Publications by authors named "Maria C Meschini"

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Converging Role for REEP1/SPG31 in Oxidative Stress.
Valentina Naef, Maria C Meschini, Alessandra Tessa, Federica Morani, Debora Corsinovi

Int J Mol Sci· February 2023

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CLN8 is an endoplasmic reticulum cargo receptor that regulates lysosome biogenesis.
Alberto di Ronza, Lakshya Bajaj, Jaiprakash Sharma, Deepthi Sanagasetti, Parisa Lotfi, Maria Chiara Meschini

Nat Cell Biol· December 2018

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Mitochondrial dysfunction in hereditary spastic paraparesis with mutations in DDHD1/SPG28.
Andrea Mignarri, Anna Rubegni, Alessandra Tessa, Stefano Stefanucci, Alessandro Malandrini, Maria Chiara Meschini

J Neurol Sci· March 2016

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Mitochondrial respiratory chain defects in skin fibroblasts from patients with Dravet syndrome.
Stefano Doccini, Maria Chiara Meschini, Davide Mei, Renzo Guerrini, Federico Sicca

Neurol Sci· November 2015

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Additive effect of nuclear and mitochondrial mutations in a patient with mitochondrial encephalomyopathy.
Claudia Nesti, Maria Chiara Meschini, Brigitte Meunier, Michele Sacchini, Stefano Doccini

Hum Mol Genet· June 2015

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A novel SUCLA2 mutation in a Portuguese child associated with "mild" methylmalonic aciduria.
Célia Nogueira, Maria Chiara Meschini, Claudia Nesti, Paula Garcia, Luisa Diogo

J Child Neurol· February 2015

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Novel MTCYB mutation in a young patient with recurrent stroke-like episodes and status epilepticus.
Michelangelo Mancuso, Claudia Nesti, Elena Caldarazzo Ienco, Daniele Orsucci, Chiara Pizzanelli, Maria Chiara Meschini

Am J Med Genet A· November 2014

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Pseudo-dominant inheritance of a novel CTSF mutation associated with type B Kufs disease.
Roberto Di Fabio, Francesca Moro, Liliana Pestillo, Maria C Meschini, Francesco Pezzini

Neurology· November 2014

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Dopamine-agonist responsive Parkinsonism in a patient with the SANDO syndrome caused by POLG mutation.
Monica Bandettini di Poggio, Claudia Nesti, Claudio Bruno, Maria Chiara Meschini, Angelo Schenone

BMC Med Genet· October 2013

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Novel TTC19 mutation in a family with severe psychiatric manifestations and complex III deficiency.
Célia Nogueira, José Barros, Maria José Sá, Luísa Azevedo, Ricardo Taipa, Maria Chiara Meschini

Neurogenetics· May 2013

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Pontocerebellar hypoplasia type 6 caused by mutations in RARS2: definition of the clinical spectrum and molecular findings in five patients.
Denise Cassandrini, Maria Roberta Cilio, Marzia Bianchi, Mara Doimo, Martina Balestri, Maria Chiara Meschini

J Inherit Metab Dis· January 2013

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TMEM70: a mutational hot spot in nuclear ATP synthase deficiency with a pivotal role in complex V biogenesis.
Alessandra Torraco, Daniela Verrigni, Teresa Rizza, Maria Chiara Meschini, Martha Elisa Vazquez-Memije

Neurogenetics· November 2012

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Understanding pyrroline-5-carboxylate synthetase deficiency: clinical, molecular, functional, and expression studies, structure-based analysis, and novel therapy with arginine.
Diego Martinelli, Johannes Häberle, Vicente Rubio, Cecilia Giunta, Ingrid Hausser, Maria Chiara Meschini

J Inherit Metab Dis· September 2012

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TRPV4 mutations in children with congenital distal spinal muscular atrophy.
Chiara Fiorillo, Francesca Moro, Giacomo Brisca, Guja Astrea, Claudia Nesti, Maria Chiara Meschini

Neurogenetics· August 2012

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Cardiolipin content in mitochondria from cultured skin fibroblasts harboring mutations in the mitochondrial ATP6 gene.
Mohammed El-Hafidi, Maria Chiara Meschini, Teresa Rizza, Filippo M Santorelli, Enrico Bertini

J Bioenerg Biomembr· December 2011

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Progressive cavitating leukoencephalopathy associated with respiratory chain complex I deficiency and a novel mutation in NDUFS1.
Mariana Ferreira, Alessandra Torraco, Teresa Rizza, Fabiana Fattori, Maria Chiara Meschini

Neurogenetics· February 2011

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Assaying ATP synthesis in cultured cells: a valuable tool for the diagnosis of patients with mitochondrial disorders.
Teresa Rizza, Martha Elisa Vazquez-Memije, Maria Chiara Meschini, Marzia Bianchi, Giulia Tozzi

Biochem Biophys Res Commun· May 2009

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Cellular and functional analysis of four mutations located in the mitochondrial ATPase6 gene.
Martha Elisa Vazquez-Memije, Teresa Rizza, Maria Chiara Meschini, Claudia Nesti, Filippo Maria Santorelli

J Cell Biochem· April 2009

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Urine acylcarnitine analysis by ESI-MS/MS: a new tool for the diagnosis of peroxisomal biogenesis disorders.
Guglielmo Duranti, Sara Boenzi, Cristiano Rizzo, Lucilla Ravà, Vincenzo Di Ciommo, Maria Chiara Meschini

Clin Chim Acta· December 2008

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Infantile mitochondrial disorders.
Rosalba Carrozzo, Fiorella Piemonte, Alessandra Tessa, Simona Lucioli, Teresa Rizza, Maria Chiara Meschini

Biosci Rep· June 2007

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SUCLA2 mutations are associated with mild methylmalonic aciduria, Leigh-like encephalomyopathy, dystonia and deafness.
Rosalba Carrozzo, Carlo Dionisi-Vici, Ulrike Steuerwald, Simona Lucioli, Federica Deodato, Maria Chiara Meschini

Brain· March 2007

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A new method for analysis of mitochondrial DNA point mutations and assess levels of heteroplasmy.
Denise Cassandrini, Maria Grazia Calevo, Alessandra Tessa, Giovanni Manfredi, Fabiana Fattori, Maria Chiara Meschini

Biochem Biophys Res Commun· April 2006

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