Lista de obras - Andrea Martinuzzi - Dominio Público Uruguay

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

artículo científico publicado en 2015

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

artículo científico publicado en 2008

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

artículo científico publicado en 2014

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

artículo científico publicado en 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.

artículo científico publicado en 2012

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

artículo científico publicado en 1999

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

artículo científico publicado en 2014

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

artículo científico publicado en 1987

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

artículo científico publicado en 2005

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

artículo científico publicado en 2003

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

artículo científico publicado en 2003

Aquaporin 1 expression in cystic hemangioblastomas.

artículo científico publicado en 2005

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

artículo científico publicado en 2016

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

artículo científico publicado en 1988

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

artículo científico publicado en 2004

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

artículo científico publicado en 2014

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

artículo científico publicado en 2005

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

artículo científico publicado en 2006

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

artículo científico publicado en 2001

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

artículo científico publicado en 2012

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

artículo científico publicado en 2009

Cholestenoic acids regulate motor neuron survival via liver X receptors

artículo científico publicado en 2014

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

artículo científico publicado en 2007

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

artículo científico publicado en 2016

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

artículo científico publicado en 2015

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

artículo científico publicado en 1992

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

artículo científico publicado en 2011

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

artículo científico publicado en 2005

Correlation between clinical and molecular features in two MELAS families

artículo científico publicado en 1992

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.

artículo científico publicado en 2011

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

artículo científico publicado en 2008

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

artículo científico publicado en 1987

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

artículo científico publicado en 2013

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

artículo científico publicado en 2006

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

artículo científico publicado en 2016

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

artículo científico

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

artículo científico publicado en 1987

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

artículo científico publicado en 2005

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

artículo científico publicado en 2008

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

artículo científico publicado en 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

artículo científico publicado en 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.

artículo científico publicado en 2003

Endoscopic anatomy of the cerebral aqueduct.

artículo científico publicado en 2007

Endoscopic anatomy of the fourth ventricle

artículo científico publicado en 2008

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

artículo científico publicado en 2000

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

artículo científico publicado en 2003

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

artículo científico publicado en 2006

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

artículo científico publicado en 1986

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

artículo científico publicado en 1993

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

artículo científico publicado en 2004

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

artículo científico publicado en 2005

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

artículo científico publicado en 2009

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

artículo científico publicado en 2012

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

artículo científico publicado en 1998

Hippocampal remodelling after MDMA neurotoxicity: a single case study

artículo científico publicado en 2009

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

artículo científico publicado en 1988

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

artículo científico publicado en 2009

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

artículo científico publicado en 1993

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

artículo científico publicado en 2009

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

artículo científico publicado en 2012

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

artículo científico publicado en 2014

Infancy onset hereditary spastic paraplegia associated with a novel atlastin mutation

artículo científico publicado en 2003

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

artículo científico publicado en 2004

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

artículo científico publicado en 2005

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

artículo científico publicado en 2009

L-carnitine uptake in differentiating human cultured muscle

artículo científico publicado en 1991

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

artículo científico publicado en 2004

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

artículo científico publicado en 2002

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

artículo científico publicado en 1992

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

artículo científico publicado en 2013

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

artículo científico publicado en 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

artículo científico publicado en 1999

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

artículo científico publicado en 2008

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

artículo científico publicado en 2006

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

artículo científico publicado en 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.

artículo científico publicado en 1995

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

artículo científico publicado en 2014

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

artículo científico publicado en 2011

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

artículo científico publicado en 2009

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

artículo científico publicado en 2014

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

artículo científico publicado en 2013

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

artículo científico publicado en 2011

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

artículo científico publicado en 1984

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

artículo científico publicado en 1995

Neuroendoscopic aspiration of hematocephalus totalis: technical note

artículo científico publicado en 2005

Neuroendoscopic management of intraventricular hemorrhage

artículo científico publicado en 2004

New mutations in TK2 gene associated with mitochondrial DNA depletion.

artículo científico publicado en 2006

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

artículo científico publicado en 2012

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

artículo científico publicado en 2003

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

artículo científico publicado en 2010

Paralysis of innervated cultured human muscle fibers affects enzymes differentially

artículo científico publicado en 1990

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

artículo científico publicado en 2011

Pediatric neurorehabilitation and the ICF.

artículo científico publicado en 2015

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

artículo científico publicado en 2014

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

artículo científico publicado en 2010

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

artículo científico publicado en 2008

Phenotype modulators in myophosphorylase deficiency

artículo científico publicado en 2003

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

artículo científico publicado en 2009

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

artículo científico publicado en 2009

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

artículo científico publicado en 2009

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

artículo científico publicado en 2009

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

artículo científico publicado en 2009

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

artículo científico publicado en 2008

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

artículo científico publicado en 2012

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

artículo científico publicado en 2008

Rescue of a mitochondrial deficiency causing Leber Hereditary Optic Neuropathy

artículo científico publicado en 2002

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

artículo científico publicado en 1996

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

artículo científico publicado en 2008

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

artículo científico publicado en 2002

Safety and efficacy of interferon γ in friedreich's ataxia

artículo científico publicado en 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

artículo científico publicado en 1989

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

artículo científico publicado en 2010

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

artículo científico publicado en 2007

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

artículo científico publicado en 2005

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

artículo científico publicado en 2014

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

artículo científico publicado en 2015

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

artículo científico publicado en 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

artículo científico publicado en 2010

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

artículo científico publicado en 2006

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

artículo científico publicado en 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

artículo científico publicado en 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

artículo científico publicado en 2006

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

artículo científico publicado en 2008

The genetic and metabolic signature of oncocytic transformation implicates HIF1alpha destabilization

artículo científico publicado en 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

artículo científico publicado en 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.

artículo científico publicado en 2011

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

artículo científico publicado en 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

artículo científico publicado en 2005

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

artículo científico publicado en 1995

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

artículo científico publicado en 1990

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

artículo científico publicado en 2012

Validation of the COURAGE Built Environment Self-Reported Questionnaire

artículo científico publicado en 2013

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

artículo científico publicado en 1992

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

artículo científico publicado en 2015

[Myopathies caused by defects of lipid and carbohydrate metabolism]

artículo científico publicado en 1988

Lista de obras de Andrea Martinuzzi

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

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

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

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

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

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

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

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

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

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

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

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

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

Aquaporin 1 expression in cystic hemangioblastomas.

Aquaporin(s) expression in choroid plexus tumours

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

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

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

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

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

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

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

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

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

Cholestenoic acids regulate motor neuron survival via liver X receptors

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

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

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

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

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

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

Correlation between clinical and molecular features in two MELAS families

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

Endoscopic anatomic features of the triangular recess.

Endoscopic anatomy of the cerebral aqueduct.

Endoscopic anatomy of the fourth ventricle

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

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

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

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

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

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

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

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

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

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

Hippocampal remodelling after MDMA neurotoxicity: a single case study

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

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

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

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

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

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

Infancy onset hereditary spastic paraplegia associated with a novel atlastin mutation

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

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

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

L-carnitine uptake in differentiating human cultured muscle

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

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

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

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

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