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364 related items for PubMed ID: 10514828
21. Progressive Myoclonus Epilepsy: A Scoping Review of Diagnostic, Phenotypic and Therapeutic Advances. Zimmern V, Minassian B. Genes (Basel); 2024 Jan 27; 15(2):. PubMed ID: 38397161 [Abstract] [Full Text] [Related]
22. SCARB2 mutations in progressive myoclonus epilepsy (PME) without renal failure. Dibbens LM, Michelucci R, Gambardella A, Andermann F, Rubboli G, Bayly MA, Joensuu T, Vears DF, Franceschetti S, Canafoglia L, Wallace R, Bassuk AG, Power DA, Tassinari CA, Andermann E, Lehesjoki AE, Berkovic SF. Ann Neurol; 2009 Oct 27; 66(4):532-6. PubMed ID: 19847901 [Abstract] [Full Text] [Related]
23. Progressive myoclonic epilepsy: A clinical, electrophysiological and pathological study from South India. Sinha S, Satishchandra P, Gayathri N, Yasha TC, Shankar SK. J Neurol Sci; 2007 Jan 15; 252(1):16-23. PubMed ID: 17166519 [Abstract] [Full Text] [Related]
24. Progressive myoclonic epilepsy. Zupanc ML, Legros B. Cerebellum; 2004 Jan 15; 3(3):156-71. PubMed ID: 15543806 [Abstract] [Full Text] [Related]
25. Unstable insertion in the 5' flanking region of the cystatin B gene is the most common mutation in progressive myoclonus epilepsy type 1, EPM1. Lafrenière RG, Rochefort DL, Chrétien N, Rommens JM, Cochius JI, Kälviäinen R, Nousiainen U, Patry G, Farrell K, Söderfeldt B, Federico A, Hale BR, Cossio OH, Sørensen T, Pouliot MA, Kmiec T, Uldall P, Janszky J, Pranzatelli MR, Andermann F, Andermann E, Rouleau GA. Nat Genet; 1997 Mar 15; 15(3):298-302. PubMed ID: 9054946 [Abstract] [Full Text] [Related]
26. A new form of childhood onset, autosomal recessive spinocerebellar ataxia and epilepsy is localized at 16q21-q23. Gribaa M, Salih M, Anheim M, Lagier-Tourenne C, H'mida D, Drouot N, Mohamed A, Elmalik S, Kabiraj M, Al-Rayess M, Almubarak M, Bétard C, Goebel H, Koenig M. Brain; 2007 Jul 15; 130(Pt 7):1921-8. PubMed ID: 17470496 [Abstract] [Full Text] [Related]
27. Progressive myoclonus epilepsies: clinical and genetic aspects. Berkovic SF, Cochius J, Andermann E, Andermann F. Epilepsia; 1993 Jul 15; 34 Suppl 3():S19-30. PubMed ID: 8500430 [Abstract] [Full Text] [Related]
28. Dodecamer repeat expansion in cystatin B gene in progressive myoclonus epilepsy. Lalioti MD, Scott HS, Buresi C, Rossier C, Bottani A, Morris MA, Malafosse A, Antonarakis SE. Nature; 1997 Apr 24; 386(6627):847-51. PubMed ID: 9126745 [Abstract] [Full Text] [Related]
32. Debate: Does genetic information in humans help us treat patients? PRO--genetic information in humans helps us treat patients. CON--genetic information does not help at all. Delgado-Escueta AV, Bourgeois BF. Epilepsia; 2008 Dec 24; 49 Suppl 9():13-24. PubMed ID: 19087113 [Abstract] [Full Text] [Related]