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THUMPD1 bi-allelic variants cause loss of tRNA acetylation and a syndromic neurodevelopmental disorder

American journal of human genetics, 2022-04, Vol.109 (4), p.587-600

2022

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Combined effects of genetic and non‐genetic risk factors affect response to ranibizumab in exudative age‐related macular degeneration

Acta ophthalmologica (Oxford, England), 2015-09, Vol.93 (6), p.e451-e457

2015

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Novel CARMIL2 loss-of-function variants are associated with pediatric inflammatory bowel disease

Scientific reports, 2021-03, Vol.11 (1), p.5945-5945, Article 5945

2021

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Are CSNK2A1 gene mutations associated with retinal dystrophy? Report of a patient carrier of a novel de novo splice site mutation

Journal of human genetics, 2018-06, Vol.63 (6), p.779-781

2018

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Uridine diphosphate glucuronosyl transferase 1A1 promoter polymorphism predicts the risk of gastrointestinal toxicity and fatigue induced by irinotecan‐based chemotherapy

Cancer, 2006-03, Vol.106 (5), p.1007-1016

2006

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Successful fenofibrate therapy for severe and persistent hypertriglyceridemia in a boy with cirrhosis and glycerol‐3‐phosphate dehydrogenase 1 deficiency

JIMD reports, 2020-07, Vol.54 (1), p.25-31

2020

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Hepatic expression of endocannabinoid receptors and their novel polymorphisms in primary biliary cirrhosis

Journal of gastroenterology, 2010, Vol.45 (1), p.68-76

2010

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Nerve growth factor: from neurotrophin to neurokine

Trends in neurosciences (Regular ed.), 1996-11, Vol.19 (11), p.514-520

1996

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Metastatic transcriptional pattern revealed by gene expression profiling in primary colorectal carcinoma

International journal of cancer, 2005-06, Vol.115 (2), p.256-262

2005

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Stearoylethanolamide exerts anorexic effects in mice via downregulation of liver stearoyl‐coenzyme A desaturase‐1 mRNA expression

The FASEB journal, 2004-10, Vol.18 (13), p.1580-1582

2004

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Gene expression profile of primary gastric cancer: towards the prediction of lymph node status

Annals of surgical oncology, 2007-03, Vol.14 (3), p.1058-1064

2007

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Cannabidiol, unlike synthetic cannabinoids, triggers activation of RBL-2H3 mast cells

Journal of leukocyte biology, 2007-06, Vol.81 (6), p.1512-1522

2007

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N-(2-Hydroxyethyl)hexadecanamide is orally active in reducing edema formation and inflammatory hyperalgesia by down-modulating mast cell activation

European journal of pharmacology, 1996-04, Vol.300 (3), p.227-236

1996

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Elusive amines: migraine depends on biochemical abnormalities

Neurological sciences, 2022-11, Vol.43 (11), p.6299-6304

2022

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Pathogenesis of Cluster Headache: From Episodic to Chronic Form, the Role of Neurotransmitters and Neuromodulators

Headache, 2019-10, Vol.59 (9), p.1665-1670

2019

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Quercetin Protects Cutaneous Tissue-Associated Cell Types Including Sensory Neurons From Oxidative Stress Induced By Glutathione Depletion: Cooperative Effects of Ascorbic Acid

Free radical biology & medicine, 1997, Vol.22 (4), p.669-678

1997

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A novel CACNA1A R2201W variant in a woman with hemiplegic migraine

Neurological sciences, 2023-09, Vol.44 (9), p.3299-3302

2023

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Pathogenesis of Migraine: Role of Neuromodulators

Headache, 2012-07, Vol.52 (7), p.1155-1163

2012

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Genetics screening in an Italian cohort of patients with Amyotrophic Lateral Sclerosis: the importance of early testing and its implication

Journal of neurology, 2024-04, Vol.271 (4), p.1921-1936

2024

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Mitofusin 2: The missing link between mtDNA maintenance defects and neurotransmitter disorders

Mitochondrion, 2021-11, Vol.61, p.159-164

2021

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Different Circulating Trace Amine Profiles in De Novo and Treated Parkinson's Disease Patients

Scientific reports, 2019-04, Vol.9 (1), p.6151-6151, Article 6151

2019

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Multiple melanomas in ichthyosis with confetti: One more piece of evidence

Australasian journal of dermatology, 2023-11, Vol.64 (4), p.576-578

2023

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Study of arginine metabolism in medication overuse chronic migraine: possible defect in NO synthesis

Neurological sciences, 2022-04, Vol.43 (4), p.2745-2749

2022

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Early-onset dysphagia and severe neurodevelopmental disorder as early signs in a patient with two novel variants in NARS1: a case report and brief review of the literature

Neurogenetics, 2024-04

2024

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THUMPD1 bi-allelic variants cause loss of tRNA acetylation and a syndromic neurodevelopmental disorder

Combined effects of genetic and non‐genetic risk factors affect response to ranibizumab in exudative age‐related macular degeneration

Novel CARMIL2 loss-of-function variants are associated with pediatric inflammatory bowel disease

Are CSNK2A1 gene mutations associated with retinal dystrophy? Report of a patient carrier of a novel de novo splice site mutation

Uridine diphosphate glucuronosyl transferase 1A1 promoter polymorphism predicts the risk of gastrointestinal toxicity and fatigue induced by irinotecan‐based chemotherapy

Successful fenofibrate therapy for severe and persistent hypertriglyceridemia in a boy with cirrhosis and glycerol‐3‐phosphate dehydrogenase 1 deficiency

Hepatic expression of endocannabinoid receptors and their novel polymorphisms in primary biliary cirrhosis

Nerve growth factor: from neurotrophin to neurokine

Metastatic transcriptional pattern revealed by gene expression profiling in primary colorectal carcinoma

Stearoylethanolamide exerts anorexic effects in mice via downregulation of liver stearoyl‐coenzyme A desaturase‐1 mRNA expression

Gene expression profile of primary gastric cancer: towards the prediction of lymph node status

Cannabidiol, unlike synthetic cannabinoids, triggers activation of RBL-2H3 mast cells

N-(2-Hydroxyethyl)hexadecanamide is orally active in reducing edema formation and inflammatory hyperalgesia by down-modulating mast cell activation

Elusive amines: migraine depends on biochemical abnormalities

Pathogenesis of Cluster Headache: From Episodic to Chronic Form, the Role of Neurotransmitters and Neuromodulators

Quercetin Protects Cutaneous Tissue-Associated Cell Types Including Sensory Neurons From Oxidative Stress Induced By Glutathione Depletion: Cooperative Effects of Ascorbic Acid

A novel CACNA1A R2201W variant in a woman with hemiplegic migraine

Pathogenesis of Migraine: Role of Neuromodulators

Amniotic fluid stem cells improve survival and enhance repair of damaged intestine in necrotising enterocolitis via a COX-2 dependent mechanism

Genetics screening in an Italian cohort of patients with Amyotrophic Lateral Sclerosis: the importance of early testing and its implication

Mitofusin 2: The missing link between mtDNA maintenance defects and neurotransmitter disorders

Different Circulating Trace Amine Profiles in De Novo and Treated Parkinson's Disease Patients

Multiple melanomas in ichthyosis with confetti: One more piece of evidence

Study of arginine metabolism in medication overuse chronic migraine: possible defect in NO synthesis

Early-onset dysphagia and severe neurodevelopmental disorder as early signs in a patient with two novel variants in NARS1: a case report and brief review of the literature

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