Mutations in the Key Autophagy Tethering Factor EPG5 Link Neurodevelopmental and Neurodegenerative Disorders Including Early-Onset Parkinsonism.

Dafsari 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 FMC, 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 MHG, 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 JC, 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

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DOI: 10.1002/ana.78013
Published: 2025 Nov
Container: Annals of neurology
Publisher: Not recorded
Open access: yes

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BibTeX

@article{allodium:10.1002/ana.78013,
  title = {Mutations in the Key Autophagy Tethering Factor EPG5 Link Neurodevelopmental and Neurodegenerative Disorders Including Early-Onset Parkinsonism.},
  author = {Dafsari HS and Deneubourg C and Singh K and Maroofian R and Suprenant Z and Kho AL and Ingham NJ and Steel KP and Sheshadri P and Baur F and Hentrich L and Gerisch B and Zamani M and Alves C and Siddiqui A and Dafsari HS and Salari M and Lang AE and Harris M and Abdelaleem A and Sadeghian S and Azizimalamiri R and Galehdari H and Shariati G and Sedaghat A and Zeighami J and Calame D and Marafi D and Duan R and Boehnke A and Clark GD and Rosenfeld JA and Mohila CA and Steel D and Chopra S and Sharma S and Kohlschmidt N and Patzer S and Saffari A and Ebrahimi-Fakhari D and Çavdartepe BE and Chang IJ and Beckman E and Peters R and Fennell AP and Lo B and Averdunk L and Distelmaier F and Baethmann M and Elmslie F and Joost K and Nampoothiri S and Yesodharan D and Mandel H and Kimball A and Kline AD and Mignot C and Keren B and Laugel V and Õunap K and Devadathan K and van Berkestijn FMC and Silwal A and Koene S and Verma S and Karim MY and Boubidi C and Aziz M and ElGhazali G and Mattas L and Miryounesi M and Hashemi-Gorji F and Alavi S and Nouri N and Noruzinia M and Kavousi S and Kamath A and Jayawant S and Saneto R and Haridy NA and Kart PO and Cansu A and Joubert M and Beneteau C and Stuurman KE and Wilke M and Barakat TS and Tajsharghi H and Scardamaglia A and Vallian S and Hız S and Shoeibi A and Boostani R and Hashemi N and Babaei M and Alsaleh NS and Porter J and Attié-Bitach T and Marzin P and Wicher D and Gold JI and Schuler E and Kashgari A and Alanazi RF and Eyaid W and Engelen M and Langeveld M and Stüve B and Li Y and Yigit G and Wollnik B and Monje MHG and Krainc D and Mencacci NE and Bakhtiari S and Kruer M and Argilli E and Sherr E and Jamshidi Y and Karimiani EG and Cheung YWS and Karin I and Zifarelli G and Bauer P and Chung WK and Lupski JR and Kurian MA and Dötsch J and von Kleist-Retzow JC and Klopstock T and Wagner M and Yip C and Roos A and Carsetti R and Dionisi-Vici C and Gautel M and Duchen MR and Antebi A and Houlden H and Fanto M and Jungbluth H},
  year = {2025},
  journal = {Annals of neurology},
  doi = {10.1002/ana.78013},
  url = {https://doi.org/10.1002/ana.78013}
}

RIS

TY  - JOUR
TI  - Mutations in the Key Autophagy Tethering Factor EPG5 Link Neurodevelopmental and Neurodegenerative Disorders Including Early-Onset Parkinsonism.
AU  - Dafsari HS
AU  - Deneubourg C
AU  - Singh K
AU  - Maroofian R
AU  - Suprenant Z
AU  - Kho AL
AU  - Ingham NJ
AU  - Steel KP
AU  - Sheshadri P
AU  - Baur F
AU  - Hentrich L
AU  - Gerisch B
AU  - Zamani M
AU  - Alves C
AU  - Siddiqui A
AU  - Dafsari HS
AU  - Salari M
AU  - Lang AE
AU  - Harris M
AU  - Abdelaleem A
AU  - Sadeghian S
AU  - Azizimalamiri R
AU  - Galehdari H
AU  - Shariati G
AU  - Sedaghat A
AU  - Zeighami J
AU  - Calame D
AU  - Marafi D
AU  - Duan R
AU  - Boehnke A
AU  - Clark GD
AU  - Rosenfeld JA
AU  - Mohila CA
AU  - Steel D
AU  - Chopra S
AU  - Sharma S
AU  - Kohlschmidt N
AU  - Patzer S
AU  - Saffari A
AU  - Ebrahimi-Fakhari D
AU  - Çavdartepe BE
AU  - Chang IJ
AU  - Beckman E
AU  - Peters R
AU  - Fennell AP
AU  - Lo B
AU  - Averdunk L
AU  - Distelmaier F
AU  - Baethmann M
AU  - Elmslie F
AU  - Joost K
AU  - Nampoothiri S
AU  - Yesodharan D
AU  - Mandel H
AU  - Kimball A
AU  - Kline AD
AU  - Mignot C
AU  - Keren B
AU  - Laugel V
AU  - Õunap K
AU  - Devadathan K
AU  - van Berkestijn FMC
AU  - Silwal A
AU  - Koene S
AU  - Verma S
AU  - Karim MY
AU  - Boubidi C
AU  - Aziz M
AU  - ElGhazali G
AU  - Mattas L
AU  - Miryounesi M
AU  - Hashemi-Gorji F
AU  - Alavi S
AU  - Nouri N
AU  - Noruzinia M
AU  - Kavousi S
AU  - Kamath A
AU  - Jayawant S
AU  - Saneto R
AU  - Haridy NA
AU  - Kart PO
AU  - Cansu A
AU  - Joubert M
AU  - Beneteau C
AU  - Stuurman KE
AU  - Wilke M
AU  - Barakat TS
AU  - Tajsharghi H
AU  - Scardamaglia A
AU  - Vallian S
AU  - Hız S
AU  - Shoeibi A
AU  - Boostani R
AU  - Hashemi N
AU  - Babaei M
AU  - Alsaleh NS
AU  - Porter J
AU  - Attié-Bitach T
AU  - Marzin P
AU  - Wicher D
AU  - Gold JI
AU  - Schuler E
AU  - Kashgari A
AU  - Alanazi RF
AU  - Eyaid W
AU  - Engelen M
AU  - Langeveld M
AU  - Stüve B
AU  - Li Y
AU  - Yigit G
AU  - Wollnik B
AU  - Monje MHG
AU  - Krainc D
AU  - Mencacci NE
AU  - Bakhtiari S
AU  - Kruer M
AU  - Argilli E
AU  - Sherr E
AU  - Jamshidi Y
AU  - Karimiani EG
AU  - Cheung YWS
AU  - Karin I
AU  - Zifarelli G
AU  - Bauer P
AU  - Chung WK
AU  - Lupski JR
AU  - Kurian MA
AU  - Dötsch J
AU  - von Kleist-Retzow JC
AU  - Klopstock T
AU  - Wagner M
AU  - Yip C
AU  - Roos A
AU  - Carsetti R
AU  - Dionisi-Vici C
AU  - Gautel M
AU  - Duchen MR
AU  - Antebi A
AU  - Houlden H
AU  - Fanto M
AU  - Jungbluth H
PY  - 2025
JO  - Annals of neurology
DO  - 10.1002/ana.78013
UR  - https://doi.org/10.1002/ana.78013
ER  -

APA

HS, D., C, D., K, S., R, M., Z, S., AL, K., NJ, I., KP, S., P, S., F, B., L, H., B, G., M, Z., C, A., A, S., HS, D., M, S., AE, L., M, H., A, A., S, S., R, A., H, G., G, S., A, S., J, Z., D, C., D, M., R, D., A, B., GD, C., JA, R., CA, M., D, S., S, C., S, S., N, K., S, P., A, S., D, E., BE, Ç., IJ, C., E, B., R, P., AP, F., B, L., L, A., F, D., M, B., F, E., K, J., S, N., D, Y., H, M., A, K., AD, K., C, M., B, K., V, L., K, Õ., K, D., FMC, V. B., A, S., S, K., S, V., MY, K., C, B., M, A., G, E., L, M., M, M., F, H., S, A., N, N., M, N., S, K., A, K., S, J., R, S., NA, H., PO, K., A, C., M, J., C, B., KE, S., M, W., TS, B., H, T., A, S., S, V., S, H., A, S., R, B., N, H., M, B., NS, A., J, P., T, A., P, M., D, W., JI, G., E, S., A, K., RF, A., W, E., M, E., M, L., B, S., Y, L., G, Y., B, W., MHG, M., D, K., NE, M., S, B., M, K., E, A., E, S., Y, J., EG, K., YWS, C., I, K., G, Z., P, B., WK, C., JR, L., MA, K., J, D., JC, V. K., T, K., M, W., C, Y., A, R., R, C., C, D., M, G., MR, D., A, A., H, H., M, F., & H, J. (2025). Mutations in the Key Autophagy Tethering Factor EPG5 Link Neurodevelopmental and Neurodegenerative Disorders Including Early-Onset Parkinsonism.. Annals of neurology. https://doi.org/10.1002/ana.78013

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pubmed · retrieved 2026-09-26T11:14:01.946Z