List of works by Massimiliano Filosto

A Multicentric Prospective Incidence Study of Guillain-Barré Syndrome in Italy. The ITANG Study

scientific article published on 29 August 2015

A Novel Mutation in Motor Domain of KIF5A Associated With an HSP/Axonal Neuropathy Phenotype

scientific article published on 01 March 2015

A Novel Mutation in the Stalk Domain of Causes a Slowly Progressive Atypical Motor Syndrome

scientific article published on 22 December 2018

A PCR-based protocol to accurately size C9orf72 intermediate-length alleles

scientific article published on 17 October 2016

A complex craniovertebral junction malformation in a patient with late onset glycogenosis 2.

scientific article published on July 2014

A genome-wide association meta-analysis identifies a novel locus at 17q11.2 associated with sporadic amyotrophic lateral sclerosis

scientific article

A high-dose bortezomib neuropathy with sensory ataxia and myelin involvement

scientific article published on 05 July 2007

A mitochondrial DNA duplication as a marker of skeletal muscle specific mutations in the mitochondrial genome

scientific article published in June 2004

A new mutation in the mitochondrial tRNA(Ala) gene in a patient with ophthalmoplegia and dysphagia

scientific article published on 01 July 2001

A non-syndromic hearing loss caused by very low levels of the mtDNA A3243G mutation

scientific article published in July 2004

A novel KCNA1 mutation in a patient with paroxysmal ataxia, myokymia, painful contractures and metabolic dysfunctions.

scientific article

A novel clinical tool to classify facioscapulohumeral muscular dystrophy phenotypes.

scientific article published on 28 April 2016

A novel mitochondrial tRNA(Ala) gene variant causes chronic progressive external ophthalmoplegia in a patient with Huntington disease.

scientific article published on 27 February 2016

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

scientific article published in November 2004

A screening for superoxide dismutase-1 D90A mutation in Italian patients with sporadic amyotrophic lateral sclerosis

scientific article published in December 2002

A very slowly progressive neurogenic 'man-in-the-barrel' syndrome.

scientific article

ASAH1 variant causing a mild SMA phenotype with no myoclonic epilepsy: a clinical, biochemical and molecular study.

scientific article

Advances in Quantitative Imaging of Genetic and Acquired Myopathies: Clinical Applications and Perspectives

scientific article published on 11 February 2019

Allogeneic haematopoietic stem cell transplantation for mitochondrial neurogastrointestinal encephalomyopathy

scientific article published on 10 August 2015

An "inflammatory" mitochondrial myopathy. A case report

scientific article published on 8 August 2013

Antimyoclonic effect of levetiracetam in MERRF syndrome

scientific article published on 18 January 2006

Antioxidant agents have a different expression pattern in muscle fibers of patients with mitochondrial diseases

scientific article published on 16 November 2001

Assessing the Role of Anti rh-GAA in Modulating Response to ERT in a Late-Onset Pompe Disease Cohort from the Italian GSDII Study Group

article

Atypical CIDP: diagnostic criteria, progression and treatment response. Data from the Italian CIDP Database

article

Autosomal dominant psychiatric disorders and mitochondrial DNA multiple deletions: Report of a family

scientific article published on 22 June 2007

Becker muscular dystrophy due to an intronic splicing mutation inducing a dual dystrophin transcript

scientific article published on 16 August 2016

C9orf72 Intermediate Alleles in Patients with Amyotrophic Lateral Sclerosis, Systemic Lupus Erythematosus, and Rheumatoid Arthritis

scientific article published on 11 March 2019

Central-peripheral sensory axonopathy in a juvenile case of Alpers-Huttenlocher disease

scientific article published in June 2003

Changing Characteristics of Late-Onset Pompe Disease Patients in Italy: Data from the Pompe Registry

scientific article

Choreo-athetosis in LRRK2 R1441C mutation: expanding the clinical phenotype

scientific article published on 27 July 2013

Chronic ophthalmoparesis in limb girdle muscular dystrophy 1C.

scientific article published in April 2009

Clinical Spectrum and Evolution of Monoclonal Gammopathy-associated Neuropathy

scientific article published on 01 November 2012

Clinical and biochemical improvements in a patient with MNGIE following enzyme replacement

scientific article published on 21 August 2013

Clinical and genetic heterogeneity in progressive external ophthalmoplegia due to mutations in polymerase gamma

scientific article published in September 2003

Coexistence of CLCN1 and SCN4A mutations in one family suffering from myotonia.

scientific article published on 9 October 2017

Common and rare variant association analyses in Amyotrophic Lateral Sclerosis identify 15 risk loci with distinct genetic architectures and neuron-specific biology

preprint

Common and rare variant association analyses in amyotrophic lateral sclerosis identify 15 risk loci with distinct genetic architectures and neuron-specific biology

scholarly article

Cortico-spinal tDCS in ALS: A randomized, double-blind, sham-controlled trial

scientific article published on 08 June 2019

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

scientific article published on 01 November 2004

Course and management of allogeneic stem cell transplantation in patients with mitochondrial neurogastrointestinal encephalomyopathy

scientific article published on 19 June 2012

Critical illness myopathy

scientific article published on 01 November 2012

Current options in the treatment of mitochondrial diseases.

scientific article

Cutis verticis gyrata, mental retardation and Lennox-Gastaut syndrome: a case report

scientific article published in June 2001

Decreased Levels of Foldase and Chaperone Proteins Are Associated with an Early-Onset Amyotrophic Lateral Sclerosis.

scientific article published on 06 April 2017

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

Dermatomyositis and retroperitoneal germ cell cancer

scientific article published on 01 January 2001

Disulfiram neuropathy: Two cases of distal axonopathy

scientific article published on 01 April 2008

Drugs and mitochondrial diseases: 40 queries and answers.

scientific article published on 31 January 2012

Effects of short-to-long term enzyme replacement therapy (ERT) on skeletal muscle tissue in late onset Pompe disease (LOPD).

scientific article published on 2 June 2017

Electron transfer mediators and other metabolites and cofactors in the treatment of mitochondrial dysfunction.

scientific article published on August 2009

Erythrocyte Encapsulated Thymidine Phosphorylase for the Treatment of Patients with Mitochondrial Neurogastrointestinal Encephalomyopathy: Study Protocol for a Multi-Centre, Multiple Dose, Open Label Trial

scientific article published on 24 July 2019

Evaluation of muscle biopsy in late-onset GSDII patients before and after enzyme replacement therapy (ERT).

scientific article published on 29 May 2013

Exercise Combined with Electrotherapy Enhances Motor Function in an Adolescent with Spinal Muscular Atrophy Type III

scientific article published on 22 July 2019

Exploring Olfactory Function and Its Relation with Behavioral and Cognitive Impairment in Amyotrophic Lateral Sclerosis Patients: A Cross-Sectional Study

scientific article published on 6 August 2016

Expression of late myogenic differentiation markers in sarcoplasmic masses of patients with myotonic dystrophy

scientific article published on 01 February 2005

Expression of protein kinase C isoforms and interleukin-1beta in myofibrillar myopathy

scientific article

Extrapyramidal and cognitive signs in amyotrophic lateral sclerosis: A population based cross-sectional study.

scientific article

Eyelid ptosis from sympathetic nerve dysfunction mistaken as myopathy: a simple test to identify this condition

scientific article

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

Frequency of diabetes and other comorbidities in chronic inflammatory demyelinating polyradiculoneuropathy and their impact on clinical presentation and response to therapy

scientific article published on 31 August 2020

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

scientific article published on 25 July 2016

Genotype-phenotype correlation in Pompe disease, a step forward.

scientific article

Guillain-Barré syndrome and COVID-19: an observational multicentre study from two Italian hotspot regions

scientific article published on 06 November 2020

Hemangioma of the semimembranosus muscle in a patient with late-onset glycogenosis II.

scientific article published on 24 November 2012

Human leukocyte antigens class II in CIDP spectrum neuropathies

scientific article published on 23 October 2019

Human skeletal muscle as a target organ of trichloroethylene toxicity

scientific article published in August 2005

Hyperornithinemia-hyperammonemia-homocitrullinuria (HHH) syndrome in adulthood: a rare recognizable condition

scientific article published on 18 December 2012

I-4Long-term follow-up effects on enzymereplacement treatment of adult form of acid maltase deficiency myopathy.

scientific article published in October 2011

Idiopathic hypocomplementemic urticarial vasculitis-linked neuropathy

scientific article published on 16 April 2009

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

Infantile hepatocerebral syndromes associated with mutations in the mitochondrial DNA polymerase-gammaA.

scientific article published on 2 February 2005

Interpretation of the Epigenetic Signature of Facioscapulohumeral Muscular Dystrophy in Light of Genotype-Phenotype Studies

scientific article published on 10 April 2020

Involvement of the central nervous system myelin in a POEMS patient

scientific article published on 05 November 2010

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

scientific article

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

scientific article published on 01 October 2003

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

Late and Severe Myopathy in a Patient With Glycogenosis VII Worsened by Cyclosporine and Amiodarone

scientific article published on 07 February 2019

Late-Onset Glycogen Storage Disease Type 2.

scientific article published on 10 October 2014

Limb-girdle muscular dystrophy-associated protein diseases

scientific article

MERRF syndrome without ragged-red fibers: the need for molecular diagnosis

scientific article published on 26 January 2007

MR Neurography in Diagnosing Nondiabetic Lumbosacral Radiculoplexus Neuropathy

scientific article published on 10 June 2013

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

scientific article

McArdle disease and sporadic inclusion body myositis.

scientific article published on 11 February 2009

McArdle disease: the mutation spectrum of PYGM in a large Italian cohort

scientific article published on 01 July 2006

Mitochondrial DNA haplogroups do not influence the Huntington's disease phenotype

scientific article published on 8 August 2008

Mitochondrial DNA sequence variation and neurodegeneration

scientific article (publication date: September 2008)

Mitochondrial Neurogastrointestinal Encephalomyopathy (MNGIE-MTDPS1)

scientific article published on 26 October 2018

Mitochondrial Sensorineural Hearing Loss: A Retrospective Study and a Description of Cochlear Implantation in a MELAS Patient

scientific article published on 20 February 2012

Mitochondrial diseases: a nosological update.

scientific article published on April 2007

Mitochondrial diseases: advances and issues.

scientific article published on 15 February 2017

Mitochondrial dysfunction and Alzheimer's disease: new developments.

scientific article published on July 2006

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)

Mitochondrial myopathy of childhood associated with mitochondrial DNA depletion and a homozygous mutation (T77M) in the TK2 gene

scientific article published in July 2003

Molecular Genetics of Niemann-Pick Type C Disease in Italy: An Update on 105 Patients and Description of 18 NPC1 Novel Variants

scientific article published on 03 March 2020

Muscle biopsy displaying "double trouble" pathology: Combined features of periodic paralysis and dermatomyositis

scientific article published on 01 July 2018

Muscle glycogenosis and mitochondrial hepatopathy in an infant with mutations in both the myophosphorylase and deoxyguanosine kinase genes

scientific article published in October 2003

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

article

Mutations in CYP2U1, DDHD2 and GBA2 genes are rare causes of complicated forms of hereditary spastic paraparesis

scientific article

Myoclonus in mitochondrial disorders

scientific article published on 7 February 2014

Myopathic involvement and mitochondrial pathology in Kennedy disease and in other motor neuron diseases.

scientific article published on January 2014

New motor outcome function measures in evaluation of late-onset Pompe disease before and after enzyme replacement therapy

scientific article published on June 2012

Non-muscle involvement in late-onset glycogenosis II.

scientific article published on October 2013

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

scientific article published on 14 March 2008

Nusinersen safety and effects on motor function in adult spinal muscular atrophy type 2 and 3

scientific article published on 11 September 2020

O-3Clinical features and outcome measures during1 year enzyme replacement therapy in late onset GSD II patients.

scientific article published in October 2011

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

P-14Multiple acyl-coa dehydrogenase deficiency:a possibly treatable condition.

scientific article published in October 2011

P301L Tau mutation and non-Alzheimer dementias in Italy

scientific article published in November 2003

POLG mutations causing ophthalmoplegia, sensorimotor polyneuropathy, ataxia, and deafness

scientific article published in January 2004

Phenotypic heterogeneity of the 8344A>G mtDNA "MERRF" mutation

scientific article published in May 2013

Pitfalls in diagnosing mitochondrial neurogastrointestinal encephalomyopathy.

scientific article published on 19 April 2011

Plasma amino acids patterns and age of onset of amyotrophic lateral sclerosis

scientific article published on 06 June 2014

Poor Outcome in a Mitochondrial Neurogastrointestinal Encephalomyopathy Patient with a Novel TYMP Mutation: The Need for Early Diagnosis.

scientific article

Prevalence of Asymptomatic Vertebral Fractures in Late-Onset Pompe Disease.

scientific article

Primary mitochondrial myopathy: Clinical features and outcome measures in 118 cases from Italy

scientific article published on 20 October 2020

Progress in Enzyme Replacement Therapy in Glycogen Storage Disease Type II

scientific article published on May 2009

Progressive external ophthalmoplegia: a new family with tremor and peripheral neuropathy

scientific article published on 01 June 2005

Reply to: Double trouble progressive external ophthalmoplegia and Huntington's disease.

scientific article published on 17 May 2016

Reversible upper limb muscle weakness with selective loss of thick filaments

scientific article published in September 2003

Revisiting mitochondrial ocular myopathies: a study from the Italian Network.

scientific article

Riboflavin-responsive multiple acyl-CoA dehydrogenase deficiency with unknown genetic defect

scientific article published on 22 December 2011

Risk factors for chronic inflammatory demyelinating polyradiculoneuropathy (CIDP): antecedent events, lifestyle and dietary habits. Data from the Italian CIDP Database

scientific article published on 09 August 2019

Safety and Efficacy of Erythrocyte Encapsulated Thymidine Phosphorylase in Mitochondrial Neurogastrointestinal Encephalomyopathy

scientific article published on 05 April 2019

Sarcoidosis and inclusion body myositis

scientific article published on 08 July 2008

Small nerve fiber pathology in critical illness

scientific article

Spinal muscular atrophy and mitochondrial DNA depletion. Response to Berber et al. (2003) Acta Neuropathol 105:245-251.

scientific article published on 10 April 2003

Strategies for treating mitochondrial disorders: an update

scientific article published on 08 October 2014

Subcutaneous immunoglobulin in CIDP and MMN: a different long-term clinical response?

scientific article published on 24 June 2015

T-cell anti-apoptotic mechanisms in inflammatory myopathies

scientific article published on 01 November 2000

Tetracyclines and neuromuscular disorders

scientific article published on June 2012

The brain in late-onset glycogenosis II: a structural and functional MRI study.

scientific article published on 23 April 2013

The genetic basis of undiagnosed muscular dystrophies and myopathies: Results from 504 patients

scientific article published on 08 June 2016

The m.3243A>G mitochondrial DNA mutation and related phenotypes. A matter of gender?

scientific article

The role of brain MRI in mitochondrial neurogastrointestinal encephalomyopathy.

scientific article

The role of mitochondria in neurodegenerative diseases

scientific article published on 22 May 2011

The role of muscle biopsy in investigating isolated muscle pain

scientific article published on 01 January 2007

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

Trauma and amyotrophic lateral sclerosis: a european population-based case-control study from the EURALS consortium

scientific article

Vaccination recommendations for patients with neuromuscular disease.

scientific article published on 16 September 2014

Very late-onset friedreich ataxia with laryngeal dystonia.

scientific article published in September 2014

Whole-blood global DNA methylation is increased in amyotrophic lateral sclerosis independently of age of onset

scientific article published on 13 November 2013

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