Editorial: Application of Omics Approaches to the Diagnosis of Genetic Neurological Disorders by Andrea Legati, Edoardo Giacopuzzi, Edoardo Giacopuzzi, Marco Spinazzi, Monkol Lek

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Nanopore long-read next-generation sequencing for detection of mitochondrial DNA large-scale deletions by Chiara Frascarelli, Nadia Zanetti, Alessia Nasca, Rossella Izzo, Costanza Lamperti, Eleonora Lamantea, Andrea Legati, Daniele Ghezzi, Daniele Ghezzi

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Clinical and Biochemical Features in a Patient With Mitochondrial Fission Factor Gene Alteration by Alessia Nasca, Francesca Nardecchia, Anna Commone, Michela Semeraro, Andrea Legati, Barbara Garavaglia, Daniele Ghezzi, Daniele Ghezzi, Vincenzo Leuzzi

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Generation of two human iPSC lines, FINCBi002-A and FINCBi003-A, carrying heteroplasmic macrodeletion of mitochondrial DNA causing Pearson’s syndrome by Camille Peron, Roberta Mauceri, Angelo Iannielli, Andrea Cavaliere, Andrea Legati, Ambra Rizzo, Francesca L. Sciacca, Vania Broccoli, Valeria Tiranti

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Multiple Genetic Rare Variants in Autism Spectrum Disorders: A Single-Center Targeted NGS Study by Chiara Reale, Valeria Tessarollo, Sara Bulgheroni, Silvia Annunziata, Andrea Legati, Daria Riva, Chiara Pantaleoni, Barbara Garavaglia, Stefano D’Arrigo

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Biallelic Variants in <i>ENDOG</i> Associated with Mitochondrial Myopathy and Multiple mtDNA Deletions by Alessia Nasca, Andrea Legati, Megi Meneri, Melisa Emel Ermert, Chiara Frascarelli, Nadia Zanetti, Manuela Garbellini, Giacomo Pietro Comi, Alessia Catania, Costanza Lamperti, Dario Ronchi, Daniele Ghezzi

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Generation of iPSCs from identical twin, one affected by LHON and one unaffected, both carrying a combination of two mitochondrial variants: m.14484 T>C and m.10680G>A by Camille Peron, Andrea Cavaliere, Chiara Fasano, Angelo Iannielli, Manuela Spagnolo, Andrea Legati, Maria Nicol Colombo, Ambra Rizzo, Francesca L. Sciacca, Valerio Carelli, Vania Broccoli, Costanza Lamperti, Valeria Tiranti

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KARS-related diseases: progressive leukoencephalopathy with brainstem and spinal cord calcifications as new phenotype and a review of literature by Anna Ardissone, Davide Tonduti, Andrea Legati, Eleonora Lamantea, Rita Barone, Imen Dorboz, Odile Boespflug-Tanguy, Gabriella Nebbia, Marco Maggioni, Barbara Garavaglia, Isabella Moroni, Laura Farina, Anna Pichiecchio, Simona Orcesi, Luisa Chiapparini, Daniele Ghezzi

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NGS-Based Genetic Analysis in a Cohort of Italian Patients with Suspected Inherited Myopathies and/or HyperCKemia by Federica Invernizzi, Rossella Izzo, Isabel Colangelo, Andrea Legati, Nadia Zanetti, Barbara Garavaglia, Eleonora Lamantea, Lorenzo Peverelli, Anna Ardissone, Isabella Moroni, Lorenzo Maggi, Silvia Bonanno, Laura Fiori, Daniele Velardo, Francesca Magri, Giacomo P. Comi, Dario Ronchi, Daniele Ghezzi, Costanza Lamperti

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Bi‐allelic pathogenic variants in NDUFC2 cause early‐onset Leigh syndrome and stalled biogenesis of complex I by Ahmad Alahmad, Alessia Nasca, Juliana Heidler, Kyle Thompson, Monika Oláhová, Andrea Legati, Eleonora Lamantea, Jana Meisterknecht, Manuela Spagnolo, Langping He, Seham Alameer, Fahad Hakami, Abeer Almehdar, Anna Ardissone, Charlotte L Alston, Robert McFarland, Ilka Wittig, Daniele Ghezzi, Robert W Taylor

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