全部文献期刊会议图书|学者科研项目
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作者:H. P. H. Kremer , A. Keyser ...
来源:[J].Journal of Neurology(IF 3.578), 1993, Vol.240 (4), pp.219-222
摘要:Abstract(#br)Two previously healthy women are described who in their late thirties suffered transient strokelike episodes, consisting of initial headache and vomiting, with various subsequent neurological signs that were only partially reversible. Investigations revealed elevated...
作者:... P. Naarding , T. Stor , H. P. H. Kremer
来源:[J].Journal of Neurology(IF 3.578), 2004, Vol.251 (4), pp.454-457
摘要:Abstract. (#br)Until now, only three patients with Huntington’s disease(HD) and a neuroleptic malignant syndrome (NMS) have beenreported in the literature. We describe four cases with advancedstage Huntington’s disease who within a period of one yeardeveloped drug-induced hy...
作者:H. P. H. Kremer , Q. H. Leijten ...
来源:[J].Journal of Neurology(IF 3.578), 2007, Vol.254 (10), pp.1356-1358
摘要:Abstract(#br)Cerebellar ataxia can have many genetic causes among which are the congenital disorders of glycosylation type I (CDG-I). In this group of disorders, a multisystem phenotype is generally observed including the involvement of many organs, the endocrine, hematologic and...
作者:... Corien C. Verschuuren-Bemelmans , H. P. H. Kremer , Richard J. Sinke
来源:[J].Human Genetics(IF 4.633), 2005, Vol.117 (1), pp.88-91
摘要:Abstract(#br)Missense mutations in the PRKCG gene have recently been identified in spinocerebellar ataxia 14 (SCA14) patients; these include the Gly118Asp mutation that we found in a large Dutch autosomal dominant cerebellar ataxia (ADCA) family. We subsequently screened the curr...
作者:H. P. H. Kremer , S. Marie ...
来源:[J].European Journal of Clinical Microbiology & Infectious Diseases(IF 3.024), 1989, Vol.8 (8), pp.695-700
摘要:Abstract(#br)A retrospective study was performed to review the clinical features and outcome of 39 episodes of pneumococcal meningitis in 36 adult patients over a 12-year period. Overall mortality was 33.3%. Only a few of the deaths were directly related to the central nervous sy...
作者:H. P. H. Kremer , E. J. Kamsteeg
来源:[J].Journal of Neurology(IF 3.578), 2013, Vol.260 (3), pp.869-875
摘要:Abstract(#br) SPAST mutations are the most common cause of autosomal dominant hereditary spastic paraplegias (AD-HSPs), but many spastic paraplegia patients are found to carry no mutations in this gene. In order to assess the contribution of ATL1 and REEP1 in AD-HSP, we performed...
作者:H. P. H. Kremer , Jan H. Veldink ...
来源:[J].Brain(IF 9.915), 2012, Vol.135 (10), pp.2994-3004
摘要:Spastic paraplegia type 7 is an autosomal recessive neurodegenerative disorder mainly characterized by progressive bilateral lower limb spasticity and referred to as a form of hereditary spastic paraplegia. Additional disease features may also be observed as part of a more comple...

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