Lista de obras - Raffaele Lodi - Dominio Público Uruguay

'Agrypnia excitata' in a case of sporadic Creutzfeldt-Jakob disease VV2.

artículo científico publicado en 2009

'Behr syndrome' with OPA1 compound heterozygote mutations

artículo científico publicado en 2014

A case of fragile X premutation tremor/ataxia syndrome with evidence of mitochondrial dysfunction

artículo científico publicado en 2006

A clinically complex form of dominant optic atrophy (OPA8) maps on chromosome 16.

artículo científico publicado en 2011

A combined a-EEG and MR spectroscopy study in term newborns with hypoxic-ischemic encephalopathy

artículo científico publicado en 2010

A new case of idiopathic hemiplegia hemiconvulsion syndrome

artículo científico publicado en 2010

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

artículo científico publicado en 2014

A quantitative study of bioenergetics in skeletal muscle lacking utrophin and dystrophin.

artículo científico publicado en 2002

Abnormal brain and muscle energy metabolism shown by 31P-MRS in familial hemiplegic migraine

scientific article published on 01 April 1995

Abnormal brain energy metabolism shown by in vivo phosphorus magnetic resonance spectroscopy in patients with chronic liver disease.

artículo científico publicado en 2002

Abnormal cardiac energetics in patients carrying the A3243G mtDNA mutation measured in vivo using phosphorus MR spectroscopy

artículo científico publicado en 2004

Abnormal in vivo skeletal muscle energy metabolism in Huntington's disease and dentatorubropallidoluysian atrophy

artículo científico publicado en 2000

Abnormal medial thalamic metabolism in patients with idiopathic restless legs syndrome.

artículo científico publicado en 2012

Accuracy of MRI/MRSI-based transrectal ultrasound biopsy in peripheral and transition zones of the prostate gland in patients with prior negative biopsy

article

Antioxidant treatment improves in vivo cardiac and skeletal muscle bioenergetics in patients with Friedreich's ataxia

artículo científico publicado en 2001

Antioxidant treatment of patients with Friedreich ataxia: four-year follow-up

artículo científico publicado en 2005

Apparent diffusion coefficient measurements of the middle cerebellar peduncle differentiate the Parkinson variant of MSA from Parkinson's disease and progressive supranuclear palsy.

artículo científico publicado en 2006

Apparent diffusion coefficient of the superior cerebellar peduncle differentiates progressive supranuclear palsy from Parkinson's disease.

artículo científico publicado en 2008

Aspects of human bioenergetics as studied in vivo by magnetic resonance spectroscopy

artículo científico publicado en 1998

Assessment of glutamate and glutamine contribution to in vivo N-acetylaspartate quantification in human brain by (1)H-magnetic resonance spectroscopy

artículo científico publicado en 2005

Association of the mtDNA m.4171C>A/MT-ND1 mutation with both optic neuropathy and bilateral brainstem lesions

artículo científico publicado en 2014

Autosomal dominant limb girdle myopathy with ragged-red fibers and cardiomyopathy. A pedigree study by in vivo 31P-MR spectroscopy indicating a multisystem mitochondrial defect

artículo científico publicado en 1996

Brain and muscle energy metabolism studied in vivo by 31P-magnetic resonance spectroscopy in NARP syndrome

artículo científico publicado en 1994

Brain diffusion-weighted imaging in Friedreich's ataxia

artículo científico publicado en 2011

Brain functional connectivity in sleep-related hypermotor epilepsy

artículo científico publicado en 2017

Brain magnetic resonance metabolic and microstructural changes in adult-onset autosomal dominant leukodystrophy

artículo científico publicado en 2015

Cardiac energetics are abnormal in Friedreich ataxia patients in the absence of cardiac dysfunction and hypertrophy: an in vivo 31P magnetic resonance spectroscopy study.

artículo científico publicado en 2001

Cerebral Mitochondrial Microangiopathy Leads to Leukoencephalopathy in Mitochondrial Neurogastrointestinal Encephalopathy.

artículo científico publicado en 2018

Clinical and brain bioenergetics improvement with idebenone in a patient with Leber's hereditary optic neuropathy: a clinical and 31P-MRS study

artículo científico publicado en 1997

Clinical and neuroimaging evidence of interictal cerebellar dysfunction in FHM2.

artículo científico publicado en 2010

Combined brain voxel-based morphometry and diffusion tensor imaging study in idiopathic restless legs syndrome patients.

artículo científico publicado en 2011

Correlative MR imaging and 31P-MR spectroscopy study in sarcoglycan deficient limb girdle muscular dystrophy

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

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

artículo científico publicado en 2008

Defective mitochondrial adenosine triphosphate production in skeletal muscle from patients with dominant optic atrophy due to OPA1 mutations

artículo científico publicado en 2010

Deficient energy metabolism is associated with low free magnesium in the brains of patients with migraine and cluster headache.

artículo científico publicado en 2001

Deficit of in vivo mitochondrial ATP production in OPA1-related dominant optic atrophy

artículo científico publicado en 2004

Deficit of in vivo mitochondrial ATP production in patients with Friedreich ataxia

artículo científico publicado en 1999

Diffusion Tensor Imaging Mapping of Brain White Matter Pathology in Mitochondrial Optic Neuropathies

artículo científico publicado en 2015

Diffusion tensor MRI changes in cerebellar structures of patients with familial essential tremor

artículo científico publicado en 2010

Diffusion-weighted brain imaging study of patients with clinical diagnosis of corticobasal degeneration, progressive supranuclear palsy and Parkinson's disease

artículo científico publicado en 2008

Diffusion-weighted brain imaging study of patients with clinical diagnosis of corticobasal degeneration, progressive supranuclear palsy and Parkinson's disease

artículo científico publicado en 2009

Diffusion-weighted imaging study of patients with essential tremor

artículo científico publicado en 2007

Diffusivity of cerebellar hemispheres enables discrimination of cerebellar or parkinsonian multiple system atrophy from progressive supranuclear palsy-Richardson syndrome and Parkinson disease.

artículo científico publicado en 2013

Distribution of neurochemical abnormalities in patients with narcolepsy with cataplexy: An in vivo brain proton MR spectroscopy study.

artículo científico publicado en 2009

Energy metabolism in migraine.

artículo científico publicado en 2006

Epilepsia partialis continua associated with NADH-coenzyme Q reductase deficiency

artículo científico publicado en 1995

Failure of muscle energy metabolism in a patient with adenylosuccinate lyase deficiency

artículo científico publicado en 1997

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

Friedreich's ataxia: from disease mechanisms to therapeutic interventions

artículo científico publicado en 2006

Further impairment of muscle phosphate kinetics by lengthening exercise in DMD/BMD carriers

article

Gliomatosis cerebri: clinical, neurochemical and neuroradiological response to temozolomide administration.

artículo científico publicado en 2003

Heterogeneity in chronic fatigue syndrome: evidence from magnetic resonance spectroscopy of muscle

article

Homozygous NOTCH3 null mutation and impaired NOTCH3 signaling in recessive early-onset arteriopathy and cavitating leukoencephalopathy

artículo científico publicado en 2015

Idebenone in Friedreich's ataxia

artículo científico publicado en 2008

Imaging brain functional and metabolic changes in restless legs syndrome

artículo científico publicado en 2013

Impairment of brain and muscle energy metabolism detected by magnetic resonance spectroscopy in hereditary spastic paraparesis type 28 patients with DDHD1 mutations.

artículo científico publicado en 2014

In vivo assessment of human skeletal muscle mitochondria respiration in health and disease

artículo científico publicado en 1997

In vivo skeletal muscle mitochondrial function in Leber's hereditary optic neuropathy assessed by31P magnetic resonance spectroscopy

artículo científico publicado en 1997

Lipoic (thioctic) acid increases brain energy availability and skeletal muscle performance as shown by in vivo 31P-MRS in a patient with mitochondrial cytopathy

artículo científico publicado en 1995

Long-lasting hemianopia due to PCA.

artículo científico publicado en 2010

Low brain iron content in idiopathic restless legs syndrome patients detected by phase imaging

artículo científico publicado en 2013

Magnetic resonance diagnostic markers in clinically sporadic prion disease: a combined brain magnetic resonance imaging and spectroscopy study.

artículo científico publicado en 2009

Magnetic resonance imaging and spectroscopy in the evaluation of neuromuscular disorders and fatigue

artículo científico

Magnetic resonance spectroscopy of episodic ataxia type 2 and migraine

artículo científico publicado en 2000

Mitochondrial complex III deficiency in a case of HCV related noninflammatory myopathy

artículo científico publicado en 2007

Mutations in SLC25A46, encoding a UGO1-like protein, cause an optic atrophy spectrum disorder

scientific journal article

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

artículo científico publicado en 1995

Narcolepsy is a common phenotype in HSAN IE and ADCA-DN.

artículo científico publicado en 2014

Narcolepsy with cataplexy associated with holoprosencephaly misdiagnosed as epileptic drop attacks

artículo científico publicado en 2010

Narcolepsy-cataplexy associated with precocious puberty

artículo científico publicado en 2006

Narcolepsy-like syndrome in multiple sclerosis

artículo científico publicado en 2008

Normal in vivo skeletal muscle oxidative metabolism in sporadic inclusion body myositis assessed by 31P-magnetic resonance spectroscopy

artículo científico publicado en 1998

Pathologic correlates of diffusion MRI changes in Creutzfeldt-Jakob disease

artículo científico publicado en 2009

Phase I trial of the selective mitochondrial toxin MKT 077 in chemo-resistant solid tumours

artículo científico publicado en 1999

Phosphorus magnetic resonance spectroscopy in multiple system atrophy and Parkinson's disease

artículo científico publicado en 1999

Pitfalls and advantages of different strategies for the absolute quantification of N-acetyl aspartate, creatine and choline in white and grey matter by 1H-MRS.

artículo científico publicado en 2009

Polysomnographic and neurometabolic features may mark preclinical autosomal dominant cerebellar ataxia, deafness, and narcolepsy due to a mutation in the DNA (cytosine-5-)-methyltransferase gene, DNMT1.

artículo científico publicado en 2014

Predicting Survival in Patients with Brain Tumors: Current State-of-the-Art of AI Methods Applied to MRI

artículo científico publicado en 2022

Prognostic value of brain proton MR spectroscopy and diffusion tensor imaging in newborns with hypoxic-ischemic encephalopathy treated by brain cooling

scientific article published on 24 May 2013

Progressive cerebral white matter involvement in a patient with Congenital Cataracts Facial Dysmorphisms Neuropathy (CCFDN).

artículo científico publicado en 2010

Prostate cancer: sextant localization with MR imaging, MR spectroscopy, and 11C-choline PET/CT.

artículo científico publicado en 2007

Proton MR Spectroscopy in Patients With Sleep-Related Hypermotor Epilepsy (SHE): Evidence of Altered Cingulate Cortex Metabolism

artículo científico publicado en 2017

Proton magnetic resonance spectroscopy study of brain metabolism in obstructive sleep apnoea syndrome before and after continuous positive airway pressure treatment.

artículo científico publicado en 2007

Quantitative analysis of skeletal muscle bioenergetics and proton efflux in migraine and cluster headache

article

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

artículo científico publicado en 2008

Rare mtDNA variants in Leber hereditary optic neuropathy families with recurrence of myoclonus.

artículo científico publicado en 2008

Reduced cytosolic acidification during exercise suggests defective glycolytic activity in skeletal muscle of patients with Becker muscular dystrophy. An in vivo 31P magnetic resonance spectroscopy study

artículo científico publicado en 1999

Secondary post-geniculate involvement in Leber's hereditary optic neuropathy

artículo científico publicado en 2012

Slowly progressive aphemia: a neuropsychological, conventional, and functional MRI study.

artículo científico publicado en 2011

Spinocerebellar ataxia type 12 identified in two Italian families may mimic sporadic ataxia

artículo científico publicado en 2010

Study of hypothalamic metabolism in cluster headache by proton MR spectroscopy.

artículo científico publicado en 2006

Syndromic parkinsonism and dementia associated with OPA1 missense mutations

artículo científico publicado en 2015

Thalamic contribution to Sleep Slow Oscillation features in humans: a single case cross sectional EEG study in Fatal Familial Insomnia

artículo científico publicado en 2012

The 13042G --> A/ND5 mutation in mtDNA is pathogenic and can be associated also with a prevalent ocular phenotype

artículo científico publicado en 2006

The ND1 gene of complex I is a mutational hot spot for Leber's hereditary optic neuropathy

artículo científico publicado en 2004

The contribution of cerebellar proton magnetic resonance spectroscopy in the differential diagnosis among parkinsonian syndromes

artículo científico publicado en 2015

The residual risk of cerebral embolism after carotid stenting: the complex interplay between stent coverage and aortic arch atherosclerosis

artículo científico publicado en 2009

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

The use of phosphorus magnetic resonance spectroscopy to study in vivo the effect of Coenzyme Q10 treatment in retinitis pigmentosa

artículo científico publicado en 1994

Traumatic intracystic hemorrhage in a case with thalamo-mesencephalic 'expanding lacunae': an uncommon cause of sudden-onset neurological signs

artículo científico publicado en 2003

Versatile coil design and positioning of transverse-field RF surface coils for clinical 1.5-T MRI applications.

artículo científico publicado en 2004

Very low levels of the mtDNA A3243G mutation associated with mitochondrial dysfunction in vivo

artículo científico publicado en 2000

Visual system involvement in patients with Friedreich's ataxia

artículo científico publicado en 2008

Lista de obras de Raffaele Lodi

'Agrypnia excitata' in a case of sporadic Creutzfeldt-Jakob disease VV2.

'Behr syndrome' with OPA1 compound heterozygote mutations

A case of fragile X premutation tremor/ataxia syndrome with evidence of mitochondrial dysfunction

A clinically complex form of dominant optic atrophy (OPA8) maps on chromosome 16.

A combined a-EEG and MR spectroscopy study in term newborns with hypoxic-ischemic encephalopathy

A new case of idiopathic hemiplegia hemiconvulsion syndrome

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

A quantitative study of bioenergetics in skeletal muscle lacking utrophin and dystrophin.

Abnormal brain and muscle energy metabolism shown by 31P-MRS in familial hemiplegic migraine

Abnormal brain energy metabolism shown by in vivo phosphorus magnetic resonance spectroscopy in patients with chronic liver disease.

Abnormal cardiac energetics in patients carrying the A3243G mtDNA mutation measured in vivo using phosphorus MR spectroscopy

Abnormal in vivo skeletal muscle energy metabolism in Huntington's disease and dentatorubropallidoluysian atrophy

Abnormal medial thalamic metabolism in patients with idiopathic restless legs syndrome.

Accuracy of MRI/MRSI-based transrectal ultrasound biopsy in peripheral and transition zones of the prostate gland in patients with prior negative biopsy

Antioxidant treatment improves in vivo cardiac and skeletal muscle bioenergetics in patients with Friedreich's ataxia

Antioxidant treatment of patients with Friedreich ataxia: four-year follow-up

Apparent diffusion coefficient measurements of the middle cerebellar peduncle differentiate the Parkinson variant of MSA from Parkinson's disease and progressive supranuclear palsy.

Apparent diffusion coefficient of the superior cerebellar peduncle differentiates progressive supranuclear palsy from Parkinson's disease.

Aspects of human bioenergetics as studied in vivo by magnetic resonance spectroscopy

Assessment of glutamate and glutamine contribution to in vivo N-acetylaspartate quantification in human brain by (1)H-magnetic resonance spectroscopy

Association of the mtDNA m.4171C>A/MT-ND1 mutation with both optic neuropathy and bilateral brainstem lesions

Autosomal dominant limb girdle myopathy with ragged-red fibers and cardiomyopathy. A pedigree study by in vivo 31P-MR spectroscopy indicating a multisystem mitochondrial defect

Brain and muscle energy metabolism studied in vivo by 31P-magnetic resonance spectroscopy in NARP syndrome

Brain diffusion-weighted imaging in Friedreich's ataxia

Brain functional connectivity in sleep-related hypermotor epilepsy

Brain magnetic resonance metabolic and microstructural changes in adult-onset autosomal dominant leukodystrophy

Cardiac energetics are abnormal in Friedreich ataxia patients in the absence of cardiac dysfunction and hypertrophy: an in vivo 31P magnetic resonance spectroscopy study.

Cerebral Mitochondrial Microangiopathy Leads to Leukoencephalopathy in Mitochondrial Neurogastrointestinal Encephalopathy.

Clinical and brain bioenergetics improvement with idebenone in a patient with Leber's hereditary optic neuropathy: a clinical and 31P-MRS study

Clinical and neuroimaging evidence of interictal cerebellar dysfunction in FHM2.

Combined brain voxel-based morphometry and diffusion tensor imaging study in idiopathic restless legs syndrome patients.

Correlative MR imaging and 31P-MR spectroscopy study in sarcoglycan deficient limb girdle muscular dystrophy

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

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

Defective mitochondrial adenosine triphosphate production in skeletal muscle from patients with dominant optic atrophy due to OPA1 mutations

Deficient energy metabolism is associated with low free magnesium in the brains of patients with migraine and cluster headache.

Deficit of in vivo mitochondrial ATP production in OPA1-related dominant optic atrophy

Deficit of in vivo mitochondrial ATP production in patients with Friedreich ataxia

Diffusion Tensor Imaging Mapping of Brain White Matter Pathology in Mitochondrial Optic Neuropathies

Diffusion tensor MRI changes in cerebellar structures of patients with familial essential tremor

Diffusion-weighted brain imaging study of patients with clinical diagnosis of corticobasal degeneration, progressive supranuclear palsy and Parkinson's disease

Diffusion-weighted brain imaging study of patients with clinical diagnosis of corticobasal degeneration, progressive supranuclear palsy and Parkinson's disease

Diffusion-weighted imaging study of patients with essential tremor

Diffusivity of cerebellar hemispheres enables discrimination of cerebellar or parkinsonian multiple system atrophy from progressive supranuclear palsy-Richardson syndrome and Parkinson disease.

Distribution of neurochemical abnormalities in patients with narcolepsy with cataplexy: An in vivo brain proton MR spectroscopy study.

Energy metabolism in migraine.

Epilepsia partialis continua associated with NADH-coenzyme Q reductase deficiency

Failure of muscle energy metabolism in a patient with adenylosuccinate lyase deficiency

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

Friedreich's ataxia: from disease mechanisms to therapeutic interventions

Further impairment of muscle phosphate kinetics by lengthening exercise in DMD/BMD carriers

Gliomatosis cerebri: clinical, neurochemical and neuroradiological response to temozolomide administration.

Heterogeneity in chronic fatigue syndrome: evidence from magnetic resonance spectroscopy of muscle

Homozygous NOTCH3 null mutation and impaired NOTCH3 signaling in recessive early-onset arteriopathy and cavitating leukoencephalopathy

Idebenone in Friedreich's ataxia

Imaging brain functional and metabolic changes in restless legs syndrome

Impairment of brain and muscle energy metabolism detected by magnetic resonance spectroscopy in hereditary spastic paraparesis type 28 patients with DDHD1 mutations.

In vivo assessment of human skeletal muscle mitochondria respiration in health and disease

In vivo skeletal muscle mitochondrial function in Leber's hereditary optic neuropathy assessed by31P magnetic resonance spectroscopy

Lipoic (thioctic) acid increases brain energy availability and skeletal muscle performance as shown by in vivo 31P-MRS in a patient with mitochondrial cytopathy

Long-lasting hemianopia due to PCA.

Low brain iron content in idiopathic restless legs syndrome patients detected by phase imaging

Magnetic resonance diagnostic markers in clinically sporadic prion disease: a combined brain magnetic resonance imaging and spectroscopy study.

Magnetic resonance imaging and spectroscopy in the evaluation of neuromuscular disorders and fatigue

Magnetic resonance spectroscopy of episodic ataxia type 2 and migraine

Mitochondrial complex III deficiency in a case of HCV related noninflammatory myopathy

Mutations in SLC25A46, encoding a UGO1-like protein, cause an optic atrophy spectrum disorder

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

Narcolepsy is a common phenotype in HSAN IE and ADCA-DN.

Narcolepsy with cataplexy associated with holoprosencephaly misdiagnosed as epileptic drop attacks

Narcolepsy-cataplexy associated with precocious puberty

Narcolepsy-like syndrome in multiple sclerosis

Normal in vivo skeletal muscle oxidative metabolism in sporadic inclusion body myositis assessed by 31P-magnetic resonance spectroscopy

Pathologic correlates of diffusion MRI changes in Creutzfeldt-Jakob disease

Phase I trial of the selective mitochondrial toxin MKT 077 in chemo-resistant solid tumours

Phosphorus magnetic resonance spectroscopy in multiple system atrophy and Parkinson's disease

Pitfalls and advantages of different strategies for the absolute quantification of N-acetyl aspartate, creatine and choline in white and grey matter by 1H-MRS.

Polysomnographic and neurometabolic features may mark preclinical autosomal dominant cerebellar ataxia, deafness, and narcolepsy due to a mutation in the DNA (cytosine-5-)-methyltransferase gene, DNMT1.

Predicting Survival in Patients with Brain Tumors: Current State-of-the-Art of AI Methods Applied to MRI