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Journal of Inherited Metabolic Disease|February 14, 2021
Expanding the phenotype, genotype and biochemical knowledge of ALG3-CDGHind Alsharhan, Bobby G Ng, Earnest James Paul Daniel, et al.
The Pediatric Infectious Disease Journal|August 16, 2013
Ensuring quality in AFRINEST and SATT: clinical standardization and monitoringStephen N Wall, Corinne I Mazzeo, Ebunoluwa A Adejuyigbe, et al.
Pathogens (Basel, Switzerland)|April 3, 2021
Invasive Candida Infections in Neonates after Major Surgery: Current Evidence and New DirectionsDomenico Umberto De Rose, Alessandra Santisi, Maria Paola Ronchetti, et al.
American Journal of Respiratory and Critical Care Medicine|September 17, 2024
Lung-Protective Mechanical Ventilation in Patients with Severe Acute Brain Injury: A Multicenter Randomized Clinical Trial (PROLABI)Luciana Mascia, Vito Fanelli, Alice Mistretta, et al.
Journal of the Peripheral Nervous System : JPNS|June 5, 2026
A Quantitative Assessment of Upper Limb Motor Function Across Disease Stages in Hereditary Transthyretin AmyloidosisMehrnaz Hamedani, Valeria Prada, Sara Massucco, et al.
Journal of Neurology, Neurosurgery, and Psychiatry|June 5, 2024
Phenotypic spectrum of myelin protein zero-related neuropathies: a large cohort study from five mutation clusters across ItalyAlessandro Bertini, Luca Gentile, Tiziana Cavallaro, et al.
Journal of Neurology|July 31, 2022
Long-term efficacy and safety of inotersen for hereditary transthyretin amyloidosis: NEURO-TTR open-label extension 3-year updateThomas H Brannagan, Teresa Coelho, Annabel K Wang, et al.
Journal of Neurology, Neurosurgery, and Psychiatry|November 2, 2023
Use, tolerability, benefits and side effects of orthotic devices in Charcot-Marie-Tooth diseaseAlessandro Bertini, Fiore Manganelli, Gian Maria Fabrizi, et al.
Epilepsia|December 24, 2024
Phenotypic traits and family history in patients with 22q11.2 deletion syndrome and generalized epilepsy: A multicenter case-control studyEmanuele Cerulli Irelli, Martina Fanella, Boris Chaumette, et al.
Neurological Sciences : Official Journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology|April 15, 2024
Long-term treatment of hereditary transthyretin amyloidosis with patisiran: multicentre, real-world experience in ItalyLuca Gentile, Anna Mazzeo, Chiara Briani, et al.
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