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Endocrine and Growth Abnormalities in 4H Leukodystrophy Caused by Variants in POLR3A, POLR3B, and POLR1C.
J Clin Endocrinol Metab. 2021 Jan 23;106(2):e660-e674. doi: 10.1210/clinem/dgaa700.
J Clin Endocrinol Metab. 2021.
PMID: 33005949
Free PMC article.
Clinical spectrum of 4H leukodystrophy caused by POLR3A and POLR3B mutations.
Wolf NI, Vanderver A, van Spaendonk RM, Schiffmann R, Brais B, Bugiani M, Sistermans E, Catsman-Berrevoets C, Kros JM, Pinto PS, Pohl D, Tirupathi S, Strømme P, de Grauw T, Fribourg S, Demos M, Pizzino A, Naidu S, Guerrero K, van der Knaap MS, Bernard G; 4H Research Group.
Wolf NI, et al.
Neurology. 2014 Nov 18;83(21):1898-905. doi: 10.1212/WNL.0000000000001002. Epub 2014 Oct 22.
Neurology. 2014.
PMID: 25339210
Free PMC article.
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Isolated progressive muscle weakness with tubular aggregates.
Alonso-Losada G, Cimas I, Pego R, La Torre P, Teijeira S, Navarro C.
Alonso-Losada G, et al. Among authors: cimas i.
Clin Neuropathol. 1998 Jan-Feb;17(1):50-4.
Clin Neuropathol. 1998.
PMID: 9496541
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Paraneoplastic opsoclonus associated with papillary renal cell carcinoma.
Koukoulis A, Cimas I, Gómara S.
Koukoulis A, et al. Among authors: cimas i.
J Neurol Neurosurg Psychiatry. 1998 Jan;64(1):137-8. doi: 10.1136/jnnp.64.1.137.
J Neurol Neurosurg Psychiatry. 1998.
PMID: 9436748
Free PMC article.
No abstract available.
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