List of works by Andrea Martinuzzi

A Long Term Effects of a New Onset Psychosis after DBS Treated with Quetiapine in a Patient with Parkinson's Disease

scientific article published on 12 January 2015

A clinical, genetic, and biochemical characterization of SPG7 mutations in a large cohort of patients with hereditary spastic paraplegia

scientific article from 2008

A new scale for the assessment of performance and capacity of hand function in children with hemiplegic cerebral palsy: reliability and validity studies.

scientific article published on 15 April 2014

A novel in-frame 18-bp microdeletion in MT-CYB causes a multisystem disorder with prominent exercise intolerance

scientific article published on 28 June 2014

A novel mutation in KIF5A gene causing hereditary spastic paraplegia with axonal neuropathy

article

A novel nonsense mutation in the APTX gene associated with delayed DNA single-strand break removal fails to enhance sensitivity to different genotoxic agents

article

A population survey in Italy based on the ICF classification: recognizing persons with severe disability.

scientific article

A stop-codon mutation in the human mtDNA cytochrome c oxidase I gene disrupts the functional structure of complex IV.

scientific article

A survey on feasibility of ICF-CY use to describe persisting difficulties in executing tasks and activities of children and adolescent with disability in Italy

scientific article published on 8 June 2014

Accumulation of CK-MM is impaired in innervated and contracting cultured muscle fibers of Duchenne muscular dystrophy patients

scientific article published on 01 August 1987

Antioxidant defences in cybrids harboring mtDNA mutations associated with Leber's hereditary optic neuropathy

scientific article

Apoptotic cell death of cybrid cells bearing Leber's hereditary optic neuropathy mutations is caspase independent

scientific article published in December 2003

Applying the International Classification of Functioning, Disability and Health (ICF) to measure childhood disability.

scientific article

Aquaporin 1 expression in cystic hemangioblastomas.

scientific article

Aquaporin(s) expression in choroid plexus tumours

scientific article published on 01 January 2006

Assessing and treating pain associated with stroke, multiple sclerosis, cerebral palsy, spinal cord injury and spasticity. Evidence and recommendations from the Italian Consensus Conference on Pain in Neurorehabilitation

scientific article

Asynchronous regulation of muscle specific isozymes of creatine kinase, glycogen phosphorylase, lactic dehydrogenase and phosphoglycerate mutase in innervated and non-innervated cultured human muscle

scientific article

Bioenergetics shapes cellular death pathways in Leber's hereditary optic neuropathy: a model of mitochondrial neurodegeneration

scientific article published in July 2004

Brain white matter involvement in hereditary spastic paraplegias: analysis with multiple diffusion tensor indices

scientific article published on 30 April 2014

Caspase-independent death of Leber's hereditary optic neuropathy cybrids is driven by energetic failure and mediated by AIF and Endonuclease G.

scientific article

Cavernoma of the foramen of Monro. Case report and review of the literature

scientific article published on 15 July 2006

Cells bearing mutations causing Leber's hereditary optic neuropathy are sensitized to Fas-Induced apoptosis

scientific article

Children in vegetative state and minimally conscious state: patients' condition and caregivers' burden.

scientific article published in February 2012

Children with disability at school: the application of ICF-CY in the Veneto region.

scientific article published in January 2009

Cholestenoic acids regulate motor neuron survival via liver X receptors

scientific article

Chronic therapy for McArdle disease: the randomized trial with ACE inhibitor

scientific article published on July 2007

Clinical and Paraclinical Indicators of Motor System Impairment in Hereditary Spastic Paraplegia: A Pilot Study

scientific article

Clinical and Pulmonary Function Markers of Respiratory Exacerbation Risk in Subjects With Quadriplegic Cerebral Palsy.

scientific article published on 28 April 2015

Clinical and biochemical aspects of carnitine deficiency and insufficiency: transport defects and inborn errors of beta-oxidation

scientific article published on January 1992

Clinical phenotype variability in patients with hereditary spastic paraplegia type 5 associated with CYP7B1 mutations.

scientific article published on 31 January 2011

Complex I deficiency primes Bax-dependent neuronal apoptosis through mitochondrial oxidative damage

scholarly article

Correlation between clinical and molecular features in two MELAS families

scientific article

Cybrid studies establish the causal link between the mtDNA m.3890G>A/MT-ND1 mutation and optic atrophy with bilateral brainstem lesions

scientific article published on 14 December 2012

Cycling induced by functional electrical stimulation in children affected by cerebral palsy: case report.

scientific article published on 20 April 2011

Cytosolic pH buffering during exercise and recovery in skeletal muscle of patients with McArdle's disease.

scientific article

De novo neuromuscular junction formation on human muscle fibres cultured in monolayer and innervated by foetal rat spinal cord: ultrastructural and ultrastructural--cytochemical studies

scientific article

Defective autophagy in spastizin mutated patients with hereditary spastic paraparesis type 15

scientific article published on 11 September 2013

Defective oxidative phosphorylation in thyroid oncocytic carcinoma is associated with pathogenic mitochondrial DNA mutations affecting complexes I and III.

scientific article published on June 2006

Determinants of Quality of Life in Ageing Populations: Results from a Cross-Sectional Study in Finland, Poland and Spain

scientific article

Determinants of health and disability in ageing population: the COURAGE in Europe Project (collaborative research on ageing in Europe).

scientific article published on 24 July 2013

Determinants of mobility in populations of older adults: Results from a cross-sectional study in Finland, Poland and Spain

article

Developmental expression of the muscle-specific isozyme of phosphoglycerate mutase in human muscle cultured in monolayer and innervated by fetal rat spinal cord.

scientific article published in May 1987

Disease-related phenotypes in a Drosophila model of hereditary spastic paraplegia are ameliorated by treatment with vinblastine

scientific article published on November 2005

Disseminating the WHO International Classification of Functioning Health and Disability (ICF) in the Veneto region of Italy

scientific article published on January 2008

Do we really need to open a classification box on personal factors in ICF?

scientific article published on 12 October 2015

Dystrophin-positive myotubes in innervated muscle cultures from Duchenne and Becker muscular dystrophy patients

scientific article published on 01 March 1993

Effects of electrical stimulation and tetrodotoxin paralysis on expression of muscle-specific isozymes of four enzymes in aneurally cultured embryonic rat muscle.

scientific article published in September 1987

Eight Novel Mutations in SPG4 in a Large Sample of Patients With Hereditary Spastic Paraplegia

Eight years of ICF in Italy: Principles, results and future perspectives

article

Endoscopic anatomic features of the triangular recess.

scientific article

Endoscopic anatomy of the cerebral aqueduct.

scientific article published on September 2007

Endoscopic anatomy of the fourth ventricle

scientific article published in September 2008

Endoscopic treatment of colloid cysts of the third ventricle: 9 consecutive cases

scientific article published on 01 September 2000

Expanding cerebral cysts (lacunae): a treatable cause of progressive midbrain syndrome

scientific article published in March 2003

Exploring mental status in Friedreich's ataxia: a combined neuropsychological, behavioral and neuroimaging study

scientific article published in August 2006

Expression of muscle-gene-specific isozymes of phosphorylase and creatine kinase in innervated cultured human muscle

scientific article published on October 1986

Expression of muscle-type phosphorylase in innervated and aneural cultured muscle of patients with myophosphorylase deficiency

scientific article

Failure of endoscopic third ventriculostomy in the treatment of idiopathic normal pressure hydrocephalus

scientific article

Free Mg2+ concentration in the calf muscle of glycogen phosphorylase and phosphofructokinase deficiency patients assessed in different metabolic conditions by 31P MRS

scientific article

Functioning and disability in patients with Angelman syndrome: utility of the International Classification of functioning disability and health, children and youth adaptation framework

scientific article published on January 2009

Functioning and disability of children and adolescents in a vegetative state and a minimally conscious state: identification of ICF-CY-relevant categories

scientific article published in December 2012

Guillain-Barré syndrome with associated thrombocytopenia: prompt response to combined corticosteroid and immunoglobulin treatment.

scientific article

Hippocampal remodelling after MDMA neurotoxicity: a single case study

scientific article

Histoenzymatic profile of human muscle cultured in monolayer and innervated de novo by fetal rat spinal cord.

scientific article

Homotypic fusion of ER membranes requires the dynamin-like GTPase atlastin

scientific article

Hypertrophic cardiomyopathy with mitochondrial myopathy. A new phenotype of complex II defect

scientific article published on 01 January 1993

ICF and ICF-CY for an innovative holistic approach to persons with chronic conditions

scientific article published on 01 January 2009

Implementation of an ICF-based project/program in a pediatric neuro-rehabiltation hospital: follow-up evaluation by stakeholders

scientific article published on 27 September 2012

Individual and group treatment for patients with acquired brain injury in comprehensive rehabilitation.

scientific article

Infancy onset hereditary spastic paraplegia associated with a novel atlastin mutation

scientific article (publication date: 26 August 2003)

International Classification of Functioning, Disability and Health in a cohort of children with cognitive, motor, and complex disabilities.

scientific article published in February 2004

Isolation of transcriptomal changes attributable to LHON mutations and the cybridization process.

scientific article published on 23 February 2005

Italian ICF training programs: describing and promoting human functioning and research.

scientific article published in January 2009

L-carnitine uptake in differentiating human cultured muscle

scientific article

Leber hereditary optic neuropathy mtDNA mutations disrupt glutamate transport in cybrid cell lines.

scientific article published on September 2004

Leber's hereditary optic neuropathy (LHON) pathogenic mutations induce mitochondrial-dependent apoptotic death in transmitochondrial cells incubated with galactose medium

scientific article

Liver fatty acid-binding protein in two cases of human lipid storage

scientific article

MELAS mutation in mtDNA binding site for transcription termination factor causes defects in protein synthesis and in respiration but no change in levels of upstream and downstream mature transcripts

scientific article published on May 1992

Mapping SAGE questionnaire to the International Classification of Functioning, Disability and Health (ICF).

scientific article published on 17 July 2013

Marked replicative advantage of human mtDNA carrying a point mutation that causes the MELAS encephalomyopathy

scientific article published on December 1992

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

scientific article published on 01 July 2006

McArdle's disease. The unsolved mystery of the reappearing enzyme

scientific article

Mitochondrial DNA background modulates the assembly kinetics of OXPHOS complexes in a cellular model of mitochondrial disease.

scientific article published on 19 September 2008

Mitochondrial disease activates transcripts of the unfolded protein response and cell cycle and inhibits vesicular secretion and oligodendrocyte-specific transcripts.

scientific article published on 24 May 2006

Molecular characterization of myophosphorylase deficiency in a group of patients from northern Italy

scientific article published on 01 April 1996

Moving towards ICF use for monitoring the UN Convention on the rights of persons with disabilities: The Italian experience

article

MtDNA mutations associated with Leber's hereditary optic neuropathy: studies on cytoplasmic hybrid (cybrid) cells.

scientific article published on May 1995

Multidimensional outcome measure of selective dorsal rhizotomy in spastic cerebral palsy.

scientific article

Multisite trial comparing the efficacy of constraint-induced movement therapy with that of bimanual intensive training in children with hemiplegic cerebral palsy: postintervention results

scientific article published on 01 July 2011

Multisite trial on efficacy of constraint-induced movement therapy in children with hemiplegia: study design and methodology

scientific article published on 01 March 2009

Mutation analysis of MFN2, GJB1, MPZ and PMP22 in Italian patients with axonal Charcot-Marie-Tooth disease

scientific article published on 13 May 2014

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

scientific article

Mutations in the motor and stalk domains of KIF5A in spastic paraplegia type 10 and in axonal Charcot-Marie-Tooth type 2.

scientific article

Myoglobinuria and carnitine palmityltransferase (CPT) deficiency: studies with malonyl-CoA suggest absence of only CPT-II.

scientific article published in March 1984

Myophosphorylase deficiency affects muscle mitochondrial respiration as shown by 31P-MR spectroscopy in a case with associated multifocal encephalopathy

scientific article published on 01 January 1995

Neuroendoscopic aspiration of hematocephalus totalis: technical note

scientific article published in October 2005

Neuroendoscopic management of intraventricular hemorrhage

scientific article published on 22 January 2004

New mutations in TK2 gene associated with mitochondrial DNA depletion.

scientific article published in March 2006

Non-convulsive status epilepticus of frontal origin in mucopolysaccharidosis type II successfully treated with ethosuximide

scientific article published on 14 March 2012

Novel LGI1 mutation in a family with autosomal dominant partial epilepsy with auditory features

scientific article (publication date: 27 May 2003)

Oestrogens ameliorate mitochondrial dysfunction in Leber's hereditary optic neuropathy.

scientific article

Paralysis of innervated cultured human muscle fibers affects enzymes differentially

scientific article published in January 1990

Pediatric biobanking: a pilot qualitative survey of practices, rules, and researcher opinions in ten European countries.

scientific article published on 13 December 2011

Pediatric neurorehabilitation and the ICF.

scientific article published in January 2015

Pharmacological and nutritional treatment for McArdle disease (Glycogen Storage Disease type V)

scientific article (publication date: 12 November 2014)

Pharmacological and nutritional treatment for McArdle disease (Glycogen Storage Disease type V)

scientific article (publication date: 8 December 2010)

Pharmacological and nutritional treatment for McArdle disease (Glycogen Storage Disease type V)

scientific article

Phenotype modulators in myophosphorylase deficiency

scientific article published in April 2003

Point mutations and a large intragenic deletion in SPG11 in complicated spastic paraplegia without thin corpus callosum.

scientific article

Preliminary results of ICF dissemination in primary health care in Mozambique: sharing the Italian experience

scientific article published on January 2009

Prevalence and correlates of mental disorders among adolescents in Italy: the PrISMA study.

scientific article published on 22 January 2009

Primary obstruction of the fourth ventricle outlets: neuroendoscopic approach and anatomic description

scientific article published in December 2009

Projecting and programming rehabilitation based on ICF-CY format in a neuropediatric hospital unit.

scientific article published in January 2009

Protection against oxidant-induced apoptosis by exogenous glutathione in Leber hereditary optic neuropathy cybrids

scientific article

Psychological profile in children and adolescents with severe course Juvenile Idiopathic Arthritis.

scientific article published on 3 May 2012

Randomized, placebo-controlled, double-blind pilot trial of ramipril in McArdle's disease.

scientific article published in March 2008

Rescue of a mitochondrial deficiency causing Leber Hereditary Optic Neuropathy

scientific article published in November 2002

Residual muscle cytochrome c oxidase activity accounts for submaximal exercise lactate threshold in chronic progressive external ophthalmoplegia

scientific article published on 01 March 1996

Respiratory complex I dysfunction due to mitochondrial DNA mutations shifts the voltage threshold for opening of the permeability transition pore toward resting levels

scientific article

Respiratory function in cybrid cell lines carrying European mtDNA haplogroups: implications for Leber's hereditary optic neuropathy

scientific article published on October 2002

Safety and efficacy of interferon γ in friedreich's ataxia

scientific article published on 13 January 2020

Safety profile of incobotulinum toxin A [Xeomin(®)] in gastrocnemious muscles injections in children with cerebral palsy: Randomized double-blind clinical trial

scholarly article by Elena Carraro et al published 22 April 2016 in European Journal of Paediatric Neurology

Sensory-motor conduction time in amyotrophic lateral sclerosis

scientific article published on 01 May 1989

Severe CMT type 2 with fatal encephalopathy associated with a novel MFN2 splicing mutation

scientific article

Severe head injury in early infancy: analysis of causes and possible predictive factors for outcome

scientific article published on 24 March 2007

Severe impairment of complex I-driven adenosine triphosphate synthesis in leber hereditary optic neuropathy cybrids

scientific article

Sociodemographic features and diagnoses as predictors of severe disability in a sample of adults applying for disability certification

scientific article published in June 2014

Switching from constant voltage to constant current in deep brain stimulation: a multicenter experience of mixed implants for movement disorders

scientific article published on 25 October 2015

The ICF and labour policies project: the first Italian nation-wide experience of ICF implementation in the Labour Sector

scientific article published on January 2009

The International Classification of Functioning Disability and Health, version for children and youth as a roadmap for projecting and programming rehabilitation in a neuropaediatric hospital unit.

scientific article published in January 2010

The Italian preadolescent mental health project (PrISMA): rationale and methods.

scientific article

The Locomotory Index in diplegic and hemiplegic children: the effects of age and speed on the energy cost of walking.

scientific article published on 23 July 2012

The blurred scenario of motor neuron disorders linked toSpatacsinmutations: a case report

scientific article published on 01 October 2014

The cytochrome b p.278Y>C mutation causative of a multisystem disorder enhances superoxide production and alters supramolecular interactions of respiratory chain complexes

scientific article published on 14 February 2013

The dystonic child treated with deep brain stimulation: ICF reading of a high-tech approach

scientific article published on 01 January 2009

The first ALS2 missense mutation associated with JPLS reveals new aspects of alsin biological function

scientific article

The first Italian family with evidence of pyramidal impairment as phenotypic manifestation of Silver syndrome BSCL2 gene mutation

scientific article published in June 2008

The genetic and metabolic signature of oncocytic transformation implicates HIF1alpha destabilization

scientific article published on 22 December 2009

The perception of involved professionals towards research feasibility and usefulness: lessons from the Multi-Site Trial on Efficacy of Constraint Induced Movement Therapy in Children with Hemiplegia

scientific article published on 01 July 2010

The role of pH on the thermodynamics and kinetics of muscle biochemistry: an in vivo study by (31)P-MRS in patients with myo-phosphorylase deficiency.

scientific article

Towards a common disability assessment framework: theoretical and methodological issues for providing public services and benefits using ICF.

scientific article published in January 2009

Training on the International Classification of Functioning, Disability and Health (ICF): the ICF-DIN Basic and the ICF-DIN Advanced Course developed by the Disability Italian Network

scientific article

Two novel missense mutations (E654K, L396P) in Caucasian patients with myophosphorylase deficiency (McArdle's disease)

scientific article published on 01 January 1995

Ubidecarenone in the treatment of mitochondrial myopathies: a multi-center double-blind trial.

scientific article

Unimanual and bimanual intensive training in children with hemiplegic cerebral palsy and persistence in time of hand function improvement: 6-month follow-up results of a multisite clinical trial.

scientific article published on 10 May 2012

Validation of the COURAGE Built Environment Self-Reported Questionnaire

scientific article published on 16 July 2013

Variability of the expression of muscle mitochondrial damage in ocular mitochondrial myopathy

scientific article published on 01 January 1992

Variants in KIF1A gene in dominant and sporadic forms of hereditary spastic paraparesis

scientific article

[Myopathies caused by defects of lipid and carbohydrate metabolism]

scientific article published on 01 January 1988

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