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Lista de obras de Livia Pisciotta

A 33-year-old man with nephrotic syndrome and lecithin-cholesterol acyltransferase (LCAT) deficiency. Description of two new mutations in the LCAT gene

article

ATP1A3 spectrum disorders: A video-documented history of 7 genetically confirmed early onset cases.

artículo científico publicado en 2018

Alternating Hemiplegia of Childhood: Pharmacological treatment of 30 Italian patients.

artículo científico publicado en 2017

Baseline hs-CRP predicts hypertension remission in metabolic syndrome

scientific article published on 03 June 2019

Biallelic Mutations in ADPRHL2, Encoding ADP-Ribosylhydrolase 3, Lead to a Degenerative Pediatric Stress-Induced Epileptic Ataxia Syndrome

Biallelic Mutations in ADPRHL2, Encoding ADP-Ribosylhydrolase 3, Lead to a Degenerative Pediatric Stress-Induced Epileptic Ataxia Syndrome

CNNM2 homozygous mutations cause severe refractory hypomagnesemia, epileptic encephalopathy and brain malformations

scientific article published on 17 July 2018

Cardiac phenotype in ATP1A3-related syndromes: A multicentre cohort study

scientific article published on 10 September 2020

Characterization of three kindreds with familial combined hypolipidemia caused by loss-of-function mutations of ANGPTL3.

artículo científico publicado en 2011

Combined early treatment in hemiplegic attacks related to CACNA1A encephalopathy with brain oedema: Blocking the cascade?

artículo científico publicado en 2016

Epileptic Encephalopathy in Adams-Oliver Syndrome Associated to a New DOCK6 Mutation: A Peculiar Behavioral Phenotype

artículo científico publicado en 2018

Intragenic duplication of KCNQ5 gene results in aberrant splicing leading to a premature termination codon in a patient with intellectual disability

article

Optic Atrophy and Generalized Chorea in a Patient Harboring an OPA10/RTN4IP1 Pathogenic Variant

scientific article published on 11 May 2020

Personality profile and health-related quality of life in adults with previous continuous spike-waves during slow sleep syndrome

artículo científico publicado en 2019

Serum lipoprotein (a) predicts acute coronary syndromes in patients with severe carotid stenosis

artículo científico publicado en 2018

Short-term effect of rosuvastatin treatment on arterial stiffness in individuals with newly-diagnosed heterozygous familial hypercholesterolemia

artículo científico publicado en 2017

The molecular basis of lecithin:cholesterol acyltransferase deficiency syndromes: a comprehensive study of molecular and biochemical findings in 13 unrelated Italian families

artículo científico publicado en 2005

White matter and cerebellar involvement in alternating hemiplegia of childhood

artículo científico publicado en 2020

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