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

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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
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  Data: Maternal uniparental isodisomy in a patient with autosomal recessive spastic paraplegia type 20.
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  Data: <searchLink fieldCode="AU" term="%22Borgione+E%22">Borgione E</searchLink>; Oasi Research Institute-IRCCS, Via Conte Ruggero 73, 94018 Troina, Italy. Electronic address: eborgione@oasi.en.it.<br /><searchLink fieldCode="AU" term="%22Galesi+O%22">Galesi O</searchLink>; Oasi Research Institute-IRCCS, Via Conte Ruggero 73, 94018 Troina, Italy. Electronic address: ogalesi@oasi.en.it.<br /><searchLink fieldCode="AU" term="%22Paola+SS%22">Paola SS</searchLink>; Oasi Research Institute-IRCCS, Via Conte Ruggero 73, 94018 Troina, Italy. Electronic address: ssantapaola@oasi.en.it.<br /><searchLink fieldCode="AU" term="%22Giudice+ML%22">Giudice ML</searchLink>; Oasi Research Institute-IRCCS, Via Conte Ruggero 73, 94018 Troina, Italy. Electronic address: mlogiudice@oasi.en.it.<br /><searchLink fieldCode="AU" term="%22Giuliano+M%22">Giuliano M</searchLink>; Oasi Research Institute-IRCCS, Via Conte Ruggero 73, 94018 Troina, Italy. Electronic address: mgiuliano@oasi.en.it.<br /><searchLink fieldCode="AU" term="%22Saccuzzo+L%22">Saccuzzo L</searchLink>; 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.<br /><searchLink fieldCode="AU" term="%22Testa+N%22">Testa N</searchLink>; Oasi Research Institute-IRCCS, Via Conte Ruggero 73, 94018 Troina, Italy. Electronic address: ntesta@oasi.en.it.<br /><searchLink fieldCode="AU" term="%22Fichera+M%22">Fichera M</searchLink>; 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.<br /><searchLink fieldCode="AU" term="%22Scuderi+C%22">Scuderi C</searchLink>; Oasi Research Institute-IRCCS, Via Conte Ruggero 73, 94018 Troina, Italy. Electronic address: cscuderi@oasi.en.it.
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  Data: <searchLink fieldCode="JN" term="%227706761%22">Gene</searchLink> [Gene] 2025 Sep 10; Vol. 964, pp. 149646. <i>Date of Electronic Publication: </i>2025 Jun 23.
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  Data: <i>Publisher: </i><searchLink fieldCode="PB" term="%22Elsevier%2FNorth-Holland%22">Elsevier/North-Holland </searchLink><i>Country of Publication: </i>Netherlands <i>NLM ID: </i>7706761 <i>Publication Model: </i>Print-Electronic <i>Cited Medium: </i>Internet <i>ISSN: </i>1879-0038 (Electronic) <i>Linking ISSN: </i><searchLink fieldCode="IS" term="%2203781119%22">03781119 </searchLink><i>NLM ISO Abbreviation: </i>Gene <i>Subsets: </i>MEDLINE
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              Text: 2025 Sep 10
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