GPATCH11 variants cause mis-splicing and early-onset retinal dystrophy with neurological impairment

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Location: Deutsche Nationalbibliothek Frankfurt am Main

Extent: 1 Online-Ressource.

Language: Englisch

Bibliographic citation: GPATCH11 variants cause mis-splicing and early-onset retinal dystrophy with neurological impairment ; volume:15 ; number:1 ; day:21 ; month:11 ; year:2024 ; pages:1-20 ; date:12.2024
Nature Communications ; 15, Heft 1 (21.11.2024), 1-20, 12.2024

Creator: Zanetti, Andrea
Dujardin, Gwendal
Fares-Taie, Lucas
Amiel, Jeanne
Roger, Jérôme E.
Audo, Isabelle
Robert, Matthieu P.
David, Pierre
Jung, Vincent
Goudin, Nicolas
Guerrera, Ida Chiara
Moriceau, Stéphanie
Amana, Danielle
Assia Batzir, Nurit
Bachar-Zipori, Anat
Basel Salmon, Lina
Boddaert, Nathalie
Briault, Sylvain
Bruel, Ange-Line
Costet-Fighiera, Christine
Coutinho Santos, Luisa
Gitiaux, Cyril
Kaminska, Karolina
Kuentz, Paul
Orenstein, Naama
Philip-Sarles, Nicole
Plutino, Morgane
Quinodoz, Mathieu
Santos, Cristina
Sigaudy, Sabine
Soeiro e Sá, Mariana
Sofrin, Efrat
Sousa, Ana Berta
Sousa-Luis, Rui
Thauvin-Robinet, Christel
van Dijk, Erwin L.
Zaafrane-Khachnaoui, Khaoula
Zur, Dinah
Kaplan, Josseline
Rivolta, Carlo
Rozet, Jean-Michel
Perrault, Isabelle

Contributor: SpringerLink (Online service)

DOI: 10.1038/s41467-024-54549-8

URN: urn:nbn:de:101:1-2502072108197.590779648078

Rights: Open Access; Der Zugriff auf das Objekt ist unbeschränkt möglich.

Last update: 15.08.2025, 5:33 AM UTC

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Associated

Zanetti, Andrea
Dujardin, Gwendal
Fares-Taie, Lucas
Amiel, Jeanne
Roger, Jérôme E.
Audo, Isabelle
Robert, Matthieu P.
David, Pierre
Jung, Vincent
Goudin, Nicolas
Guerrera, Ida Chiara
Moriceau, Stéphanie
Amana, Danielle
Assia Batzir, Nurit
Bachar-Zipori, Anat
Basel Salmon, Lina
Boddaert, Nathalie
Briault, Sylvain
Bruel, Ange-Line
Costet-Fighiera, Christine
Coutinho Santos, Luisa
Gitiaux, Cyril
Kaminska, Karolina
Kuentz, Paul
Orenstein, Naama
Philip-Sarles, Nicole
Plutino, Morgane
Quinodoz, Mathieu
Santos, Cristina
Sigaudy, Sabine
Soeiro e Sá, Mariana
Sofrin, Efrat
Sousa, Ana Berta
Sousa-Luis, Rui
Thauvin-Robinet, Christel
van Dijk, Erwin L.
Zaafrane-Khachnaoui, Khaoula
Zur, Dinah
Kaplan, Josseline
Rivolta, Carlo
Rozet, Jean-Michel
Perrault, Isabelle
SpringerLink (Online service)

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GPATCH11 variants cause mis-splicing and early-onset retinal dystrophy with neurological impairment

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Other Objects (12)

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TDP-43 loss and ALS-risk SNPs drive mis-splicing and depletion of UNC13A

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The fitness cost of mis-splicing is the main determinant of alternative splicing patterns

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Xq22 deletion involving TCEAL1 in a female patient with early-onset neurological disease trait

Gene Therapy for LMNA-related Congenital Muscular Dystrophy (L-CMD) by Trans-Splicing

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Early-Onset Osteoporosis

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Extending the phenotypic spectrum of PRPF8, PRPH2, RP1 and RPGR, and the genotypic spectrum of early-onset severe retinal dystrophy

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