Monoallelic POLR3A Variants Cause Early-Onset Peripheral Neuropathy.

Ramos LLP, Parmar JM, Wijngaard R, Grosz BR, Lazar T, Mateiu L, Vucic S, Kumar KR, Yeow D, Rudaks LI, de Boer L, de Vreugd A, Koolen DA, Gardeitchik T, Cairns A, Iyengar K, Kok F, Figueiredo FB, de Siqueira Carvalho AA, Mageste Barbosa LS, Arantes RR, Rehbein T, Bontrager JE, Wood EP, Sowden JE, Monahan G, Kumaheri M, Cuijt I, Ellis M, Perez-Siles G, McNamara E, van Beek R, Meijers CB, Tournev I, Zuchner S, Wodak SJ, van Karnebeek CDM, Laing N, Semcesen LN, Stroud DA, Herrmann DN, Guergueltcheva V, Kennerson ML, Oud MM, Ravenscroft G, Candayan A, Jordanova A

Open source

DOI
10.1002/ana.78268
Published
2026 Sep
Container
Annals of neurology
Publisher
Not recorded
Open access
yes

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BibTeX

@article{allodium:10.1002/ana.78268,
  title = {Monoallelic POLR3A Variants Cause Early-Onset Peripheral Neuropathy.},
  author = {Ramos LLP and Parmar JM and Wijngaard R and Grosz BR and Lazar T and Mateiu L and Vucic S and Kumar KR and Yeow D and Rudaks LI and de Boer L and de Vreugd A and Koolen DA and Gardeitchik T and Cairns A and Iyengar K and Kok F and Figueiredo FB and de Siqueira Carvalho AA and Mageste Barbosa LS and Arantes RR and Rehbein T and Bontrager JE and Wood EP and Sowden JE and Monahan G and Kumaheri M and Cuijt I and Ellis M and Perez-Siles G and McNamara E and van Beek R and Meijers CB and Tournev I and Zuchner S and Wodak SJ and van Karnebeek CDM and Laing N and Semcesen LN and Stroud DA and Herrmann DN and Guergueltcheva V and Kennerson ML and Oud MM and Ravenscroft G and Candayan A and Jordanova A},
  year = {2026},
  journal = {Annals of neurology},
  doi = {10.1002/ana.78268},
  url = {https://doi.org/10.1002/ana.78268}
}

RIS

TY  - JOUR
TI  - Monoallelic POLR3A Variants Cause Early-Onset Peripheral Neuropathy.
AU  - Ramos LLP
AU  - Parmar JM
AU  - Wijngaard R
AU  - Grosz BR
AU  - Lazar T
AU  - Mateiu L
AU  - Vucic S
AU  - Kumar KR
AU  - Yeow D
AU  - Rudaks LI
AU  - de Boer L
AU  - de Vreugd A
AU  - Koolen DA
AU  - Gardeitchik T
AU  - Cairns A
AU  - Iyengar K
AU  - Kok F
AU  - Figueiredo FB
AU  - de Siqueira Carvalho AA
AU  - Mageste Barbosa LS
AU  - Arantes RR
AU  - Rehbein T
AU  - Bontrager JE
AU  - Wood EP
AU  - Sowden JE
AU  - Monahan G
AU  - Kumaheri M
AU  - Cuijt I
AU  - Ellis M
AU  - Perez-Siles G
AU  - McNamara E
AU  - van Beek R
AU  - Meijers CB
AU  - Tournev I
AU  - Zuchner S
AU  - Wodak SJ
AU  - van Karnebeek CDM
AU  - Laing N
AU  - Semcesen LN
AU  - Stroud DA
AU  - Herrmann DN
AU  - Guergueltcheva V
AU  - Kennerson ML
AU  - Oud MM
AU  - Ravenscroft G
AU  - Candayan A
AU  - Jordanova A
PY  - 2026
JO  - Annals of neurology
DO  - 10.1002/ana.78268
UR  - https://doi.org/10.1002/ana.78268
ER  -

APA

LLP, R., JM, P., R, W., BR, G., T, L., L, M., S, V., KR, K., D, Y., LI, R., L, D. B., A, D. V., DA, K., T, G., A, C., K, I., F, K., FB, F., AA, D. S. C., LS, M. B., RR, A., T, R., JE, B., EP, W., JE, S., G, M., M, K., I, C., M, E., G, P., E, M., R, V. B., CB, M., I, T., S, Z., SJ, W., CDM, V. K., N, L., LN, S., DA, S., DN, H., V, G., ML, K., MM, O., G, R., A, C., & A, J. (2026). Monoallelic POLR3A Variants Cause Early-Onset Peripheral Neuropathy.. Annals of neurology. https://doi.org/10.1002/ana.78268

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