Literature DB >> 6544374

Needle biopsy of skeletal muscle.

J Z Heckmatt, V Dubowitz.   

Abstract

Mesh：

Year:  1984        PMID： 6544374

Source DB:  PubMed          Journal:  Muscle Nerve        ISSN： 0148-639X            Impact factor:   3.217


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  6 in total

1.  Mutations in TTC19 cause mitochondrial complex III deficiency and neurological impairment in humans and flies.

Authors:  Daniele Ghezzi; Paola Arzuffi; Mauro Zordan; Caterina Da Re; Costanza Lamperti; Clara Benna; Pio D'Adamo; Daria Diodato; Rodolfo Costa; Caterina Mariotti; Graziella Uziel; Cristina Smiderle; Massimo Zeviani
Journal:  Nat Genet       Date:  2011-01-30       Impact factor: 38.330

2.  The mitochondrial disulfide relay system protein GFER is mutated in autosomal-recessive myopathy with cataract and combined respiratory-chain deficiency.

Authors:  Alessio Di Fonzo; Dario Ronchi; Tiziana Lodi; Elisa Fassone; Marco Tigano; Costanza Lamperti; Stefania Corti; Andreina Bordoni; Francesco Fortunato; Monica Nizzardo; Laura Napoli; Chiara Donadoni; Sabrina Salani; Francesca Saladino; Maurizio Moggio; Nereo Bresolin; Iliana Ferrero; Giacomo P Comi
Journal:  Am J Hum Genet       Date:  2009-04-30       Impact factor: 11.025

3.  Partial tandem duplication of mtDNA-tRNA(Phe) impairs mtDNA translation in late-onset mitochondrial myopathy.

Authors:  Paola Arzuffi; Costanza Lamperti; Erika Fernandez-Vizarra; Paola Tonin; Lucia Morandi; Massimo Zeviani
Journal:  Neuromuscul Disord       Date:  2012-01-09       Impact factor: 4.296

4.  Stormorken Syndrome Caused by a p.R304W STIM1 Mutation: The First Italian Patient and a Review of the Literature.

Authors:  Oscar Borsani; Daniela Piga; Stefania Costa; Alessandra Govoni; Francesca Magri; Andrea Artoni; Claudia M Cinnante; Gigliola Fagiolari; Patrizia Ciscato; Maurizio Moggio; Nereo Bresolin; Giacomo P Comi; Stefania Corti
Journal:  Front Neurol       Date:  2018-10-15       Impact factor: 4.003

5.  A novel homozygous mutation in SUCLA2 gene identified by exome sequencing.

Authors:  Costanza Lamperti; Mingyan Fang; Federica Invernizzi; Xuanzhu Liu; Hairong Wang; Qing Zhang; Franco Carrara; Isabella Moroni; Massimo Zeviani; Jianguo Zhang; Daniele Ghezzi
Journal:  Mol Genet Metab       Date:  2012-09-07       Impact factor: 4.797

6.  A homozygous mutation in LYRM7/MZM1L associated with early onset encephalopathy, lactic acidosis, and severe reduction of mitochondrial complex III activity.

Authors:  Federica Invernizzi; Marco Tigano; Cristina Dallabona; Claudia Donnini; Ileana Ferrero; Maurizio Cremonte; Daniele Ghezzi; Costanza Lamperti; Massimo Zeviani
Journal:  Hum Mutat       Date:  2013-09-23       Impact factor: 4.878
  6 in total

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