Neurological Phenotypes Associated with AAAS-Related Disorders: Spastic Ataxia and Complex Spastic Paraplegia
Author:
Publisher
Springer Science and Business Media LLC
Subject
Clinical Neurology,Neurology
Link
http://link.springer.com/content/pdf/10.1007/s12311-020-01123-9.pdf
Reference13 articles.
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2. Grant DB, Barnes ND, Dumic M, Ginalska-Malinowska M, Milla PJ, von Petrykowski W, et al. Neurological and adrenal dysfunction in the adrenal insufficiency/alacrima/achalasia (3A) syndrome. Arch Dis Child. 1993;68(6):779–82.
3. Krumbholz M, Koehler K, Huebner A. Cellular localization of 17 natural mutant variants of ALADIN protein in triple a syndrome - shedding light on an unexpected splice mutation. Biochem Cell Biol. 2006;84(2):243–9.
4. Ikeda M, Hirano M, Shinoda K, Katsumata N, Furutama D, Nakamura K, et al. Triple A syndrome in Japan. Muscle Nerve. 2013;48(3):381–6. https://doi.org/10.1002/mus.23770.
5. Dumic M, Barišic N, Kusec V, Stingl K, Skegro M, Stanimirovic A, et al. Long-term clinical follow-up and molecular genetic findings in eight patients with triple a syndrome. Eur J Pediatr. 2012;171(10):1453–9.
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1. Triple-A Syndrome in Morocco: Founder Effect, Age Estimation of the AAAS c.1331+1G>A Variant, and Implications for Genetic Diagnosis;Molecular Syndromology;2023-09-29
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