S. DiMauro

Columbia University — United States

Biochemistry, Genetics and Molecular Biology · Life Sciences

81h-index21.3kcitations286works0.02yr avg
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Research Topics

Mitochondrial Function and Pathology(167), Metabolism and Genetic Disorders(153), Glycogen Storage Diseases and Myoclonus(69), ATP Synthase and ATPases Research(47), RNA modifications and cancer(26)

Publications286 total

POMPE DISEASE AND METABOLIC DISORDERS
Neuromuscular Disorders·2019
Cerebellar ataxia and severe muscle <scp>CoQ<sub>10</sub></scp> deficiency in a patient with a novel mutation in <i><scp>ADCK3</scp></i>
Clinical Genetics·2016· 41 citedOpen Access
Subacute necrotising encephalomyelopathy (Leigh's disease; Leigh syndrome)
Journal of Neurology Neurosurgery & Psychiatry·2015· 13 citedOpen Access
Encephalomyopathies, Mitochondrial
Encyclopedia of the Neurological Sciences·2014
O.24 Loss of function of MGME1, a novel player in mitochondrial DNA replication, causes a distinct autosomal recessive mitochondrial disorder
Neuromuscular Disorders·2013· 1 cited
P.15.10 Megaconial myopathy presenting as a progressive limb-girdle myopathy
Neuromuscular Disorders·2013· 1 cited
Diseases &amp; Disorders | Luft׳s Disease
Elsevier eBooks·2013
Next-generation sequencing reveals DGUOK mutations in adult patients with mitochondrial DNA multiple deletions
Brain·2012· 97 citedOpen Access
No evidence of cognitive decline among carrier relatives of MELAS patients
Mitochondrion·2012· 1 cited
MitoExome Sequencing Reveals a Mutation in the Mitochondrial MRPL51 Gene Causing Infantile Encephalopathy (P05.139)
Neurology·2012
Muscle phosphorylase kinase deficiency
Neurology·2012· 45 cited
Natural history of MELAS associated with mitochondrial DNA m.3243A&gt;G genotype
Neurology·2011· 174 cited
Progress and problemsin muscle glycogenoses
Intellectual and developmental disabilities·2011· 3 cited
Progress and problems in muscle glycogenoses.
PubMed·2011· 39 citedOpen Access
Metabolic disorders of fetal life: Glycogenoses and mitochondrial defects of the mitochondrial respiratory chain
Seminars in Fetal and Neonatal Medicine·2011· 34 cited
Pathogenesis and treatment of mitochondrial myopathies: recent advances.
PubMed·2010· 24 citedOpen Access
Branching enzyme deficiency/glycogenosis storage disease type IV presenting as a severe congenital hypotonia: Muscle biopsy and autopsy findings, biochemical and molecular genetic studies
Neuromuscular Disorders·2010· 36 cited
P79 What modifies the clinical presentation of the common homozygous p.A467T POLG mutation?
Neuromuscular Disorders·2010
IN58-TH-03 Myopathy in metabolic disorders (carbohydrate and lipid)
Journal of the Neurological Sciences·2009
Molecular basis of infantile reversible cytochrome c oxidase deficiency myopathy
Brain·2009· 121 citedOpen Access
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Frequent Co-authors

Michio Hirano(21), Sara Shanske(20), E. Bonilla(16), Carlos T. Moraes(14), Eric A. Schon(14), Lewis P. Rowland(8), Darryl C. De Vivo(7), E. Bonilla(6), Gabriella Silvestri(6), Filippo M. Santorelli(6), Serenella Servidei(5), Ali Naini(5), Kurenai Tanji(5), H Nakase(4), Ichizo Nishino(4), Tuan Vu(4), Enzo Ricci(3), C. Angelini(3), Maria Alice Donati(3), Anne Lombès(3)