology +17

CAV3 mutations causing exercise intolerance, myalgia and rhabdomyolysis: Expanding the phenotypic spectrum of caveolinopathies

R. Scalco, A. Gardiner, Robert D. S. Pitceathly et al. · Neuromuscular Disorders · 2016 · 49 citations · Full text

Medicine, Molecular Genetics, Neurology +6