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Results: 1 to 20 of 90

1.

Elucidating the genetics and pathology of Perry syndrome.

Wider C, Dachsel JC, Farrer MJ, Dickson DW, Tsuboi Y, Wszolek ZK.

J Neurol Sci. 2010 Feb 15;289(1-2):149-54. doi: 10.1016/j.jns.2009.08.044. Epub 2009 Sep 4.

PMID:
19732908
[PubMed - indexed for MEDLINE]
Free PMC Article
2.

Pallidonigral TDP-43 pathology in Perry syndrome.

Wider C, Dickson DW, Stoessl AJ, Tsuboi Y, Chapon F, Gutmann L, Lechevalier B, Calne DB, Personett DA, Hulihan M, Kachergus J, Rademakers R, Baker MC, Grantier LL, Sujith OK, Brown L, Calne S, Farrer MJ, Wszolek ZK.

Parkinsonism Relat Disord. 2009 May;15(4):281-6. doi: 10.1016/j.parkreldis.2008.07.005. Epub 2008 Aug 23.

PMID:
18723384
[PubMed - indexed for MEDLINE]
Free PMC Article
3.

DCTN1 mutations in Perry syndrome.

Farrer MJ, Hulihan MM, Kachergus JM, Dächsel JC, Stoessl AJ, Grantier LL, Calne S, Calne DB, Lechevalier B, Chapon F, Tsuboi Y, Yamada T, Gutmann L, Elibol B, Bhatia KP, Wider C, Vilariño-Güell C, Ross OA, Brown LA, Castanedes-Casey M, Dickson DW, Wszolek ZK.

Nat Genet. 2009 Feb;41(2):163-5. doi: 10.1038/ng.293. Epub 2009 Jan 11.

PMID:
19136952
[PubMed - indexed for MEDLINE]
Free PMC Article
4.

Japanese family with parkinsonism, depression, weight loss, and central hypoventilation.

Tsuboi Y, Wszolek ZK, Kusuhara T, Doh-ura K, Yamada T.

Neurology. 2002 Apr 9;58(7):1025-30.

PMID:
11940687
[PubMed - indexed for MEDLINE]
5.

Rapidly progressive familial parkinsonism with central hypoventilation, depression and weight loss (Perry syndrome)--a literature review.

Wider C, Wszolek ZK.

Parkinsonism Relat Disord. 2008;14(1):1-7. Epub 2007 Sep 17. Review.

PMID:
17870652
[PubMed - indexed for MEDLINE]
6.

Clinical and pathological features of familial frontotemporal dementia caused by C9ORF72 mutation on chromosome 9p.

Hsiung GY, DeJesus-Hernandez M, Feldman HH, Sengdy P, Bouchard-Kerr P, Dwosh E, Butler R, Leung B, Fok A, Rutherford NJ, Baker M, Rademakers R, Mackenzie IR.

Brain. 2012 Mar;135(Pt 3):709-22. doi: 10.1093/brain/awr354. Epub 2012 Feb 17.

PMID:
22344582
[PubMed - indexed for MEDLINE]
Free PMC Article
7.

A family with Parkinsonism, essential tremor, restless legs syndrome, and depression.

Puschmann A, Pfeiffer RF, Stoessl AJ, Kuriakose R, Lash JL, Searcy JA, Strongosky AJ, Vilariño-Güell C, Farrer MJ, Ross OA, Dickson DW, Wszolek ZK.

Neurology. 2011 May 10;76(19):1623-30. doi: 10.1212/WNL.0b013e318219fb42.

PMID:
21555728
[PubMed - indexed for MEDLINE]
Free PMC Article
8.

Pathological TDP-43 in parkinsonism-dementia complex and amyotrophic lateral sclerosis of Guam.

Geser F, Winton MJ, Kwong LK, Xu Y, Xie SX, Igaz LM, Garruto RM, Perl DP, Galasko D, Lee VM, Trojanowski JQ.

Acta Neuropathol. 2008 Jan;115(1):133-45. Epub 2007 Aug 23.

PMID:
17713769
[PubMed - indexed for MEDLINE]
9.

Characterization of DCTN1 genetic variability in neurodegeneration.

Vilariño-Güell C, Wider C, Soto-Ortolaza AI, Cobb SA, Kachergus JM, Keeling BH, Dachsel JC, Hulihan MM, Dickson DW, Wszolek ZK, Uitti RJ, Graff-Radford NR, Boeve BF, Josephs KA, Miller B, Boylan KB, Gwinn K, Adler CH, Aasly JO, Hentati F, Destée A, Krygowska-Wajs A, Chartier-Harlin MC, Ross OA, Rademakers R, Farrer MJ.

Neurology. 2009 Jun 9;72(23):2024-8. doi: 10.1212/WNL.0b013e3181a92c4c.

PMID:
19506225
[PubMed - indexed for MEDLINE]
Free PMC Article
10.

A novel progranulin mutation associated with variable clinical presentation and tau, TDP43 and alpha-synuclein pathology.

Leverenz JB, Yu CE, Montine TJ, Steinbart E, Bekris LM, Zabetian C, Kwong LK, Lee VM, Schellenberg GD, Bird TD.

Brain. 2007 May;130(Pt 5):1360-74. Epub 2007 Apr 17.

PMID:
17439980
[PubMed - indexed for MEDLINE]
Free Article
11.

Neurodegeneration involving putative respiratory neurons in Perry syndrome.

Tsuboi Y, Dickson DW, Nabeshima K, Schmeichel AM, Wszolek ZK, Yamada T, Benarroch EE.

Acta Neuropathol. 2008 Feb;115(2):263-8. Epub 2007 Jun 19.

PMID:
17576579
[PubMed - indexed for MEDLINE]
12.

Autonomic failures in Perry syndrome with DCTN1 mutation.

Ohshima S, Tsuboi Y, Yamamoto A, Kawakami M, Farrer MJ, Kira J, Shii H.

Parkinsonism Relat Disord. 2010 Nov;16(9):612-4. doi: 10.1016/j.parkreldis.2010.07.001. Epub 2010 Aug 11.

PMID:
20702129
[PubMed - indexed for MEDLINE]
13.

TARDBP mutations in amyotrophic lateral sclerosis with TDP-43 neuropathology: a genetic and histopathological analysis.

Van Deerlin VM, Leverenz JB, Bekris LM, Bird TD, Yuan W, Elman LB, Clay D, Wood EM, Chen-Plotkin AS, Martinez-Lage M, Steinbart E, McCluskey L, Grossman M, Neumann M, Wu IL, Yang WS, Kalb R, Galasko DR, Montine TJ, Trojanowski JQ, Lee VM, Schellenberg GD, Yu CE.

Lancet Neurol. 2008 May;7(5):409-16. doi: 10.1016/S1474-4422(08)70071-1. Epub 2008 Apr 7.

PMID:
18396105
[PubMed - indexed for MEDLINE]
Free PMC Article
14.

The RNA-binding motif 45 (RBM45) protein accumulates in inclusion bodies in amyotrophic lateral sclerosis (ALS) and frontotemporal lobar degeneration with TDP-43 inclusions (FTLD-TDP) patients.

Collins M, Riascos D, Kovalik T, An J, Krupa K, Krupa K, Hood BL, Conrads TP, Renton AE, Traynor BJ, Bowser R.

Acta Neuropathol. 2012 Nov;124(5):717-32. doi: 10.1007/s00401-012-1045-x. Epub 2012 Sep 21.

PMID:
22993125
[PubMed - indexed for MEDLINE]
Free PMC Article
15.

The dynactin p150 subunit: cell biology studies of sequence changes found in ALS/MND and Parkinsonian syndromes.

Stockmann M, Meyer-Ohlendorf M, Achberger K, Putz S, Demestre M, Yin H, Hendrich C, Linta L, Heinrich J, Brunner C, Proepper C, Kuh GF, Baumann B, Langer T, Schwalenstöcker B, Braunstein KE, von Arnim C, Schneuwly S, Meyer T, Wong PC, Boeckers TM, Ludolph AC, Liebau S.

J Neural Transm. 2013 May;120(5):785-98. doi: 10.1007/s00702-012-0910-z. Epub 2012 Nov 11.

PMID:
23143281
[PubMed - indexed for MEDLINE]
16.

TDP-43 pathology in familial frontotemporal dementia and motor neuron disease without Progranulin mutations.

Seelaar H, Schelhaas HJ, Azmani A, Küsters B, Rosso S, Majoor-Krakauer D, de Rijk MC, Rizzu P, ten Brummelhuis M, van Doorn PA, Kamphorst W, Willemsen R, van Swieten JC.

Brain. 2007 May;130(Pt 5):1375-85. Epub 2007 Mar 14.

PMID:
17360763
[PubMed - indexed for MEDLINE]
Free Article
17.

Perry syndrome due to the DCTN1 G71R mutation: a distinctive levodopa responsive disorder with behavioral syndrome, vertical gaze palsy, and respiratory failure.

Newsway V, Fish M, Rohrer JD, Majounie E, Williams N, Hack M, Warren JD, Morris HR.

Mov Disord. 2010 Apr 30;25(6):767-70. doi: 10.1002/mds.22950.

PMID:
20437543
[PubMed - indexed for MEDLINE]
18.

Dynactin subunit p150(Glued) is a neuron-specific anti-catastrophe factor.

Lazarus JE, Moughamian AJ, Tokito MK, Holzbaur EL.

PLoS Biol. 2013 Jul;11(7):e1001611. doi: 10.1371/journal.pbio.1001611. Epub 2013 Jul 16.

PMID:
23874158
[PubMed - indexed for MEDLINE]
Free PMC Article
19.

Enrichment of C-terminal fragments in TAR DNA-binding protein-43 cytoplasmic inclusions in brain but not in spinal cord of frontotemporal lobar degeneration and amyotrophic lateral sclerosis.

Igaz LM, Kwong LK, Xu Y, Truax AC, Uryu K, Neumann M, Clark CM, Elman LB, Miller BL, Grossman M, McCluskey LF, Trojanowski JQ, Lee VM.

Am J Pathol. 2008 Jul;173(1):182-94. doi: 10.2353/ajpath.2008.080003. Epub 2008 Jun 5.

PMID:
18535185
[PubMed - indexed for MEDLINE]
Free PMC Article
20.

Sporadic amyotrophic lateral sclerosis: two pathological patterns shown by analysis of distribution of TDP-43-immunoreactive neuronal and glial cytoplasmic inclusions.

Nishihira Y, Tan CF, Onodera O, Toyoshima Y, Yamada M, Morita T, Nishizawa M, Kakita A, Takahashi H.

Acta Neuropathol. 2008 Aug;116(2):169-82. doi: 10.1007/s00401-008-0385-z. Epub 2008 May 15.

PMID:
18481073
[PubMed - indexed for MEDLINE]

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