Literature DB >> 17376118

Mitochondrial diseases: a nosological update.

M Filosto1, M Mancuso.   

Abstract

Mitochondrial diseases are disorders caused by impairment of the mitochondrial respiratory chain, characterized by clinical-genetic heterogeneity and frequent multisystemic involvement. It is difficult to establish a precise genotype/phenotype correlation and obtain a definitive nosology. Today's genetic classification distinguishes disorders caused by defects in the mitochondrial genome (sporadic or maternally-inherited) from disorders caused by defects in the nuclear genome (autosomally-inherited). We report an updated classification, briefly review the main clinical syndromes and describe the most recent genetic knowledge.

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Year:  2007        PMID： 17376118     DOI： 10.1111/j.1600-0404.2006.00777.x

Source DB:  PubMed          Journal:  Acta Neurol Scand        ISSN： 0001-6314            Impact factor:   3.209


  14 in total

Review 1.  The role of mitochondria in neurodegenerative diseases.

Authors:  Massimiliano Filosto; Mauro Scarpelli; Maria Sofia Cotelli; Valentina Vielmi; Alice Todeschini; Valeria Gregorelli; Paola Tonin; Giuliano Tomelleri; Alessandro Padovani
Journal:  J Neurol       Date:  2011-05-22       Impact factor: 4.849

Review 2.  Recent advances in clinical neurogenetics.

Authors:  José Berciano
Journal:  J Neurol       Date:  2012-11-16       Impact factor: 4.849

3.  Muscle pain in mitochondrial diseases: a picture from the Italian network.

Authors:  Massimiliano Filosto; Stefano Cotti Piccinelli; Costanza Lamperti; Tiziana Mongini; Serenella Servidei; Olimpia Musumeci; Paola Tonin; Filippo Maria Santorelli; Costanza Simoncini; Guido Primiano; Liliana Vercelli; Anna Rubegni; Anna Galvagni; Maurizio Moggio; Giacomo Pietro Comi; Valerio Carelli; Antonio Toscano; Alessandro Padovani; Gabriele Siciliano; Michelangelo Mancuso
Journal:  J Neurol       Date:  2019-02-02       Impact factor: 4.849

4.  Mitochondria, cognitive impairment, and Alzheimer's disease.

Authors:  M Mancuso; V Calsolaro; D Orsucci; C Carlesi; A Choub; S Piazza; G Siciliano
Journal:  Int J Alzheimers Dis       Date:  2009-07-06

5.  Genetic ablation of calcium-independent phospholipase A2gamma leads to alterations in mitochondrial lipid metabolism and function resulting in a deficient mitochondrial bioenergetic phenotype.

Authors:  David J Mancuso; Harold F Sims; Xianlin Han; Christopher M Jenkins; Shao Ping Guan; Kui Yang; Sung Ho Moon; Terri Pietka; Nada A Abumrad; Paul H Schlesinger; Richard W Gross
Journal:  J Biol Chem       Date:  2007-10-08       Impact factor: 5.157

Review 6.  Is there a primary role of the mitochondrial genome in Alzheimer's disease?

Authors:  Michelangelo Mancuso; Valeria Calsolaro; Daniele Orsucci; Gabriele Siciliano; Luigi Murri
Journal:  J Bioenerg Biomembr       Date:  2009-10       Impact factor: 2.945

7.  Mitochondrial epilepsy: a cross-sectional nationwide Italian survey.

Authors:  Chiara Ticci; Federico Sicca; Anna Ardissone; Enrico Bertini; Valerio Carelli; Daria Diodato; Lidia Di Vito; Massimiliano Filosto; Chiara La Morgia; Costanza Lamperti; Diego Martinelli; Isabella Moroni; Olimpia Musumeci; Daniele Orsucci; Elia Pancheri; Lorenzo Peverelli; Guido Primiano; Anna Rubegni; Serenella Servidei; Gabriele Siciliano; Costanza Simoncini; Paola Tonin; Antonio Toscano; Michelangelo Mancuso; Filippo M Santorelli
Journal:  Neurogenetics       Date:  2020-01-03       Impact factor: 2.660

8.  Redefining phenotypes associated with mitochondrial DNA single deletion.

Authors:  Michelangelo Mancuso; Daniele Orsucci; Corrado Angelini; Enrico Bertini; Valerio Carelli; Giacomo Pietro Comi; Maria Alice Donati; Antonio Federico; Carlo Minetti; Maurizio Moggio; Tiziana Mongini; Filippo Maria Santorelli; Serenella Servidei; Paola Tonin; Antonio Toscano; Claudio Bruno; Luca Bello; Elena Caldarazzo Ienco; Elena Cardaioli; Michela Catteruccia; Paola Da Pozzo; Massimiliano Filosto; Costanza Lamperti; Isabella Moroni; Olimpia Musumeci; Elena Pegoraro; Dario Ronchi; Donato Sauchelli; Mauro Scarpelli; Monica Sciacco; Maria Lucia Valentino; Liliana Vercelli; Massimo Zeviani; Gabriele Siciliano
Journal:  J Neurol       Date:  2015-03-26       Impact factor: 4.849

9.  May "mitochondrial eve" and mitochondrial haplogroups play a role in neurodegeneration and Alzheimer's disease?

Authors:  Elena Caldarazzo Ienco; Costanza Simoncini; Daniele Orsucci; Loredana Petrucci; Massimiliano Filosto; Michelangelo Mancuso; Gabriele Siciliano
Journal:  Int J Alzheimers Dis       Date:  2011-02-22

Review 10.  Mitochondrial DNA sequence variation and neurodegeneration.

Authors:  Michelangelo Mancuso; Massimiliano Filosto; Daniele Orsucci; Gabriele Siciliano
Journal:  Hum Genomics       Date:  2008-09       Impact factor: 4.639
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