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Items: 1 to 20 of 114

1.

A novel prion disease associated with diarrhea and autonomic neuropathy.

Mead S, Gandhi S, Beck J, Caine D, Gallujipali D, Carswell C, Hyare H, Joiner S, Ayling H, Lashley T, Linehan JM, Al-Doujaily H, Sharps B, Revesz T, Sandberg MK, Reilly MM, Koltzenburg M, Forbes A, Rudge P, Brandner S, Warren JD, Wadsworth JDF, Wood NW, Holton JL, Collinge J.

N Engl J Med. 2013 Nov 14;369(20):1904-14. doi: 10.1056/NEJMoa1214747. Erratum in: N Engl J Med. 2014 Jan 9;370(2):188. Gallujipali, Dillip [corrected to Gajulapalli, Dilip].

2.

Prion disease: A newly identified mutation in prion protein is associated with diarrhoea and autonomic neuropathy.

Bible E.

Nat Rev Neurol. 2014 Jan;10(1):2. doi: 10.1038/nrneurol.2013.249. Epub 2013 Dec 3. No abstract available.

PMID:
24296653
3.

'PrP systemic deposition disease': clinical and pathological characteristics of novel familial prion disease with 2-bp deletion in codon 178.

Matsuzono K, Honda H, Sato K, Morihara R, Deguchi K, Hishikawa N, Yamashita T, Kono S, Ohta Y, Iwaki T, Abe K.

Eur J Neurol. 2016 Jan;23(1):196-200. doi: 10.1111/ene.12905.

PMID:
26768678
4.

Inherited prion disease with an alanine to valine mutation at codon 117 in the prion protein gene.

Mallucci GR, Campbell TA, Dickinson A, Beck J, Holt M, Plant G, de Pauw KW, Hakin RN, Clarke CE, Howell S, Davies-Jones GA, Lawden M, Smith CM, Ince P, Ironside JW, Bridges LR, Dean A, Weeks I, Collinge J.

Brain. 1999 Oct;122 ( Pt 10):1823-37.

PMID:
10506086
5.

Inherited prion encephalopathy associated with the novel PRNP H187R mutation: a clinical study.

Bütefisch CM, Gambetti P, Cervenakova L, Park KY, Hallett M, Goldfarb LG.

Neurology. 2000 Aug 22;55(4):517-22.

PMID:
10953183
6.

A novel PRNP-P105S mutation associated with atypical prion disease and a rare PrPSc conformation.

Tunnell E, Wollman R, Mallik S, Cortes CJ, Dearmond SJ, Mastrianni JA.

Neurology. 2008 Oct 28;71(18):1431-8. doi: 10.1212/01.wnl.0000330237.94742.fa.

7.

Inherited prion disease with six octapeptide repeat insertional mutation--molecular analysis of phenotypic heterogeneity.

Mead S, Poulter M, Beck J, Webb TE, Campbell TA, Linehan JM, Desbruslais M, Joiner S, Wadsworth JD, King A, Lantos P, Collinge J.

Brain. 2006 Sep;129(Pt 9):2297-317.

PMID:
16923955
8.
9.

Familial prion disease with a novel serine to isoleucine mutation at codon 132 of prion protein gene (PRNP).

Hilton DA, Head MW, Singh VK, Bishop M, Ironside JW.

Neuropathol Appl Neurobiol. 2009 Feb;35(1):111-5. doi: 10.1111/j.1365-2990.2008.00964.x. No abstract available.

PMID:
19187063
10.

A novel seven-octapeptide repeat insertion in the prion protein gene (PRNP) in a Dutch pedigree with Gerstmann-Sträussler-Scheinker disease phenotype: comparison with similar cases from the literature.

Jansen C, Voet W, Head MW, Parchi P, Yull H, Verrips A, Wesseling P, Meulstee J, Baas F, van Gool WA, Ironside JW, Rozemuller AJ.

Acta Neuropathol. 2011 Jan;121(1):59-68. doi: 10.1007/s00401-010-0656-3. Epub 2010 Mar 3. Review.

11.

Childhood onset in familial prion disease with a novel mutation in the PRNP gene.

Rogaeva E, Zadikoff C, Ponesse J, Schmitt-Ulms G, Kawarai T, Sato C, Salehi-Rad S, St George-Hyslop P, Lang AE.

Arch Neurol. 2006 Jul;63(7):1016-21.

PMID:
16831973
12.

Familial prion disease in a Hungarian family with a novel 144-base pair insertion in the prion protein gene.

Kovács T, Beck JA, Papp MI, Lantos PL, Arányi Z, Szirmai IG, Farsang M, Stuke A, Csillik A, Collinge J.

J Neurol Neurosurg Psychiatry. 2007 Mar;78(3):321-3.

13.

Inherited prion disease caused by the V210I mutation: transmission to transgenic mice.

Mastrianni JA, Capellari S, Telling GC, Han D, Bosque P, Prusiner SB, DeArmond SJ.

Neurology. 2001 Dec 26;57(12):2198-205.

PMID:
11756597
14.

Novel prion protein insert mutation associated with prolonged neurodegenerative illness.

Lewis V, Collins S, Hill AF, Boyd A, McLean CA, Smith M, Masters CL.

Neurology. 2003 May 27;60(10):1620-4.

PMID:
12771252
15.

Inherited prion disease with A117V mutation of the prion protein gene: a novel Hungarian family.

Kovács GG, Ertsey C, Majtényi C, Jelencsik I, László L, Flicker H, Strain L, Szirmai I, Budka H.

J Neurol Neurosurg Psychiatry. 2001 Jun;70(6):802-5.

16.

The genetics of prion diseases.

Mastrianni JA.

Genet Med. 2010 Apr;12(4):187-95. doi: 10.1097/GIM.0b013e3181cd7374. Review.

PMID:
20216075
17.

A novel mutation (G114V) in the prion protein gene in a family with inherited prion disease.

Rodriguez MM, Peoc'h K, Haïk S, Bouchet C, Vernengo L, Mañana G, Salamano R, Carrasco L, Lenne M, Beaudry P, Launay JM, Laplanche JL.

Neurology. 2005 Apr 26;64(8):1455-7.

PMID:
15851745
18.

Pathologic evidence that the T188R mutation in PRNP is associated with prion disease.

Tartaglia MC, Thai JN, See T, Kuo A, Harbaugh R, Raudabaugh B, Cali I, Sattavat M, Sanchez H, DeArmond SJ, Geschwind MD.

J Neuropathol Exp Neurol. 2010 Dec;69(12):1220-7. doi: 10.1097/NEN.0b013e3181ffc39c.

19.

Familial prion disease with Alzheimer disease-like tau pathology and clinical phenotype.

Jayadev S, Nochlin D, Poorkaj P, Steinbart EJ, Mastrianni JA, Montine TJ, Ghetti B, Schellenberg GD, Bird TD, Leverenz JB.

Ann Neurol. 2011 Apr;69(4):712-20. doi: 10.1002/ana.22264. Epub 2011 Mar 17.

20.

Mutations of the prion protein gene phenotypic spectrum.

Kovács GG, Trabattoni G, Hainfellner JA, Ironside JW, Knight RS, Budka H.

J Neurol. 2002 Nov;249(11):1567-82.

PMID:
12420099

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