The clinical and genetic spectrum of autosomal-recessive TOR1A-related disorders.

Saffari A, Lau T, Tajsharghi H, Karimiani EG, Kariminejad A, Efthymiou S, Zifarelli G, Sultan T, Toosi MB, Sedighzadeh S, Siu VM, Ortigoza-Escobar JD, AlShamsi AM, Ibrahim S, Al-Sannaa NA, Al-Hertani W, Sandra W, Tarnopolsky M, Alavi S, Li C, Day-Salvatore DL, Martínez-González MJ, Levandoski KM, Bedoukian E, Madan-Khetarpal S, Idleburg MJ, Menezes MJ, Siddharth A, Platzer K, Oppermann H, Smitka M, Collins F, Lek M, Shahrooei M, Ghavideldarestani M, Herman I, Rendu J, Faure J, Baker J, Bhambhani V, Calderwood L, Akhondian J, Imannezhad S, Mirzadeh HS, Hashemi N, Doosti M, Safi M, Ahangari N, Torbati PN, Abedini S, Salpietro V, Gulec EY, Eshaghian S, Ghazavi M, Pascher MT, Vogel M, Abicht A, Moutton S, Bruel AL, Rieubland C, Gallati S, Strom TM, Lochmüller H, Mohammadi MH, Alvi JR, Zackai EH, Keena BA, Skraban CM, Berger SI, Andrew EH, Rahimian E, Morrow MM, Wentzensen IM, Millan F, Henderson LB, Dafsari HS, Jungbluth H, Gomez-Ospina N, McRae A, Peter M, Veltra D, Marinakis NM, Sofocleous C, Ashrafzadeh F, Pehlivan D, Lemke JR, Melki J, Benezit A, Bauer P, Weis D, Lupski JR, Senderek J, Christodoulou J, Chung WK, Goodchild R, Offiah AC, Moreno-De-Luca A, Suri M, Ebrahimi-Fakhari D, Houlden H, Maroofian R

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DOI: 10.1093/brain/awad039
Published: 2023 Aug 1
Container: Brain : a journal of neurology
Publisher: Not recorded
Open access: yes

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Cite this work

BibTeX

@article{allodium:10.1093/brain/awad039,
  title = {The clinical and genetic spectrum of autosomal-recessive TOR1A-related disorders.},
  author = {Saffari A and Lau T and Tajsharghi H and Karimiani EG and Kariminejad A and Efthymiou S and Zifarelli G and Sultan T and Toosi MB and Sedighzadeh S and Siu VM and Ortigoza-Escobar JD and AlShamsi AM and Ibrahim S and Al-Sannaa NA and Al-Hertani W and Sandra W and Tarnopolsky M and Alavi S and Li C and Day-Salvatore DL and Martínez-González MJ and Levandoski KM and Bedoukian E and Madan-Khetarpal S and Idleburg MJ and Menezes MJ and Siddharth A and Platzer K and Oppermann H and Smitka M and Collins F and Lek M and Shahrooei M and Ghavideldarestani M and Herman I and Rendu J and Faure J and Baker J and Bhambhani V and Calderwood L and Akhondian J and Imannezhad S and Mirzadeh HS and Hashemi N and Doosti M and Safi M and Ahangari N and Torbati PN and Abedini S and Salpietro V and Gulec EY and Eshaghian S and Ghazavi M and Pascher MT and Vogel M and Abicht A and Moutton S and Bruel AL and Rieubland C and Gallati S and Strom TM and Lochmüller H and Mohammadi MH and Alvi JR and Zackai EH and Keena BA and Skraban CM and Berger SI and Andrew EH and Rahimian E and Morrow MM and Wentzensen IM and Millan F and Henderson LB and Dafsari HS and Jungbluth H and Gomez-Ospina N and McRae A and Peter M and Veltra D and Marinakis NM and Sofocleous C and Ashrafzadeh F and Pehlivan D and Lemke JR and Melki J and Benezit A and Bauer P and Weis D and Lupski JR and Senderek J and Christodoulou J and Chung WK and Goodchild R and Offiah AC and Moreno-De-Luca A and Suri M and Ebrahimi-Fakhari D and Houlden H and Maroofian R},
  year = {2023},
  journal = {Brain : a journal of neurology},
  doi = {10.1093/brain/awad039},
  url = {https://doi.org/10.1093/brain/awad039}
}

RIS

TY  - JOUR
TI  - The clinical and genetic spectrum of autosomal-recessive TOR1A-related disorders.
AU  - Saffari A
AU  - Lau T
AU  - Tajsharghi H
AU  - Karimiani EG
AU  - Kariminejad A
AU  - Efthymiou S
AU  - Zifarelli G
AU  - Sultan T
AU  - Toosi MB
AU  - Sedighzadeh S
AU  - Siu VM
AU  - Ortigoza-Escobar JD
AU  - AlShamsi AM
AU  - Ibrahim S
AU  - Al-Sannaa NA
AU  - Al-Hertani W
AU  - Sandra W
AU  - Tarnopolsky M
AU  - Alavi S
AU  - Li C
AU  - Day-Salvatore DL
AU  - Martínez-González MJ
AU  - Levandoski KM
AU  - Bedoukian E
AU  - Madan-Khetarpal S
AU  - Idleburg MJ
AU  - Menezes MJ
AU  - Siddharth A
AU  - Platzer K
AU  - Oppermann H
AU  - Smitka M
AU  - Collins F
AU  - Lek M
AU  - Shahrooei M
AU  - Ghavideldarestani M
AU  - Herman I
AU  - Rendu J
AU  - Faure J
AU  - Baker J
AU  - Bhambhani V
AU  - Calderwood L
AU  - Akhondian J
AU  - Imannezhad S
AU  - Mirzadeh HS
AU  - Hashemi N
AU  - Doosti M
AU  - Safi M
AU  - Ahangari N
AU  - Torbati PN
AU  - Abedini S
AU  - Salpietro V
AU  - Gulec EY
AU  - Eshaghian S
AU  - Ghazavi M
AU  - Pascher MT
AU  - Vogel M
AU  - Abicht A
AU  - Moutton S
AU  - Bruel AL
AU  - Rieubland C
AU  - Gallati S
AU  - Strom TM
AU  - Lochmüller H
AU  - Mohammadi MH
AU  - Alvi JR
AU  - Zackai EH
AU  - Keena BA
AU  - Skraban CM
AU  - Berger SI
AU  - Andrew EH
AU  - Rahimian E
AU  - Morrow MM
AU  - Wentzensen IM
AU  - Millan F
AU  - Henderson LB
AU  - Dafsari HS
AU  - Jungbluth H
AU  - Gomez-Ospina N
AU  - McRae A
AU  - Peter M
AU  - Veltra D
AU  - Marinakis NM
AU  - Sofocleous C
AU  - Ashrafzadeh F
AU  - Pehlivan D
AU  - Lemke JR
AU  - Melki J
AU  - Benezit A
AU  - Bauer P
AU  - Weis D
AU  - Lupski JR
AU  - Senderek J
AU  - Christodoulou J
AU  - Chung WK
AU  - Goodchild R
AU  - Offiah AC
AU  - Moreno-De-Luca A
AU  - Suri M
AU  - Ebrahimi-Fakhari D
AU  - Houlden H
AU  - Maroofian R
PY  - 2023
JO  - Brain : a journal of neurology
DO  - 10.1093/brain/awad039
UR  - https://doi.org/10.1093/brain/awad039
ER  -

APA

A, S., T, L., H, T., EG, K., A, K., S, E., G, Z., T, S., MB, T., S, S., VM, S., JD, O., AM, A., S, I., NA, A., W, A., W, S., M, T., S, A., C, L., DL, D., MJ, M., KM, L., E, B., S, M., MJ, I., MJ, M., A, S., K, P., H, O., M, S., F, C., M, L., M, S., M, G., I, H., J, R., J, F., J, B., V, B., L, C., J, A., S, I., HS, M., N, H., M, D., M, S., N, A., PN, T., S, A., V, S., EY, G., S, E., M, G., MT, P., M, V., A, A., S, M., AL, B., C, R., S, G., TM, S., H, L., MH, M., JR, A., EH, Z., BA, K., CM, S., SI, B., EH, A., E, R., MM, M., IM, W., F, M., LB, H., HS, D., H, J., N, G., A, M., M, P., D, V., NM, M., C, S., F, A., D, P., JR, L., J, M., A, B., P, B., D, W., JR, L., J, S., J, C., WK, C., R, G., AC, O., A, M., M, S., D, E., H, H., & R, M. (2023). The clinical and genetic spectrum of autosomal-recessive TOR1A-related disorders.. Brain : a journal of neurology. https://doi.org/10.1093/brain/awad039

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pubmed · retrieved 2026-09-26T07:17:46.655Z