Hereditary Ferritinopathy: A Novel Mutation, Its Cellular Pathology, and Pathogenetic Insights

Michelangelo Mancuso, Guido Davidzon, Roger Kurlan, +4

Journal of Neuropathology & Experimental Neurology

Novel MutationMendelian DisorderOphthalmologyGenetic DisorderIron Metabolism +12

Mitochondrial Respiratory Chain Dysfunction in Muscle From Patients With Amyotrophic Lateral Sclerosis

V. Crugnola, Costanza Lamperti, Valeria Lucchini, +13

Archives of Neurology

Disorders of lipid metabolism in muscle

Salvatore Di Mauro, C. Trevisan, Arthur Hays

Muscle & Nerve

Mutations in the<i>SURF1</i>gene associated with Leigh syndrome and cytochrome<i>c</i>oxidase deficiency

Marie O. Péquignot, Runu Dey, Massimo Zeviani, +6

Human Mutation

Muscle carnitine deficiency and fatal cardiomyopathy

Zwi H. Hart, Chung-Ho Chang, Salvatore Di Mauro, +2

Neurology

CardiomyopathyHeart FailureCardiogenic ShockCardiovascular DiseasePhysiology +6

Muscle phosphofructokinase deficiency: Two cases with unusual polysaccharide accumulation and immunologically active enzyme protein

Dimitris P. Agamanolis, Ali Askari, Salvatore Di Mauro, +4

Muscle & Nerve

Muscle Phosphofructokinase DeficiencyNormal GlycogenBiochemistrySkeletal MuscleMedicine +12

Hepatocerebral Form of Mitochondrial DNA Depletion Syndrome

Antonella Spinazzola, René Santer, Orhan Akman, +8

Archives of Neurology

Two cases of prenatal analysis for the pathogenic T to G substitution at nucleotide 8993 in mitochondrial DNA

S. L. White, Sara Shanske, I. Biroš, +4

Prenatal Diagnosis

GeneticsGenetic EpidemiologyMolecular GeneticsDisease Gene IdentificationGenomics +19

Mitochondrial disease heterogeneity: a prognostic challenge.

Maurizio Moggio, Irene Colombo, Lorenzo Peverelli, +5

PubMed

Mitochondrial MyopathyMendelian DisorderMitochondrial FunctionMitochondrial DynamicGenetics +13

Successful treatment of hemorrhagic bullous Henoch‐Schonlein purpura with intravenous immunoglobulins

Angela Mauro, Salvatore Di Mauro, Roberto Rega, +2

Pediatric Dermatology