Maternal uniparental isodisomy in a patient with autosomal recessive spastic paraplegia type 20.

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Bibliographic Details
Title: Maternal uniparental isodisomy in a patient with autosomal recessive spastic paraplegia type 20.
Authors: Borgione E; Oasi Research Institute-IRCCS, Via Conte Ruggero 73, 94018 Troina, Italy. Electronic address: eborgione@oasi.en.it., Galesi O; Oasi Research Institute-IRCCS, Via Conte Ruggero 73, 94018 Troina, Italy. Electronic address: ogalesi@oasi.en.it., Paola SS; Oasi Research Institute-IRCCS, Via Conte Ruggero 73, 94018 Troina, Italy. Electronic address: ssantapaola@oasi.en.it., Giudice ML; Oasi Research Institute-IRCCS, Via Conte Ruggero 73, 94018 Troina, Italy. Electronic address: mlogiudice@oasi.en.it., Giuliano M; Oasi Research Institute-IRCCS, Via Conte Ruggero 73, 94018 Troina, Italy. Electronic address: mgiuliano@oasi.en.it., Saccuzzo L; Department of Biomedical and Biotechnological Sciences, Section of Clinical Biochemistry and Medical Genetics, University of Catania, via Santa Sofia, 95123 Catania, Italy. Electronic address: lrsa@live.it., Testa N; Oasi Research Institute-IRCCS, Via Conte Ruggero 73, 94018 Troina, Italy. Electronic address: ntesta@oasi.en.it., Fichera M; Department of Biomedical and Biotechnological Sciences, Section of Clinical Biochemistry and Medical Genetics, University of Catania, via Santa Sofia, 95123 Catania, Italy; Research Unit of Rare Diseases and Neurodevelopmental Disorders, Oasi Research Institute, I-94018 Troina, Italy. Electronic address: marco.fichera@unict.it., Scuderi C; Oasi Research Institute-IRCCS, Via Conte Ruggero 73, 94018 Troina, Italy. Electronic address: cscuderi@oasi.en.it.
Source: Gene [Gene] 2025 Sep 10; Vol. 964, pp. 149646. Date of Electronic Publication: 2025 Jun 23.
Publication Type: Journal Article; Case Reports
Journal Info: Publisher: Elsevier/North-Holland Country of Publication: Netherlands NLM ID: 7706761 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1879-0038 (Electronic) Linking ISSN: 03781119 NLM ISO Abbreviation: Gene Subsets: MEDLINE
Database: MEDLINE Ultimate
Description
ISSN:1879-0038
DOI:10.1016/j.gene.2025.149646