Search Results - "TORTORELLA, G"
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Attention Deficit and Hyperactivity Disorders in the Offspring of Mothers Exposed to Mild-Moderate Iodine Deficiency: A Possible Novel Iodine Deficiency Disorder in Developed Countries
Published in The journal of clinical endocrinology and metabolism (01-12-2004)“…Over a period of almost 10 yr, we carried out a prospective study of the neuropsychological development of the offspring of 16 women from a moderately…”
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ANGIOTENSIN II INDUCES UCP1 IN ADIPOSE TISSUE OF AN EXPERIMENTAL MODEL OF CARDIO-RENAL CACHEXIA: ROLE FOR A MODULATORY EFFECT OF BETA ADRENERGIC ANTAGONISM
Published in Journal of hypertension (01-07-2019)“…OBJECTIVE:Cachexia is a severe complication of advanced heart failure and chronic kidney disease. We previously reported that high dose Angiotensin II infusion…”
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Corrigendum to “Impact of hemoglobin levels at admission on outcomes among elderly patients with acute coronary syndrome treated with low-dose Prasugrel or clopidogrel: A sub-study of the ELDERLY ACS 2 trial” [Int J Cardiol. 2022 Dec 15;369:5-11]
Published in International journal of cardiology (15-04-2023)Get full text
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Congenital muscular dystrophies with defective glycosylation of dystroglycan: A population study
Published in Neurology (26-05-2009)“…Congenital muscular dystrophies (CMD) with reduced glycosylation of alpha-dystroglycan (alpha-DG) are a heterogeneous group of conditions associated with…”
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Psoriasis and the risk of acute coronary syndrome in the elderly
Published in International journal of cardiology (15-12-2018)“…Psoriasis has been associated with a higher prevalence of cardiovascular disease risk factors. However, there is inadequate quantification on the association…”
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Features and prognostic impact of distant metastases in 45 dogs with de novo stage IV cutaneous mast cell tumours: A prospective study
Published in Veterinary & comparative oncology (01-03-2018)“…Background Distant metastases in dogs with cutaneous mast cell tumors (cMCT) are rare and incurable. The aims of this prospective study were to clarify the…”
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Acute coronary syndrome (ACS) in patients with essential thrombocytemia (ET). What is the best treatment?
Published in International journal of cardiology (15-01-2016)Get full text
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A rigidity result for coisotropic submanifolds in contact geometry
Published in Mathematische Zeitschrift (2025)“…We study coisotropic deformations of a compact regular coisotropic submanifold C in a contact manifold ( M , ξ ) . Our main result states that C is rigid among…”
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Early-onset epileptic encephalopathy in a girl carrying a truncating mutation of the ARX gene: rethinking the ARX phenotype in females
Published in Clinical genetics (01-07-2013)“…Severe early‐onset epilepsy is due to a number of known causes, although a clear etiology is not identifiable in up to a third of all the cases. Pathogenic…”
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CONGENITAL MUSCULAR DYSTROPHY WITH DEFECTIVE α-DYSTROGLYCAN, CEREBELLAR HYPOPLASIA, AND EPILEPSY
Published in Neurology (10-11-2009)Get full text
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Congenital muscular dystrophies with cognitive impairment: A population study
Published in Neurology (07-09-2010)“…Cognitive impairment has been reported in a significant proportion of patients with congenital muscular dystrophies (CMD), generally associated with brain…”
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Familial periventricular heterotopia: Missense and distal truncating mutations of the FLN1 gene
Published in Neurology (26-03-2002)“…To examine the clinical and MRI associations in bilateral periventricular nodular heterotopia (BPNH) (MIM # 300049) in two families segregating a missense…”
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Expression of Endothelin‐1 and Endothelin Receptor A in Canine Ovarian Tumours
Published in Reproduction in domestic animals (01-12-2010)“…Ovarian tumours have a low incidence in bitch. Endothelin (ET‐1) and endothelin A receptor (ET‐A) are overexpressed in human ovarian cancer. Twenty canine…”
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POMT1 and POMT2 mutations in CMD patients: A multicentric Italian study
Published in Neuromuscular disorders : NMD (01-07-2008)“…Abstract Mutations in POMT1 and POMT2 genes were originally identified in Walker–Warburg syndrome (WWS) and subsequently reported in patients with milder…”
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Multiplex ligation-dependent probe amplification detects DCX gene deletions in band heterotopia
Published in Neurology (06-02-2007)“…Subcortical band heterotopia (SBH, or double cortex syndrome) is a neuronal migration disorder consisting of heterotopic bands of gray matter located between…”
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Alternating hemiplegia of childhood successfully treated with topiramate: 18 months of follow-up
Published in Neurology (10-01-2006)Get full text
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Visual evoked potentials in succinate semialdehyde dehydrogenase (SSADH) deficiency
Published in Journal of inherited metabolic disease (01-12-2009)“…Summary In mammals, increased GABA in the central nervous system has been associated with abnormalities of visual evoked potentials (VEPs), predominantly…”
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Novel human pathological mutations. Gene symbol: SCN1A. Disease: severe myoclonic epilepsy of infancy
Published in Human genetics (01-08-2009)Get full text
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EM.P.2.05 Congenital muscular dystrophy with defective α-dystroglycan glycosylation, cerebellar hypoplasia and severe epilepsy
Published in Neuromuscular disorders : NMD (01-09-2009)Get full text
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High sensitivity cardiac troponin I: A comparison with a point of care testing (PSTHFAST) and a central laboratory analyzer (Beckman Coluter)
Published in Clinica chimica acta (01-05-2024)Get full text
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