Publications by authors named "Alberta Leon"

Claim this Profile
A
A Novel Deletion in Disease (Chorea-Acanthocytosis): A Case Report with Brief Literature Summary.
Benedetta Perrone, Viviana Mosca, Martina Pecoraro, Paola Ruffo, Elda Del Giudice, Alberta Leon

Int J Mol Sci· November 2025

Social Media Activity not collected for this article yet.

Sign Up to Request Social Media Analysis
S
Sensory-Motor Polyneuropathy in an 11-year- old Girl with a Pathogenic Variant in SMC1A: A Case Report.
Angelica De Luisa, Carlo A Cesaroni, Marzia Pollazzon, Carlotta Spagnoli, Stefano G Caraffi, Alberta Leon

Neuropediatrics· February 2025

Social Media Activity not collected for this article yet.

Sign Up to Request Social Media Analysis
T
Two novel compound heterozygous HOXB1 variants in congenital facial palsy: A case report and a brief review of the literature.
Chiara Brugnoli, Susanna Rizzi, Carlo Alberto Cesaroni, Carlotta Spagnoli, Giovanna Pregnolato, Eleonora Chiarotto, Alberta Leon

Am J Med Genet A· January 2025

Social Media Activity not collected for this article yet.

Sign Up to Request Social Media Analysis
E
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.
Carlo Alberto Cesaroni, Gianluca Contrò, Carlotta Spagnoli, Federica Cancelliere, Stefano Giuseppe Caraffi, Alberta Leon

Neurogenetics· July 2024

Social Media Activity not collected for this article yet.

Sign Up to Request Social Media Analysis
D
Disseminated Mycobacterial Infection With Reactive Polyarthritis (Poncet's Disease) During Immune-suppressive Treatment Including Ustekinumab for Pediatric Crohn's Disease.
Chiara Minotti, Paola Costenaro, Daniele Donà, Monica Zuliani, Luca Bosa, Alberta Leon

Pediatr Infect Dis J· June 2024

Social Media Activity not collected for this article yet.

Sign Up to Request Social Media Analysis
G
Genetics screening in an Italian cohort of patients with Amyotrophic Lateral Sclerosis: the importance of early testing and its implication.
Laura Libonati, Chiara Cambieri, Davide Colavito, Federica Moret, Edoardo D'Andrea, Alberta Leon

J Neurol· April 2024

Social Media Activity not collected for this article yet.

Sign Up to Request Social Media Analysis
'
'A novel TRIP4 Variant Associated with Peripheral Neuropathy: Expanding the Clinical and Genetic Spectrum of ASC1-Related Myopathy'.
Ivana Frongia, Carlotta Spagnoli, Susanna Rizzi, Daniele Frattini, Alberta Leon

J Neuromuscul Dis· January 2024

Social Media Activity not collected for this article yet.

Sign Up to Request Social Media Analysis
M
Multiple melanomas in ichthyosis with confetti: One more piece of evidence.
Italo Francesco Aromolo, Chiara Moltrasio, Luca Cozzaglio, Davide Colavito, Alberta Leon

Australas J Dermatol· November 2023

Social Media Activity not collected for this article yet.

Sign Up to Request Social Media Analysis
A
A novel CACNA1A R2201W variant in a woman with hemiplegic migraine.
Giacomo Baso, Francesco Mele, Elda Del Giudice, Alberta Leon, Leonardo Pantoni

Neurol Sci· September 2023

Social Media Activity not collected for this article yet.

Sign Up to Request Social Media Analysis
E
Evaluating the contribution of the gene TARDBP in Italian patients with amyotrophic lateral sclerosis.
Serena Lattante, Mario Sabatelli, Giulia Bisogni, Giuseppe Marangi, Paolo Niccolò Doronzio, Alberta Leon

Eur J Neurol· May 2023

Social Media Activity not collected for this article yet.

Sign Up to Request Social Media Analysis
E
Elusive amines: migraine depends on biochemical abnormalities.
Giovanni D'Andrea, Antonina Gucciardi, Alberta Leon

Neurol Sci· November 2022

Social Media Activity not collected for this article yet.

Sign Up to Request Social Media Analysis
S
Study of arginine metabolism in medication overuse chronic migraine: possible defect in NO synthesis.
Giovanni D'Andrea, Antonina Gucciardi, Giuseppe Giordano, Gennaro Bussone, Alberta Leon

Neurol Sci· April 2022

Social Media Activity not collected for this article yet.

Sign Up to Request Social Media Analysis
A
A novel compound heterozygous mutation in GALC associated with adult-onset Krabbe disease: case report and literature review.
Salvatore Iacono, Elda Del Giudice, Alberta Leon, Vincenzo La Bella, Rossella Spataro

Neurogenetics· April 2022

Social Media Activity not collected for this article yet.

Sign Up to Request Social Media Analysis
T
THUMPD1 bi-allelic variants cause loss of tRNA acetylation and a syndromic neurodevelopmental disorder.
Martin Broly, Bogdan V Polevoda, Kamel M Awayda, Ning Tong, Jenna Lentini, Alberta Leon

Am J Hum Genet· April 2022

Social Media Activity not collected for this article yet.

Sign Up to Request Social Media Analysis
M
Mitofusin 2: The missing link between mtDNA maintenance defects and neurotransmitter disorders.
Giuditta Pellino, Raffaella Faggioli, Anna Galuppi, Alberta Leon, Carlo Fusco

Mitochondrion· November 2021

Social Media Activity not collected for this article yet.

Sign Up to Request Social Media Analysis
C
Case Report: Intestinal Nodular Lymphoid Hyperplasia as First Manifestation of Activated PI3Kδ Syndrome Due to a Novel Variant.
Antonio Marzollo, Silvia Bresolin, Davide Colavito, Alice Cani, Paola Gaio, Alberta Leon

Front Pediatr· October 2021

Social Media Activity not collected for this article yet.

Sign Up to Request Social Media Analysis
I
IFIH1 loss-of-function variants contribute to very early-onset inflammatory bowel disease.
Mara Cananzi, Elizabeth Wohler, Antonio Marzollo, Davide Colavito, Jing You, Alberta Leon

Hum Genet· September 2021

Social Media Activity not collected for this article yet.

Sign Up to Request Social Media Analysis
N
Novel CARMIL2 loss-of-function variants are associated with pediatric inflammatory bowel disease.
Luca Bosa, Vritika Batura, Davide Colavito, Karoline Fiedler, Paola Gaio, Alberta Leon

Sci Rep· March 2021

Social Media Activity not collected for this article yet.

Sign Up to Request Social Media Analysis
S
Successful fenofibrate therapy for severe and persistent hypertriglyceridemia in a boy with cirrhosis and glycerol-3-phosphate dehydrogenase 1 deficiency.
Lorenza Matarazzo, Valentina Ragnoni, Cristina Malaventura, Alberta Leon, Davide Colavito

JIMD Rep· July 2020

Social Media Activity not collected for this article yet.

Sign Up to Request Social Media Analysis
P
Pathogenesis of Cluster Headache: From Episodic to Chronic Form, the Role of Neurotransmitters and Neuromodulators.
Giovanni D'Andrea, Antonina Gucciardi, Francesco Perini, Alberta Leon

Headache· October 2019

Social Media Activity not collected for this article yet.

Sign Up to Request Social Media Analysis
D
Different Circulating Trace Amine Profiles in De Novo and Treated Parkinson's Disease Patients.
Giovanni D'Andrea, Gilberto Pizzolato, Antonina Gucciardi, Matteo Stocchero, Giuseppe Giordano, Alberta Leon

Sci Rep· April 2019

Social Media Activity not collected for this article yet.

Sign Up to Request Social Media Analysis
A
Are CSNK2A1 gene mutations associated with retinal dystrophy? Report of a patient carrier of a novel de novo splice site mutation.
Davide Colavito, Elda Del Giudice, Chiara Ceccato, Maurizio Dalle Carbonare, Alberta Leon

J Hum Genet· June 2018

Social Media Activity not collected for this article yet.

Sign Up to Request Social Media Analysis
N
Non-syndromic isolated dominant optic atrophy caused by the p.R468C mutation in the AFG3 like matrix AAA peptidase subunit 2 gene.
Davide Colavito, Veronica Maritan, Agnese Suppiej, Elda Del Giudice, Monica Mazzarolo, Alberta Leon

Biomed Rep· November 2017

Social Media Activity not collected for this article yet.

Sign Up to Request Social Media Analysis
L
Long-term rearrangement of retinal structures in a novel mutation of X-linked retinoschisis.
Stefano Piermarocchi, Stefania Miotto, Davide Colavito, Elda Del Giudice, Alberta Leon

Biomed Rep· September 2017

Social Media Activity not collected for this article yet.

Sign Up to Request Social Media Analysis
A
Abnormal tyrosine metabolism in chronic cluster headache.
Giovanni D'Andrea, Massimo Leone, Gennaro Bussone, Paola Di Fiore, Andrea Bolner, Alberta Leon

Cephalalgia· February 2017

Social Media Activity not collected for this article yet.

Sign Up to Request Social Media Analysis