Mutations in the ryanodine receptor gene in central core disease and malignant hyperthermia

Kathleen A. Quane, Jasmine Healy, Katherine E. Keating, +11

Nature Genetics

Malignant HyperthermiaPhysiologyPathologyCentral Core DiseaseRyanodine Receptor Gene

Ubidecarenone in the treatment of mitochondrial myopathies: a multi-center double-blind trial

Nereo Bresolin, C. Doriguzzi, Carola Ponzetto, +14

Journal of the Neurological Sciences

UrologyMulti-center Double-blind TrialMitochondrial MedicineMitochondrial MyopathiesMedicine

Free cytoplasmic Ca ⁺⁺ at rest and after cholinergic stimulus is increased in cultured muscle cells from Duchenne muscular dystrophy patients

Tiziana Mongini, Dario Ghigo, C. Doriguzzi, +5

Neurology

Muscle apoptosis in humans occurs in normal and denervated muscle, but not in myotonic dystrophy, dystrophinopathies or inflammatory disease

Antonio Migheli, Tiziana Mongini, C. Doriguzzi, +4

Neurogenetics

Mitochondrial MyopathyMuscle PathologyMuscle FunctionSkeletal MuscleMedicine +10

Exercise intolerance and recurrent myoglobinuria as the only expression of Xp21 Becker type muscular dystrophy

C. Doriguzzi, L. Palmucci, Tiziana Mongini, +3

Journal of Neurology

KinesiologyExerciseOnly ExpressionPhysiologyExercise Physiology +8

Dilating cardiomyopathy as the expression of Xp21 Becker type muscular dystrophy

L. Palmucci, C. Doriguzzi, Tiziana Mongini, +4

Journal of the Neurological Sciences

Cardiac MuscleCardiomyopathyHeart FailurePhysiologyPathology +5

A new mtDNA mutation associated with a progressive encephalopathy and cytochrome <i>c</i> oxidase deficiency

Gabriella Silvestri, Tiziana Mongini, Francesca Odoardi, +6

Neurology

Alpha-Sarcoglycan Deficiency Featuring Exercise Intolerance and Myoglobinuria

Tiziana Mongini, C. Doriguzzi, Ivana Bosone, +3

Neuropediatrics

A new method for myofibrillar Ca++-ATPase reaction based on the use of metachromatic dyes: Its advantages in muscle fibre typing

C. Doriguzzi, Tiziana Mongini, L. Palmucci, +1

Histochemistry and Cell Biology

Muscle FunctionMyofibrillar Ca++-atpase ReactionBiochemistrySkeletal MuscleBioenergetics +5

Interictal conduction slowing in muscle fibers in hypokalemic periodic paralysis

W. Troni, C. Doriguzzi, Tiziana Mongini

Neurology

Electrolyte DisorderMuscle FunctionShort HeadPeriodic ParalysisSkeletal Muscle +16