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Publication
PropertyValue
Working Groups RG Wollnik
SubprojectNone
Open AccessOpen Access Yes
Publication TypeJournal Article
Peer ReviewedYes
PMIDPubMed ID 41053928
DOIDOI 10.1002/ana.78013
Publication Year2025
TitleMutations in the Key Autophagy Tethering Factor <scp>EPG5</scp> Link Neurodevelopmental and Neurodegenerative Disorders Including Early‐Onset Parkinsonism
JournalAnnals of Neurology
ISSN0364-5134
eISSN1531-8249
URL https://doi.org/10.1002/ana.78013
Journal AbbreviationAnn Neurol
AuthorsDafsari HS, Deneubourg C, Singh K, Maroofian R, Suprenant Z, Kho AL, Ingham NJ, Steel KP, Sheshadri P, Baur F, Hentrich L, Gerisch B, Zamani M, Alves C, Siddiqui A, Dafsari HS, Salari M, Lang AE, Harris M, Abdelaleem A, Sadeghian S, Azizimalamiri R, Galehdari H, Shariati G, Sedaghat A, Zeighami J, Calame D, Marafi D, Duan R, Boehnke A, Clark GD, Rosenfeld JA, Mohila CA, Steel D, Chopra S, Sharma S, Kohlschmidt N, Patzer S, Saffari A, Ebrahimi‐Fakhari D, Çavdartepe BE, Chang IJ, Beckman E, Peters R, Fennell AP, Lo B, Averdunk L, Distelmaier F, Baethmann M, Elmslie F, Joost K, Nampoothiri S, Yesodharan D, Mandel H, Kimball A, Kline AD, Mignot C, Keren B, Laugel V, Õunap K, Devadathan K, van Berkestijn FM, Silwal A, Koene S, Verma S, Karim MY, Boubidi C, Aziz M, ElGhazali G, Mattas L, Miryounesi M, Hashemi‐Gorji F, Alavi S, Nouri N, Noruzinia M, Kavousi S, Kamath A, Jayawant S, Saneto R, Haridy NA, Kart PO, Cansu A, Joubert M, Beneteau C, Stuurman KE, Wilke M, Barakat TS, Tajsharghi H, Scardamaglia A, Vallian S, Hız S, Shoeibi A, Boostani R, Hashemi N, Babaei M, Alsaleh NS, Porter J, Attié‐Bitach T, Marzin P, Wicher D, Gold JI, Schuler E, Kashgari A, Alanazi RF, Eyaid W, Engelen M, Langeveld M, Stüve B, Li Y, Yigit G, Wollnik B, Monje MH, Krainc D, Mencacci NE, Bakhtiari S, Kruer M, Argilli E, Sherr E, Jamshidi Y, Karimiani EG, Cheung YWS, Karin I, Zifarelli G, Bauer P, Chung WK, Lupski JR, Kurian MA, Dötsch J, von Kleist‐Retzow J, Klopstock T, Wagner M, Yip C, Roos A, Carsetti R, Dionisi‐Vici C, Gautel M, Duchen MR, Antebi A, Houlden H, Fanto M, Jungbluth H
First AuthorDafsari HS
Last AuthorJungbluth H

 External Resources

 174050  NCBI gene (174050)

 45875  Addgene identifier (45875, reused)

 56018  Addgene identifier (56018, reused)

 21074  Addgene identifier (21074, reused)

 onlineli....78013  Article fulltext

 EPG5  Ensembl identifier (EPG5)

 gro-2/152235  GRO.publications identifier

 192333  NCBI clinvar (192333)

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 181053  NCBI gene (181053)

 57724  NCBI gene (57724)

 GCF_000001405.40  NCBI genome (GCF_000001405.40)

 AFP33150.1  NCBI protein (rab-7, partial (Caenorhabditis elegans))

 9606  NCBI taxonomy (human, Homo sapiens)

 10090  NCBI taxonomy (mouse, Mus musculus)

 6239  NCBI taxonomy (nematode, Caenorhabditis elegans)

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 onlineli...2.docx  Supplemental material

 onlineli...3.xlsx  Supplemental material (table)

 onlineli...4.xlsx  Supplemental material (table)

 onlineli...e5.tif  Supplemental material (figure)

 onlineli...e6.tif  Supplemental material (figure)

 onlineli...e7.tif  Supplemental material (figure)

 mbexc.de...onism/  Website entry (mbexc.de)