Genetic heterogeneity of neuronal intranuclear inclusion disease: What about the infantile variant?

. 2021 Apr ; 8 (4) : 994-1001. [epub] 20210329

Jazyk angličtina Země Spojené státy americké Médium print-electronic

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Chen Z, Yan Yau W, Jaunmuktane Z, et al. Neuronal intranuclear inclusion disease is genetically heterogeneous. Ann Clin Transl Neurol. 2020;7(9):1716–1725. PubMed PMC

Sone J, Mitsuhashi S, Fujita A, et al. Long‐read sequencing identifies GGC repeat expansions in NOTCH2NLC associated with neuronal intranuclear inclusion disease. Nat Genet. 2019;51(8):1215–1221. PubMed

Ishiura H, Shibata S, Yoshimura J, et al. Noncoding CGG repeat expansions in neuronal intranuclear inclusion disease, oculopharyngodistal myopathy and an overlapping disease. Nat Genet. 2019;51(8):1222–1232. PubMed

Tian Y, Wang JL, Huang W, et al. Expansion of human‐specific GGC repeat in neuronal intranuclear inclusion disease‐related disorders. Am J Hum Genet. 2019;105(1):166–176. PubMed PMC

Deng J, Gu M, Miao Y, et al. Long‐read sequencing identified repeat expansions in the 5'UTR of the NOTCH2NLC gene from Chinese patients with neuronal intranuclear inclusion disease. J Med Genet. 2019;56(11):758–764. PubMed

Jedlickova I, Pristoupilova A, Hulkova H, et al. NOTCH2NLC CGG repeats are not expanded and skin biopsy was negative in an infantile patient with neuronal intranuclear inclusion disease. J Neuropathol Exp Neurol. 2020;79(10):1065–1071. PubMed

Takahashi‐Fujigasaki J. Neuronal intranuclear hyaline inclusion disease. Neuropathology. 2003;23(4):351–359. PubMed

Mano T, Takizawa S, Mohri I, et al. Neuronal intranuclear hyaline inclusion disease with rapidly progressive neurological symptoms. J Child Neurol. 2007;22(1):60–66. PubMed

McFadden K, Hamilton RL, Insalaco SJ, et al. Neuronal intranuclear inclusion disease without polyglutamine inclusions in a child. J Neuropathol Exp Neurol. 2005;64(6):545–552. PubMed PMC

Pilson K, Farrell M, Lynch B, Devaney D. A case of juvenile onset neuronal intranuclear inclusion disease with a negative antemortem skin biopsy. Pediatr Dev Pathol. 2018;21(5):494–496. PubMed

Patel H, Norman MG, Perry TL, Berry KE. Multiple system atrophy with neuronal intranuclear hyaline inclusions. Report of a case and review of the literature. J Neurol Sci. 1985;67(1):57–65. PubMed

Sloane AE, Becker LE, Ang LC, Wark J, Haslam RH. Neuronal intranuclear hyaline inclusion disease with progressive cerebellar ataxia. Pediatr Neurol. 1994;10(1):61–66. PubMed

Oyer CE, Cortez S, O'Shea P, Popovic M. Cardiomyopathy and myocyte intranuclear inclusions in neuronal intranuclear inclusion disease: a case report. Hum Pathol. 1991;22(7):722–724. PubMed

Garen PD, Powers JM, Young GF, Lee V. Neuronal intranuclear hyaline inclusion disease in a nine year old. Acta Neuropathol. 1986;70(3–4):327–332. PubMed

Sone J, Mori K, Inagaki T, et al. Clinicopathological features of adult‐onset neuronal intranuclear inclusion disease. Brain. 2016;139(Pt 12):3170–3186. PubMed PMC

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