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Items: 1 to 20 of 341

1.

The discovery of LRRK2 p.R1441S, a novel mutation for Parkinson's disease, adds to the complexity of a mutational hotspot.

Mata IF, Davis MY, Lopez AN, Dorschner MO, Martinez E, Yearout D, Cholerton BA, Hu SC, Edwards KL, Bird TD, Zabetian CP.

Am J Med Genet B Neuropsychiatr Genet. 2017 Jan;174(1):113. doi: 10.1002/ajmg.b.32510. No abstract available.

PMID:
27943640
2.

ADCY5-related dyskinesia: Comments on characteristic manifestations and variant-associated severity.

Raskind WH, Friedman JR, Roze E, Méneret A, Chen DH, Bird TD.

Mov Disord. 2016 Dec 9. doi: 10.1002/mds.26888. [Epub ahead of print] No abstract available.

PMID:
27933653
3.

Hereditary Ataxia Overview.

Bird TD.

In: Pagon RA, Adam MP, Ardinger HH, Wallace SE, Amemiya A, Bean LJH, Bird TD, Ledbetter N, Mefford HC, Smith RJH, Stephens K, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2017.
1998 Oct 28 [updated 2016 Nov 3].

4.

Genetic factors in neurodegenerative diseases.

Tsuang DW, Bird TD.

Am J Med Genet B Neuropsychiatr Genet. 2017 Jan;174(1):3-4. doi: 10.1002/ajmg.b.32504. No abstract available.

PMID:
27770499
5.

TREM2 Haplodeficiency in Mice and Humans Impairs the Microglia Barrier Function Leading to Decreased Amyloid Compaction and Severe Axonal Dystrophy.

Yuan P, Condello C, Keene CD, Wang Y, Bird TD, Paul SM, Luo W, Colonna M, Baddeley D, Grutzendler J.

Neuron. 2016 Oct 5;92(1):252-264. doi: 10.1016/j.neuron.2016.09.016. No abstract available.

PMID:
27710785
6.

Charcot-Marie-Tooth Neuropathy X Type 1.

Bird TD.

In: Pagon RA, Adam MP, Ardinger HH, Wallace SE, Amemiya A, Bean LJH, Bird TD, Ledbetter N, Mefford HC, Smith RJH, Stephens K, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2017.
1998 Jun 18 [updated 2016 Sep 1].

7.

Charcot-Marie-Tooth Hereditary Neuropathy Overview.

Bird TD.

In: Pagon RA, Adam MP, Ardinger HH, Wallace SE, Amemiya A, Bean LJH, Bird TD, Ledbetter N, Mefford HC, Smith RJH, Stephens K, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2017.
1998 Sep 28 [updated 2016 Sep 1].

8.

The Role of Cardiovascular Risk Factors and Stroke in Familial Alzheimer Disease.

Tosto G, Bird TD, Bennett DA, Boeve BF, Brickman AM, Cruchaga C, Faber K, Foroud TM, Farlow M, Goate AM, Graff-Radford NR, Lantigua R, Manly J, Ottman R, Rosenberg R, Schaid DJ, Schupf N, Stern Y, Sweet RA, Mayeux R; National Institute on Aging Late-Onset Alzheimer Disease/National Cell Repository for Alzheimer Disease (NIA-LOAD/NCRAD) Family Study Group..

JAMA Neurol. 2016 Oct 1;73(10):1231-1237. doi: 10.1001/jamaneurol.2016.2539.

9.

The phosphatase calcineurin regulates pathological TDP-43 phosphorylation.

Liachko NF, Saxton AD, McMillan PJ, Strovas TJ, Currey HN, Taylor LM, Wheeler JM, Oblak AL, Ghetti B, Montine TJ, Keene CD, Raskind MA, Bird TD, Kraemer BC.

Acta Neuropathol. 2016 Oct;132(4):545-61. doi: 10.1007/s00401-016-1600-y.

PMID:
27473149
10.

Defining SOD1 ALS natural history to guide therapeutic clinical trial design.

Bali T, Self W, Liu J, Siddique T, Wang LH, Bird TD, Ratti E, Atassi N, Boylan KB, Glass JD, Maragakis NJ, Caress JB, McCluskey LF, Appel SH, Wymer JP, Gibson S, Zinman L, Mozaffar T, Callaghan B, McVey AL, Jockel-Balsarotti J, Allred P, Fisher ER, Lopate G, Pestronk A, Cudkowicz ME, Miller TM.

J Neurol Neurosurg Psychiatry. 2017 Feb;88(2):99-105. doi: 10.1136/jnnp-2016-313521.

PMID:
27261500
11.

Ataxia-Pancytopenia Syndrome Is Caused by Missense Mutations in SAMD9L.

Chen DH, Below JE, Shimamura A, Keel SB, Matsushita M, Wolff J, Sul Y, Bonkowski E, Castella M, Taniguchi T, Nickerson D, Papayannopoulou T, Bird TD, Raskind WH.

Am J Hum Genet. 2016 Jun 2;98(6):1146-58. doi: 10.1016/j.ajhg.2016.04.009.

12.

TREM2 Haplodeficiency in Mice and Humans Impairs the Microglia Barrier Function Leading to Decreased Amyloid Compaction and Severe Axonal Dystrophy.

Yuan P, Condello C, Keene CD, Wang Y, Bird TD, Paul SM, Luo W, Colonna M, Baddeley D, Grutzendler J.

Neuron. 2016 May 18;90(4):724-39. doi: 10.1016/j.neuron.2016.05.003.

PMID:
27196974
13.

The discovery of LRRK2 p.R1441S, a novel mutation for Parkinson's disease, adds to the complexity of a mutational hotspot.

Mata IF, Davis MY, Lopez AN, Dorschner MO, Martinez E, Yearout D, Cholerton BA, Hu SC, Edwards KL, Bird TD, Zabetian CP.

Am J Med Genet B Neuropsychiatr Genet. 2016 Oct;171(7):925-30. doi: 10.1002/ajmg.b.32452. Erratum in: Am J Med Genet B Neuropsychiatr Genet. 2017 Jan;174(1):113.

PMID:
27111571
14.

Charcot-Marie-Tooth Neuropathy Type 4.

Bird TD.

In: Pagon RA, Adam MP, Ardinger HH, Wallace SE, Amemiya A, Bean LJH, Bird TD, Ledbetter N, Mefford HC, Smith RJH, Stephens K, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2017.
1998 Sep 24 [updated 2016 Apr 14].

15.

Charcot-Marie-Tooth Neuropathy Type 2.

Bird TD.

In: Pagon RA, Adam MP, Ardinger HH, Wallace SE, Amemiya A, Bean LJH, Bird TD, Ledbetter N, Mefford HC, Smith RJH, Stephens K, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2017.
1998 Sep 24 [updated 2016 Apr 14].

16.

Novel mutations highlight the key role of the ankyrin repeat domain in TRPV4-mediated neuropathy.

Sullivan JM, Zimanyi CM, Aisenberg W, Bears B, Chen DH, Day JW, Bird TD, Siskind CE, Gaudet R, Sumner CJ.

Neurol Genet. 2015 Oct 22;1(4):e29. doi: 10.1212/NXG.0000000000000029.

17.

Unusually long duration and delayed penetrance in a family with FTD and mutation in MAPT (V337M).

Domoto-Reilly K, Davis MY, Keene CD, Bird TD.

Am J Med Genet B Neuropsychiatr Genet. 2017 Jan;174(1):70-74. doi: 10.1002/ajmg.b.32443.

PMID:
26990251
18.

PRICKLE2 Mutations Might Not Be Involved in Epilepsy.

Sandford E, Bird TD, Li JZ, Burmeister M.

Am J Hum Genet. 2016 Mar 3;98(3):588-9. doi: 10.1016/j.ajhg.2016.01.009. No abstract available.

19.

ADCY5-Related Dyskinesia.

Shaw C, Hisama F, Friedman J, Bird TD.

In: Pagon RA, Adam MP, Ardinger HH, Wallace SE, Amemiya A, Bean LJH, Bird TD, Ledbetter N, Mefford HC, Smith RJH, Stephens K, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2017.
2014 Dec 18 [updated 2015 Dec 17].

20.

ADCY5-related dyskinesia: Broader spectrum and genotype-phenotype correlations.

Chen DH, Méneret A, Friedman JR, Korvatska O, Gad A, Bonkowski ES, Stessman HA, Doummar D, Mignot C, Anheim M, Bernes S, Davis MY, Damon-Perrière N, Degos B, Grabli D, Gras D, Hisama FM, Mackenzie KM, Swanson PD, Tranchant C, Vidailhet M, Winesett S, Trouillard O, Amendola LM, Dorschner MO, Weiss M, Eichler EE, Torkamani A, Roze E, Bird TD, Raskind WH.

Neurology. 2015 Dec 8;85(23):2026-35. doi: 10.1212/WNL.0000000000002058.

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