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List of works by Massimiliano Filosto

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Genome-wide association analyses identify new risk variants and the genetic architecture of amyotrophic lateral sclerosis

scientific article published on 25 July 2016
Infantile hepatocerebral syndromes associated with mutations in the mitochondrial DNA polymerase-gammaA.

scientific article published on 2 February 2005
Observational clinical study in juvenile-adult glycogenosis type 2 patients undergoing enzyme replacement therapy for up to 4 years.

scientific article published on 12 November 2011
A genome-wide association meta-analysis identifies a novel locus at 17q11.2 associated with sporadic amyotrophic lateral sclerosis

scientific article
The role of mitochondria in neurodegenerative diseases

scientific article published on 22 May 2011
Phenotypic heterogeneity of the 8344A>G mtDNA "MERRF" mutation

scientific article published in May 2013
Clinical and genetic heterogeneity in progressive external ophthalmoplegia due to mutations in polymerase gamma

scientific article published in September 2003
The m.3243A>G mitochondrial DNA mutation and related phenotypes. A matter of gender?

scientific article
A novel polymerase gamma mutation in a family with ophthalmoplegia, neuropathy, and Parkinsonism

scientific article published in November 2004
POLG mutations causing ophthalmoplegia, sensorimotor polyneuropathy, ataxia, and deafness

scientific article published in January 2004
Large scale genotype-phenotype analyses indicate that novel prognostic tools are required for families with facioscapulohumeral muscular dystrophy

scientific article published on 11 September 2013
Decreased platelet cytochrome c oxidase activity is accompanied by increased blood lactate concentration during exercise in patients with Alzheimer disease.

scientific article published in August 2003
Allogeneic haematopoietic stem cell transplantation for mitochondrial neurogastrointestinal encephalomyopathy

scientific article published on 10 August 2015
Clinical and biochemical improvements in a patient with MNGIE following enzyme replacement

scientific article published on 21 August 2013
Mutations in CYP2U1, DDHD2 and GBA2 genes are rare causes of complicated forms of hereditary spastic paraparesis

scientific article
Could mitochondrial haplogroups play a role in sporadic amyotrophic lateral sclerosis?

scientific article published on 01 November 2004
The genetic basis of undiagnosed muscular dystrophies and myopathies: Results from 504 patients

scientific article published on 08 June 2016
Mitochondrial myopathy of childhood associated with mitochondrial DNA depletion and a homozygous mutation (T77M) in the TK2 gene

scientific article published in July 2003
Course and management of allogeneic stem cell transplantation in patients with mitochondrial neurogastrointestinal encephalomyopathy

scientific article published on 19 June 2012
Genotype-phenotype correlation in Pompe disease, a step forward.

scientific article
Lack of paternal inheritance of muscle mitochondrial DNA in sporadic mitochondrial myopathies

scientific article published on 01 October 2003
Mitochondrial diseases: a nosological update.

scientific article published on April 2007
Progress in Enzyme Replacement Therapy in Glycogen Storage Disease Type II

scientific article published on May 2009
McArdle disease: the mutation spectrum of PYGM in a large Italian cohort

scientific article published on 01 July 2006
New motor outcome function measures in evaluation of late-onset Pompe disease before and after enzyme replacement therapy

scientific article published on June 2012
A new mutation in the mitochondrial tRNA(Ala) gene in a patient with ophthalmoplegia and dysphagia

scientific article published on 01 July 2001
Whole-blood global DNA methylation is increased in amyotrophic lateral sclerosis independently of age of onset

scientific article published on 13 November 2013
Antioxidant agents have a different expression pattern in muscle fibers of patients with mitochondrial diseases

scientific article published on 16 November 2001
Mitochondrial DNA sequence variation and neurodegeneration

scientific article (publication date: September 2008)
Antimyoclonic effect of levetiracetam in MERRF syndrome

scientific article published on 18 January 2006
Small nerve fiber pathology in critical illness

scientific article
Mitochondrial myopathy and complex III deficiency in a patient with a new stop-codon mutation (G339X) in the cytochrome b gene

scientific article (publication date: 15 May 2003)
Pitfalls in diagnosing mitochondrial neurogastrointestinal encephalomyopathy.

scientific article published on 19 April 2011
A Multicentric Prospective Incidence Study of Guillain-Barré Syndrome in Italy. The ITANG Study

scientific article published on 29 August 2015
Myoclonus in mitochondrial disorders

scientific article published on 7 February 2014
May "mitochondrial eve" and mitochondrial haplogroups play a role in neurodegeneration and Alzheimer's disease?

scientific article
LOPED study: looking for an early diagnosis in a late-onset Pompe disease high-risk population.

scientific article
Drugs and mitochondrial diseases: 40 queries and answers.

scientific article published on 31 January 2012
Current options in the treatment of mitochondrial diseases.

scientific article
Clinical, morphological and genetic studies in a cohort of 21 patients with myofibrillar myopathy

scientific article published on October 1, 2011
Increased expression of the normal cellular isoform of prion protein in inclusion-body myositis, inflammatory myopathies and denervation atrophy

scientific article published in April 2001
A novel clinical tool to classify facioscapulohumeral muscular dystrophy phenotypes.

scientific article published on 28 April 2016
The role of brain MRI in mitochondrial neurogastrointestinal encephalomyopathy.

scientific article
Novel mitochondrial tRNALeu(CUN) transition and D4Z4 partial deletion in a patient with a facioscapulohumeral phenotype

scientific article published on 14 March 2008
Features of cell death in brain and liver, the target tissues of progressive neuronal degeneration of childhood with liver disease (Alpers-Huttenlocher disease).

scientific article published on 30 April 2003
Transcription factors c-Jun/activator protein-1 and nuclear factor-kappa B in oxidative stress response in mitochondrial diseases

scientific article published in February 2003
Muscle glycogenosis and mitochondrial hepatopathy in an infant with mutations in both the myophosphorylase and deoxyguanosine kinase genes

scientific article published in October 2003
Electron transfer mediators and other metabolites and cofactors in the treatment of mitochondrial dysfunction.

scientific article published on August 2009
Mitochondrial dysfunction and Alzheimer's disease: new developments.

scientific article published on July 2006
Strategies for treating mitochondrial disorders: an update

scientific article published on 08 October 2014

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