PMC Links for Books (Select 1491296) - PMC

Select item 72079891.

Genetic prion disease: experience of a rapidly progressive dementia center in the United States and a review of the literature

Leonel T. Takada, Mee-Ohk Kim, Ross W. Cleveland, Katherine Wong, Sven A. Forner, Ignacio Illán Gala, Jamie C. Fong, Michael D. Geschwind

Am J Med Genet B Neuropsychiatr Genet. Author manuscript; available in PMC 2020 May 8.

Published in final edited form as: Am J Med Genet B Neuropsychiatr Genet. 2017 Jan; 174(1): 36–69. doi: 10.1002/ajmg.b.32505

PMCID:: PMC7207989

Article PDF–1.1M

Select item 59325892.

Genetic PrP Prion Diseases

Mee-Ohk Kim, Leonel T. Takada, Katherine Wong, Sven A. Forner, Michael D. Geschwind

Cold Spring Harb Perspect Biol. 2018 May; 10(5): a033134. doi: 10.1101/cshperspect.a033134

PMCID:: PMC5932589

Article PDF–2.7M

Select item 52844863.

Doxycycline in early CJD: a double-blinded randomised phase II and observational study

Daniela Varges, Henrike Manthey, Uta Heinemann, Claudia Ponto, Matthias Schmitz, Walter J Schulz-Schaeffer, Anna Krasnianski, Maren Breithaupt, Fabian Fincke, Katharina Kramer, Tim Friede, Inga Zerr

J Neurol Neurosurg Psychiatry. 2017 Feb; 88(2): 119–125. Published online 2016 Nov 2. doi: 10.1136/jnnp-2016-313541

PMCID:: PMC5284486

Article PDF–774K

Select item 48799774.

Rapidly Progressive Dementia

Michael D. Geschwind

Continuum (Minneap Minn) 2016 Apr; 22(2 Dementia): 510–537. doi: 10.1212/CON.0000000000000319

PMCID:: PMC4879977

Article PDF–7.2M

Select item 47319255.

Timing, rates and spectra of human germline mutation

Raheleh Rahbari, Arthur Wuster, Sarah J. Lindsay, Robert J. Hardwick, Ludmil B. Alexandrov, Saeed Al Turki, Anna Dominiczak, Andrew Morris, David Porteous, Blair Smith, Michael R. Stratton, UK10K Consortium, Matthew E. Hurles

Nat Genet. Author manuscript; available in PMC 2016 Jun 14.

Published in final edited form as: Nat Genet. 2016 Feb; 48(2): 126–133. Published online 2015 Dec 14. doi: 10.1038/ng.3469

PMCID:: PMC4731925

Article PDF–1.6M

Select item 45447536.

Standards and Guidelines for the Interpretation of Sequence Variants: A Joint Consensus Recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology

Sue Richards, Nazneen Aziz, Sherri Bale, David Bick, Soma Das, Julie Gastier-Foster, Wayne W. Grody, Madhuri Hegde, Elaine Lyon, Elaine Spector, Karl Voelkerding, Heidi L. Rehm

Genet Med. Author manuscript; available in PMC 2015 Nov 1.

Published in final edited form as: Genet Med. 2015 May; 17(5): 405–424. Published online 2015 Mar 5. doi: 10.1038/gim.2015.30

PMCID:: PMC4544753

Article PDF–960K

Select item 22299757.

Complete penetrance of Creutzfeldt-Jakob disease in Libyan Jews carrying the E200K mutation in the prion protein gene.

S. Spudich, J. A. Mastrianni, M. Wrensch, R. Gabizon, Z. Meiner, I. Kahana, H. Rosenmann, E. Kahana, S. B. Prusiner

Mol Med. 1995 Sep; 1(6): 607–613.

PMCID:: PMC2229975

Summary Page Browse PDF–912K

Select item 13778308.

Ancestral origins and worldwide distribution of the PRNP 200K mutation causing familial Creutzfeldt-Jakob disease.

H S Lee, N Sambuughin, L Cervenakova, J Chapman, M Pocchiari, S Litvak, H Y Qi, H Budka, T del Ser, H Furukawa, P Brown, D C Gajdusek, J C Long, A D Korczyn, L G Goldfarb

Am J Hum Genet. 1999 Apr; 64(4): 1063–1070. doi: 10.1086/302340

PMCID:: PMC1377830

Summary PDF–251K

Select item 339189.

Prions

Stanley B. Prusiner

Proc Natl Acad Sci U S A. 1998 Nov 10; 95(23): 13363–13383. doi: 10.1073/pnas.95.23.13363

PMCID:: PMC33918

Article PDF–1007K

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