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L-2-hydroxyglutaric aciduria and brain malignant tumors: a predisposing condition?

Neurology, 2004-05, Vol.62 (10), p.1882

2004

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Identification of new mutations in the ETHE1 gene in a cohort of 14 patients presenting with ethylmalonic encephalopathy

Journal of medical genetics, 2008-07, Vol.45 (7), p.473-478

2008

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Heme oxygenase-1 is a potent inhibitor of placental ischemia-mediated endothelin-1 production in cultured human glomerular endothelial cells

American journal of physiology. Regulatory, integrative and comparative physiology, 2018-03, Vol.314 (3), p.R427-R432

2018

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Carbon Monoxide Releasing Molecules Blunt Placental Ischemia-Induced Hypertension

American journal of hypertension, 2017-09, Vol.30 (9), p.931-937

2017

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Challenges, pitfalls and surprises: development and validation of a monoclonal antibody for enzyme immunoassay of the steroid 1α-hydroxycorticosterone in elasmobranch species

General and comparative endocrinology, 2018-09, Vol.265, p.83-89

2018

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In vitro and in vivo studies on stilbene analogs as potential treatment agents for colon cancer

European journal of medicinal chemistry, 2010-09, Vol.45 (9), p.3702-3708

2010

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Ascorbic acid in Charcot–Marie–Tooth disease type 1A (CMT-TRI AA L and CMT-TRAUK): a double-blind randomised trial

Lancet neurology, 2011-04, Vol.10 (4), p.320-328

2011

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Maternally inherited myopathy and cardiomyopathy: association with mutation in mitochondrial DNA tRNA(Leu)(UUR)

The Lancet (British edition), 1991-07, Vol.338 (8760), p.143-147

1991

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Renal vascular responses to CORM-A1 in the mouse

Pharmacological research, 2006-07, Vol.54 (1), p.24-29

2006

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Responsiveness of clinical outcome measures in Charcot−Marie−Tooth disease

European journal of neurology, 2015-12, Vol.22 (12), p.1556-1563

2015

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Respiratory chain and mitochondrial DNA in muscle and brain in Parkinson's disease patients

Neurology, 1993-11, Vol.43 (11), p.2262

1993

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Clinical, biochemical and neuroradiological findings in L-2-hydroxyglutaric aciduria

Neurological sciences, 2000-06, Vol.21 (2), p.103-108

2000

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Is overwork weakness relevant in Charcot–Marie–Tooth disease?

Journal of neurology, neurosurgery and psychiatry, 2014-12, Vol.85 (12), p.1354-1358

2014

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Late-onset riboflavin-responsive myopathy with combined multiple acyl coenzyme A dehydrogenase and respiratory chain deficiency

Neurology, 1994-11, Vol.44 (11), p.2153

1994

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Inflammation and Microvascular Dysfunction in Cardiac Syndrome X Patients Without Conventional Risk Factors for Coronary Artery Disease

JACC. Cardiovascular imaging, 2013-06, Vol.6 (6), p.660-667

2013

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Plasma cortisol levels in dogs undergoing diagnostic imaging procedures

Veterinary record, 2006-11, Vol.159 (22), p.749-749

2006

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Acute and Chronic Altitude-Induced Cognitive Dysfunction in Children and Adolescents

The Journal of pediatrics, 2016-02, Vol.169, p.238-243

2016

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Reliability of clinical outcome measures in Charcot-Marie-Tooth disease

Neuromuscular disorders : NMD, 2008-01, Vol.18 (1), p.19-26

2008

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Imaging of Vascular Inflammation With [11 C]-PK11195 and Positron Emission Tomography/Computed Tomography Angiography

Journal of the American College of Cardiology, 2010-08, Vol.56 (8), p.653-661

2010

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Ataxia with isolated vitamin E deficiency: neurological phenotype, clinical follow-up and novel mutations in TTPA gene in Italian families

Neurological sciences, 2004-07, Vol.25 (3), p.130-137

2004

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Lysosomal glycogen storage with normal acid maltase: A familial study with successful heart transplant

Neuromuscular disorders : NMD, 1994-05, Vol.4 (3), p.243-247

1994

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Utility of multimodal evoked potential study and electroencephalography in mitochondrial encephalomyopathy

Italian journal of neurological sciences, 1998-10, Vol.19 (5), p.291-300

1998

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A multicenter, randomized, double-blind, placebo-controlled trial of long-term ascorbic acid treatment in Charcot-Marie-Tooth disease type 1A (CMT-TRI AAL): The study protocol [EudraCT no.: 2006-000032-27]

Pharmacological research, 2006-12, Vol.54 (6), p.436-441

2006

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X-linked adrenoleukodystrophy: first report of the Italian Study Group

Italian journal of neurological sciences, 1998-10, Vol.19 (5), p.315-319

1998

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L-2-hydroxyglutaric aciduria and brain malignant tumors: a predisposing condition?

Identification of new mutations in the ETHE1 gene in a cohort of 14 patients presenting with ethylmalonic encephalopathy

Heme oxygenase-1 is a potent inhibitor of placental ischemia-mediated endothelin-1 production in cultured human glomerular endothelial cells

Carbon Monoxide Releasing Molecules Blunt Placental Ischemia-Induced Hypertension

Challenges, pitfalls and surprises: development and validation of a monoclonal antibody for enzyme immunoassay of the steroid 1α-hydroxycorticosterone in elasmobranch species

In vitro and in vivo studies on stilbene analogs as potential treatment agents for colon cancer

Ascorbic acid in Charcot–Marie–Tooth disease type 1A (CMT-TRI AA L and CMT-TRAUK): a double-blind randomised trial

Maternally inherited myopathy and cardiomyopathy: association with mutation in mitochondrial DNA tRNA(Leu)(UUR)

Renal vascular responses to CORM-A1 in the mouse

Responsiveness of clinical outcome measures in Charcot−Marie−Tooth disease

Respiratory chain and mitochondrial DNA in muscle and brain in Parkinson's disease patients

Clinical, biochemical and neuroradiological findings in L-2-hydroxyglutaric aciduria

Is overwork weakness relevant in Charcot–Marie–Tooth disease?

Late-onset riboflavin-responsive myopathy with combined multiple acyl coenzyme A dehydrogenase and respiratory chain deficiency

Inflammation and Microvascular Dysfunction in Cardiac Syndrome X Patients Without Conventional Risk Factors for Coronary Artery Disease

Selected items from the Charcot-Marie-Tooth (CMT) Neuropathy Score and secondary clinical outcome measures serve as sensitive clinical markers of disease severity in CMT1A patients

Plasma cortisol levels in dogs undergoing diagnostic imaging procedures

Acute and Chronic Altitude-Induced Cognitive Dysfunction in Children and Adolescents

Reliability of clinical outcome measures in Charcot-Marie-Tooth disease

Imaging of Vascular Inflammation With [11 C]-PK11195 and Positron Emission Tomography/Computed Tomography Angiography

Ataxia with isolated vitamin E deficiency: neurological phenotype, clinical follow-up and novel mutations in TTPA gene in Italian families

Lysosomal glycogen storage with normal acid maltase: A familial study with successful heart transplant

Utility of multimodal evoked potential study and electroencephalography in mitochondrial encephalomyopathy

A multicenter, randomized, double-blind, placebo-controlled trial of long-term ascorbic acid treatment in Charcot-Marie-Tooth disease type 1A (CMT-TRI AAL): The study protocol [EudraCT no.: 2006-000032-27]

X-linked adrenoleukodystrophy: first report of the Italian Study Group

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