Proposal of new diagnostic criteria for fatal familial insomnia

[1]  Yue Cui,et al.  Clinical profile of fatal familial insomnia: phenotypic variation in 129 polymorphisms and geographical regions , 2021, Journal of Neurology, Neurosurgery, and Psychiatry.

[2]  B. Caughey,et al.  Biomarkers and diagnostic guidelines for sporadic Creutzfeldt-Jakob disease , 2021, The Lancet Neurology.

[3]  D. Zee,et al.  Neuro‐Ophthalmological Findings in Early Fatal Familial Insomnia , 2021, Annals of neurology.

[4]  F. Provini,et al.  Differentiating Oneiric Stupor in Agrypnia Excitata From Dreaming Disorders , 2020, Frontiers in Neurology.

[5]  A. Mahadevan,et al.  A Case of Autosomal Dominant Ataxia with Vocal Cord Palsy Attributed to a Mutation in the PRNP Gene , 2020, Movement disorders clinical practice.

[6]  F. Provini,et al.  Fatal familial insomnia and Agrypnia Excitata: Autonomic dysfunctions and pathophysiological implications , 2019, Autonomic Neuroscience.

[7]  S. Gauthier,et al.  Expert Consensus on Clinical Diagnostic Criteria for Fatal Familial Insomnia , 2018, Chinese medical journal.

[8]  G. Povedano,et al.  FAMILIAL CREUTZFELD JACOB DISEASE: A CASE REPORT , 2018, Alzheimer's & Dementia.

[9]  Cao Chen,et al.  Epidemiological characteristics of human prion diseases , 2016, Infectious Diseases of Poverty.

[10]  H. Kretzschmar,et al.  A proposal of new diagnostic pathway for fatal familial insomnia , 2013, Journal of Neurology, Neurosurgery & Psychiatry.

[11]  P. Cortelli,et al.  Oneiric stupor: the peculiar behaviour of agrypnia excitata. , 2011, Sleep medicine.

[12]  Steven J Collins,et al.  Ultrasensitive human prion detection in cerebrospinal fluid by real-time quaking-induced conversion , 2011, Nature Medicine.

[13]  Megan M. Tschudy,et al.  Research and Statistics , 2009, Pediatrics In Review.

[14]  Qiang Shi,et al.  Human prion disease with a G114V mutation and epidemiological studies in a Chinese family: a case series , 2008, Journal of medical case reports.

[15]  U. Heinemann,et al.  Fatal familial insomnia: Clinical features and early identification , 2008, Annals of neurology.

[16]  Shu G. Chen,et al.  Sporadic and familial CJD: classification and characterisation. , 2003, British medical bulletin.

[17]  S. Prusiner,et al.  Perspectives on prion biology, prion disease pathogenesis, and pharmacologic approaches to treatment. , 2003, Clinics in laboratory medicine.

[18]  P. Montagna,et al.  Agrypnia Excitata: a generalized overactivity syndrome and a useful concept in the neurophysiopathology of sleep , 2002, Clinical Neurophysiology.

[19]  B. Ghetti,et al.  Insomnia associated with thalamic involvement in E200K Creutzfeldt–Jakob disease , 2002, Neurology.

[20]  Stanley B. Prusiner,et al.  The Priori Diseases , 1998 .

[21]  H. Budka,et al.  The Original Gerstmann‐Sträussler‐Scheinker Family of Austria: Divergent Clinicopathological Phenotypes but Constant PrP Genotype , 1995, Brain pathology.

[22]  A. Lowenthal,et al.  Familial Creutzfeldt-Jakob disease with temporal and spatial separation of affected members , 1990, European Journal of Epidemiology.

[23]  E. Mitrová A case of Creutzfeldt-Jakob disease related to familial retinitis pigmentosa patients , 1988, European Journal of Epidemiology.

[24]  P. Cortelli,et al.  Fatal familial insomnia and dysautonomia with selective degeneration of thalamic nuclei. , 1986, The New England journal of medicine.

[25]  M. T. Pellecchia,et al.  Stridor in multiple system atrophy Consensus statement on diagnosis, prognosis, and treatment , 2019 .

[26]  Federica Provini Agrypnia Excitata , 2013, Current Neurology and Neuroscience Reports.

[27]  O. Kano,et al.  A distinct phenotype of leg hyperreflexia in a Japanese family with Gerstmann-Sträussler-Scheinker syndrome (P102L). , 2010, Internal medicine.

[28]  Marcus W. Brazier,et al.  Human Prion Diseases: Cause, Clinical and Diagnostic Aspects , 2001 .

[29]  C. Sigurdson,et al.  [Prion diseases?]. , 1985, Deutsche medizinische Wochenschrift.