戻る
「早戻しボタン」を押すと検索画面に戻ります。 [閉じる]

コーパス検索結果 (１語後でソート)

通し番号をクリックするとPubMedの該当ページを表示します
1 6OS are a novel genetic cause of progressive myoclonus epilepsy.
2 med in 2 unrelated families with progressive myoclonus epilepsy.
3 ata sets for cystic fibrosis and progressive myoclonus epilepsy.
4  disease, Friedreich ataxia, and progressive myoclonus epilepsy.
5        Lafora disease is a fatal progressive myoclonus epilepsy.
6 comprehensively describe the new syndrome of myoclonus epilepsy and ataxia due to potassium channel m
7 nerative disease that results in progressive myoclonus epilepsy and death.
8 n this study CNS tissues from a patient with myoclonus epilepsy and ragged red fibers (MERRF) syndrom
9  Clinical distinction of type A (progressive myoclonus epilepsy) and type B (dementia with motor dist
10 a disease, a fatal teenage-onset progressive myoclonus epilepsy, are caused by mutations in either th
11              Lafora disease is a progressive myoclonus epilepsy caused by mutations in the EPM2A or E
12  disease (LD) is a fatal form of progressive myoclonus epilepsy caused by recessive mutations in eith
13       Lafora disease is a fatal, progressive myoclonus epilepsy caused in ~90% of cases by mutations
14 fora disease is a rare and fatal progressive myoclonus epilepsy characterized by the accumulation of
15 LD) is a teenage-onset inherited progressive myoclonus epilepsy characterized by the accumulations of
16 is an autosomal recessive, fatal progressive myoclonus epilepsy characterized by the intracellular bu
17   Lafora disease (LD) is a fatal progressive myoclonus epilepsy characterized neuropathologically by
18 on but may also be seen in Lafora's disease (myoclonus epilepsy), cyanamide alcohol aversion therapy,
19  CBD of laforin likely result in progressive myoclonus epilepsy due to mis-localization of phosphatas
20 el for human Unverricht-Lundborg progressive myoclonus epilepsy (EPM1) on 21q22.3 nor for spinocerebe
21 5, we mapped a gene for Lafora's progressive myoclonus epilepsy in chromosome 6q23-25.
22 ations in EPM2A or EPM2B a fatal progressive myoclonus epilepsy (Lafora disease).
23                  Lafora disease (progressive myoclonus epilepsy of Lafora type) is an autosomal reces
24         The gene responsible for progressive myoclonus epilepsy of the Unverricht-Lundborg type (EPM1
25                                  Progressive myoclonus epilepsy of the Unverricht-Lundborg type (EPM1
26 ickle 1 (Pk1) is associated with progressive myoclonus epilepsy (PME) in humans, and its reduced gene
27                                  Progressive myoclonus epilepsy (PME) is a syndrome characterized by
28 gregating an autosomal recessive progressive myoclonus epilepsy (PME) with early ataxia.
29                                  Progressive myoclonus epilepsies (PMEs) are a group of rare, inherit
30                                  Progressive myoclonus epilepsies (PMEs) comprise a group of clinical
31 with several features akin to of progressive myoclonus epilepsy such as neuronal ceroid lipofuscinosi
32 ene ( CSTB ) are responsible for progressive myoclonus epilepsy type 1 (EPM1; MIM 254800).
33  The typical presentation was of progressive myoclonus epilepsy with debilitating myoclonic seizures
34 in, leading to neurodegeneration in mice and myoclonus epilepsy with dementia in humans.
35              Lafora disease is a progressive myoclonus epilepsy with onset in the teenage years follo
36 afora disease (LD) is an autosomal recessive myoclonus epilepsy with onset in the teenage years leadi
37              Lafora disease is a progressive myoclonus epilepsy with onset typically in the second de
38 cidosis and stroke-like episodes (MELAS) and myoclonus epilepsy with ragged-red fibers (MERRF).
39 E) resulted, at age 13 years, in progressive myoclonus epilepsy, with many inclusions present in almo