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Neurological Sciences : Official Journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology|January 15, 2022
Kearns-Sayre syndrome: expanding spectrum of a "novel" mitochondrial leukomyeloencephalopathyMarco Moscatelli, Anna Ardissone, Eleonora Lamantea, et al.
Glia|May 29, 2014
Mitochondrial dysfunction in central nervous system white matter disordersLaia Morató, Enrico Bertini, Daniela Verrigni, et al.
Human Mutation|June 23, 2016
Biallelic Mutations in DNM1L are Associated with a Slowly Progressive Infantile EncephalopathyAlessia Nasca, Andrea Legati, Enrico Baruffini, et al.
Frontiers in Genetics|December 6, 2014
Cavitating leukoencephalopathy with multiple mitochondrial dysfunction syndrome and NFU1 mutationsFederica Invernizzi, Anna Ardissone, Eleonora Lamantea, et al.
Neurological Sciences : Official Journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology|April 16, 2025
Arginase 1 deficiency: a treatable form of spastic paraplegiaAlessandro Burlina, Anna Ardissone, Roberta Battini, et al.
European Journal of Pediatrics|January 19, 2016
SEPN1-related myopathy in three patients: novel mutations and diagnostic cluesAnna Ardissone, Cinzia Bragato, Flavia Blasevich, et al.
JIMD Reports|March 17, 2015
Mitochondrial Complex III Deficiency Caused by TTC19 Defects: Report of a Novel Mutation and Review of LiteratureAnna Ardissone, Tiziana Granata, Andrea Legati, et al.
European Journal of Human Genetics : EJHG|November 23, 2024
WDR45-related encephalopathy mimicking Leigh syndrome associated with complex I deficiency: a case reportGiulia Ferrera, Kevork Derderian, Rossella Izzo, et al.
Stem Cell Research|January 7, 2026
Generation of two human iPSC lines from fibroblasts of BPAN patients carrying pathogenic variants in the WDR45 geneGemma Gasparini, Carolin Kraus, Ejona Rusha, et al.
Muscle & Nerve|April 28, 2009
Fukutin gene mutations in an Italian patient with early onset muscular dystrophy but no central nervous system involvementSimona Saredi, Alessandra Ruggieri, Elisa Mottarelli, et al.
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