Case of fatal familial insomnia caused by a d178n mutation with phenotypic similarity to Hashimoto's encephalopathy

scientific article published on 15 July 2018

Case of fatal familial insomnia caused by a d178n mutation with phenotypic similarity to Hashimoto's encephalopathy is …
instance of (P31):
scholarly articleQ13442814

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P356DOI10.1136/BCR-2018-225155
P932PMC publication ID6047710
P698PubMed publication ID30012679

P50authorGholam K MotamediQ90253071
P2093author name stringMatthew R Levine
Anne E Constantino
Jessica M Stevens
P2860cites workFirst experimental transmission of fatal familial insomniaQ48808046
Fatal familial insomnia and familial Creutzfeldt-Jakob disease: disease phenotype determined by a DNA polymorphismQ48882672
Fatal familial insomnia, a prion disease with a mutation at codon 178 of the prion protein geneQ28181555
Shattuck lecture--neurodegenerative diseases and prionsQ28189500
Human prion protein cDNA: molecular cloning, chromosomal mapping, and biological implicationsQ28287513
Steroid-responsive encephalopathy associated with autoimmune thyroiditisQ28297234
A proposal of new diagnostic pathway for fatal familial insomniaQ30437216
Hashimoto's encephalopathy and autoantibodiesQ30613840
Clinical Features and Sleep Analysis of Chinese Patients with Fatal Familial InsomniaQ33804035
Symptomatic aggravation after corticosteroid pulse therapy in definite sporadic Creutzfeldt-Jakob disease with the feature of Hashimoto's encephalopathyQ34233652
Phenotypic variability in familial prion diseases due to the D178N mutation.Q35484873
Steroid-responsive encephalopathy associated with autoimmune thyroiditis (SREAT): Characteristics, treatment and outcome in 251 cases from the literatureQ36136461
A clinical approach to diagnosis of autoimmune encephalitis.Q37343730
The genetics of prion diseasesQ37705846
Discordant clinicopathologic phenotypes in a Japanese kindred of fatal familial insomniaQ43206143
Fatal familial insomnia: the first account in a family of Chinese descentQ44734521
Dissociation in circadian rhythms in a pseudohypersomnia form of fatal familial insomniaQ45205199
Prominent corticosteroid disturbance in experimental prion diseaseQ48480256
P921main subjectfatal familial insomniaQ862872
Hashimoto's encephalopathyQ4532132
P577publication date2018-07-15
P1433published inBMJ case reportsQ27723081
P1476titleCase of fatal familial insomnia caused by a d178n mutation with phenotypic similarity to Hashimoto's encephalopathy
P478volume2018

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