LAFORA'S DISEASE. DISTINCT CLINICO-PATHOLOGIC FORM OF UNVERRICHT'S SYNDROME.

作者信息

SCHWARZ G A, YANOFF M

出版信息

Arch Neurol. 1965 Feb;12:172-88. doi: 10.1001/archneur.1965.00460260062008.

DOI:10.1001/archneur.1965.00460260062008

PMID:14237775

Abstract

摘要

相似文献

LAFORA'S DISEASE. DISTINCT CLINICO-PATHOLOGIC FORM OF UNVERRICHT'S SYNDROME.

Arch Neurol. 1965 Feb;12:172-88. doi: 10.1001/archneur.1965.00460260062008.

Lafora's disease--a distinct genetically determined form of Unverricht's syndrome.

J Genet Hum. 1965 Sep;14(2):235-44.

Cutaneous findings in Unverricht's syndrome. (Progressive familial myoclonic epilepsy).

Arch Dermatol. 1967 Feb;95(2):206-9.

A case of Lafora's disease associated with cardiac arrhythmia.

J Child Neurol. 1999 Nov;14(11):745-6. doi: 10.1177/088307389901401111.

THE RETINAL PATHOLOGY OF LAFORA'S DISEASE: A FORM OF GLYCOPROTEIN-ACID MUCOPOLYSACCHARIDE DYSTROPHY.

Trans Am Acad Ophthalmol Otolaryngol. 1965 Jul-Aug;69:701-8.

[TREATMENT OF EPILEPSY WITH 3-ETHOXYCARBO-5,5-DIPHENYLHYDANTOIN (P-6127), A NEW ANTICONVULSANT].

No To Shinkei. 1964 Nov;16:982-93.

[Lafora disease complicating myoclonus epilepsy. Report of 3 cases].

Riv Neurol. 1980 Sep-Oct;50(5):338-49.

[Liver in progressive myoclonus epilepsy (Lafora's disease) (author's transl)].

Klin Wochenschr. 1974 Jun 15;52(12):559-67. doi: 10.1007/BF01468496.

A new form of childhood onset, autosomal recessive spinocerebellar ataxia and epilepsy is localized at 16q21-q23.

Brain. 2007 Jul;130(Pt 7):1921-8. doi: 10.1093/brain/awm078. Epub 2007 Apr 30.

[CONVULSIVE CRISIS INDUCED BY THE PHOTIC STIMULUS OF THE TELEVISION SCREEN].

Rev Med Hosp Gen (Mex). 1964 Apr;27:223-36.

引用本文的文献

Neuromuscular junction dysfunction in Lafora disease.

Dis Model Mech. 2024 Oct 1;17(10). doi: 10.1242/dmm.050905. Epub 2024 Oct 14.

Myofiber-type-dependent 'boulder' or 'multitudinous pebble' formations across distinct amylopectinoses.

Acta Neuropathol. 2024 Feb 27;147(1):46. doi: 10.1007/s00401-024-02698-x.

Glial Contributions to Lafora Disease: A Systematic Review.

Biomedicines. 2022 Dec 1;10(12):3103. doi: 10.3390/biomedicines10123103.

Glycogen synthase downregulation rescues the amylopectinosis of murine RBCK1 deficiency.

Brain. 2022 Jul 29;145(7):2361-2377. doi: 10.1093/brain/awac017.

Beneficial Effects of Metformin on the Central Nervous System, with a Focus on Epilepsy and Lafora Disease.

Int J Mol Sci. 2021 May 19;22(10):5351. doi: 10.3390/ijms22105351.

FDG-PET assessment and metabolic patterns in Lafora disease.

Eur J Nucl Med Mol Imaging. 2020 Jun;47(6):1576-1584. doi: 10.1007/s00259-019-04647-3. Epub 2019 Dec 19.

Brain Glycogen Structure and Its Associated Proteins: Past, Present and Future.

Adv Neurobiol. 2019;23:17-81. doi: 10.1007/978-3-030-27480-1_2.

Central Nervous System Delivery and Biodistribution Analysis of an Antibody-Enzyme Fusion for the Treatment of Lafora Disease.

Mol Pharm. 2019 Sep 3;16(9):3791-3801. doi: 10.1021/acs.molpharmaceut.9b00396. Epub 2019 Aug 2.

Lafora Disease Masquerading as Hepatic Dysfunction.

Cureus. 2018 Aug 24;10(8):e3197. doi: 10.7759/cureus.3197.

Lafora disease offers a unique window into neuronal glycogen metabolism.

J Biol Chem. 2018 May 11;293(19):7117-7125. doi: 10.1074/jbc.R117.803064. Epub 2018 Feb 26.

文献AI研究员

20分钟写一篇综述，助力文献阅读效率提升50倍。

立即体验

用中文搜PubMed

大模型驱动的PubMed中文搜索引擎

马上搜索

文档翻译

学术文献翻译模型，支持多种主流文档格式。

立即体验