Biallelic variants in ARHGAP19 cause a progressive inherited motor-predominant neuropathy.

Dominik N, Efthymiou S, Record CJ, Miao X, Lin RQ, Parmar JM, Scardamaglia A, Maroofian R, Lowe SA, Aughey GN, Wilson AD, Curro R, Schnekenberg RP, Alavi S, Leclaire L, He Y, Zhelcheska K, Bellaïche Y, Gaugué I, Skorupinska M, Van de Vondel L, Da'as SI, Turchetti V, Güngör S, Monahan GV, Ghayoor Karimiani E, Jamshidi Y, Lamont PJ, Armirola-Ricaurte C, Topaloglu H, Jordanova A, Zaman M, Banu SH, Marques W, Tomaselli PJ, Aynekin B, Cansu A, Per H, Güleç A, Alvi JR, Sultan T, Khan A, Zifarelli G, Ibrahim S, Mancini GMS, Motazacker MM, Brusse E, Lupo V, Sevilla T, Başak AN, Tekgul S, Palvadeau RJ, Baets J, Parman Y, Çakar A, Horvath R, Haack TB, Stahl JH, Grundmann-Hauser K, Park J, Zuchner S, Laing NG, Wilson LA, Rossor AM, Polke J, Figueiredo FB, Pessoa A, Kok F, Coimbra-Neto AR, Franca MC Jr, Ravenscroft G, Hamed SA, Chung WK, Pittman AM, Osborn DP, Hanna M, Cortese A, Reilly MM, Jepson JE, Lamarche-Vane N, Houlden H

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DOI: 10.1172/jci184474
Published: 2025 Dec 1
Container: The Journal of clinical investigation
Publisher: Not recorded
Open access: yes

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Cite this work

BibTeX

@article{allodium:10.1172/jci184474,
  title = {Biallelic variants in ARHGAP19 cause a progressive inherited motor-predominant neuropathy.},
  author = {Dominik N and Efthymiou S and Record CJ and Miao X and Lin RQ and Parmar JM and Scardamaglia A and Maroofian R and Lowe SA and Aughey GN and Wilson AD and Curro R and Schnekenberg RP and Alavi S and Leclaire L and He Y and Zhelcheska K and Bellaïche Y and Gaugué I and Skorupinska M and Van de Vondel L and Da'as SI and Turchetti V and Güngör S and Monahan GV and Ghayoor Karimiani E and Jamshidi Y and Lamont PJ and Armirola-Ricaurte C and Topaloglu H and Jordanova A and Zaman M and Banu SH and Marques W and Tomaselli PJ and Aynekin B and Cansu A and Per H and Güleç A and Alvi JR and Sultan T and Khan A and Zifarelli G and Ibrahim S and Mancini GMS and Motazacker MM and Brusse E and Lupo V and Sevilla T and Başak AN and Tekgul S and Palvadeau RJ and Baets J and Parman Y and Çakar A and Horvath R and Haack TB and Stahl JH and Grundmann-Hauser K and Park J and Zuchner S and Laing NG and Wilson LA and Rossor AM and Polke J and Figueiredo FB and Pessoa A and Kok F and Coimbra-Neto AR and Franca MC Jr and Ravenscroft G and Hamed SA and Chung WK and Pittman AM and Osborn DP and Hanna M and Cortese A and Reilly MM and Jepson JE and Lamarche-Vane N and Houlden H},
  year = {2025},
  journal = {The Journal of clinical investigation},
  doi = {10.1172/jci184474},
  url = {https://doi.org/10.1172/jci184474}
}

RIS

TY  - JOUR
TI  - Biallelic variants in ARHGAP19 cause a progressive inherited motor-predominant neuropathy.
AU  - Dominik N
AU  - Efthymiou S
AU  - Record CJ
AU  - Miao X
AU  - Lin RQ
AU  - Parmar JM
AU  - Scardamaglia A
AU  - Maroofian R
AU  - Lowe SA
AU  - Aughey GN
AU  - Wilson AD
AU  - Curro R
AU  - Schnekenberg RP
AU  - Alavi S
AU  - Leclaire L
AU  - He Y
AU  - Zhelcheska K
AU  - Bellaïche Y
AU  - Gaugué I
AU  - Skorupinska M
AU  - Van de Vondel L
AU  - Da'as SI
AU  - Turchetti V
AU  - Güngör S
AU  - Monahan GV
AU  - Ghayoor Karimiani E
AU  - Jamshidi Y
AU  - Lamont PJ
AU  - Armirola-Ricaurte C
AU  - Topaloglu H
AU  - Jordanova A
AU  - Zaman M
AU  - Banu SH
AU  - Marques W
AU  - Tomaselli PJ
AU  - Aynekin B
AU  - Cansu A
AU  - Per H
AU  - Güleç A
AU  - Alvi JR
AU  - Sultan T
AU  - Khan A
AU  - Zifarelli G
AU  - Ibrahim S
AU  - Mancini GMS
AU  - Motazacker MM
AU  - Brusse E
AU  - Lupo V
AU  - Sevilla T
AU  - Başak AN
AU  - Tekgul S
AU  - Palvadeau RJ
AU  - Baets J
AU  - Parman Y
AU  - Çakar A
AU  - Horvath R
AU  - Haack TB
AU  - Stahl JH
AU  - Grundmann-Hauser K
AU  - Park J
AU  - Zuchner S
AU  - Laing NG
AU  - Wilson LA
AU  - Rossor AM
AU  - Polke J
AU  - Figueiredo FB
AU  - Pessoa A
AU  - Kok F
AU  - Coimbra-Neto AR
AU  - Franca MC Jr
AU  - Ravenscroft G
AU  - Hamed SA
AU  - Chung WK
AU  - Pittman AM
AU  - Osborn DP
AU  - Hanna M
AU  - Cortese A
AU  - Reilly MM
AU  - Jepson JE
AU  - Lamarche-Vane N
AU  - Houlden H
PY  - 2025
JO  - The Journal of clinical investigation
DO  - 10.1172/jci184474
UR  - https://doi.org/10.1172/jci184474
ER  -

APA

N, D., S, E., CJ, R., X, M., RQ, L., JM, P., A, S., R, M., SA, L., GN, A., AD, W., R, C., RP, S., S, A., L, L., Y, H., K, Z., Y, B., I, G., M, S., L, V. D. V., SI, D., V, T., S, G., GV, M., E, G. K., Y, J., PJ, L., C, A., H, T., A, J., M, Z., SH, B., W, M., PJ, T., B, A., A, C., H, P., A, G., JR, A., T, S., A, K., G, Z., S, I., GMS, M., MM, M., E, B., V, L., T, S., AN, B., S, T., RJ, P., J, B., Y, P., A, Ç., R, H., TB, H., JH, S., K, G., J, P., S, Z., NG, L., LA, W., AM, R., J, P., FB, F., A, P., F, K., AR, C., Jr, F. M., G, R., SA, H., WK, C., AM, P., DP, O., M, H., A, C., MM, R., JE, J., N, L., & H, H. (2025). Biallelic variants in ARHGAP19 cause a progressive inherited motor-predominant neuropathy.. The Journal of clinical investigation. https://doi.org/10.1172/jci184474

Source records

pubmed · retrieved 2026-09-24T18:57:05.823Z
europe-pmc · retrieved 2026-09-24T18:57:05.843Z