Format
Sort by
Items per page

Send to

Choose Destination

Links from PubMed

Items: 1 to 20 of 117

1.

X-Linked Dystonia-Parkinsonism.

Evidente VGH.

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.
2005 Dec 13 [updated 2015 Apr 23].

2.

X-linked dystonia parkinsonism: clinical phenotype, genetics and therapeutics.

Rosales RL.

J Mov Disord. 2010 Oct;3(2):32-8. doi: 10.14802/jmd.10009. Epub 2010 Oct 30. Review.

3.

PLA2G6-Associated Neurodegeneration.

Gregory A, Kurian MA, Maher ER, Hogarth P, Hayflick SJ.

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.
2008 Jun 19 [updated 2017 Mar 23].

4.

Phenotypic and molecular analyses of X-linked dystonia-parkinsonism ("lubag") in women.

Evidente VG, Nolte D, Niemann S, Advincula J, Mayo MC, Natividad FF, Müller U.

Arch Neurol. 2004 Dec;61(12):1956-9.

PMID:
15596620
5.

The natural history of sex-linked recessive dystonia parkinsonism of Panay, Philippines (XDP).

Lee LV, Maranon E, Demaisip C, Peralta O, Borres-Icasiano R, Arancillo J, Rivera C, Munoz E, Tan K, Reyes MT.

Parkinsonism Relat Disord. 2002 Oct;9(1):29-38. Review.

PMID:
12217620
6.

Dystonia/Parkinsonism, Hypermanganesemia, Polycythemia, and Chronic Liver Disease.

Tuschl K, Clayton PT, Gospe SM Jr, Mills PB.

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.
2012 Aug 30 [updated 2017 Feb 9].

7.

Dystrophinopathies.

Darras BT, Miller DT, Urion DK.

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.
2000 Sep 5 [updated 2014 Nov 26].

8.

Genetic study of an American family with DYT3 dystonia (lubag).

Deng H, Le WD, Jankovic J.

Neurosci Lett. 2008 Dec 26;448(2):180-3. doi: 10.1016/j.neulet.2008.10.049. Epub 2008 Oct 21.

PMID:
18952144
9.

GTP Cyclohydrolase 1-Deficient Dopa-Responsive Dystonia.

Furukawa Y.

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.
2002 Feb 21 [updated 2015 Mar 5].

10.

X-linked dystonia parkinsonism syndrome (XDP, lubag): disease-specific sequence change DSC3 in TAF1/DYT3 affects genes in vesicular transport and dopamine metabolism.

Herzfeld T, Nolte D, Grznarova M, Hofmann A, Schultze JL, Müller U.

Hum Mol Genet. 2013 Mar 1;22(5):941-51. doi: 10.1093/hmg/dds499. Epub 2012 Nov 25.

PMID:
23184149
11.

Mucopolysaccharidosis Type II.

Scarpa M.

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.
2007 Nov 6 [updated 2015 Mar 26].

12.

The unique phenomenology of sex-linked dystonia parkinsonism (XDP, DYT3, "Lubag").

Lee LV, Rivera C, Teleg RA, Dantes MB, Pasco PM, Jamora RD, Arancillo J, Villareal-Jordan RF, Rosales RL, Demaisip C, Maranon E, Peralta O, Borres R, Tolentino C, Monding MJ, Sarcia S.

Int J Neurosci. 2011;121 Suppl 1:3-11. doi: 10.3109/00207454.2010.526728. Epub 2010 Nov 3. Review.

PMID:
21047175
13.

X-Linked Severe Combined Immunodeficiency.

Allenspach E, Rawlings DJ, Scharenberg AM.

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.
2003 Aug 26 [updated 2016 Apr 14].

14.

Chorea-Acanthocytosis.

Velayos Baeza A, Dobson-Stone C, Rampoldi L, Bader B, Walker RH, Danek A, Monaco AP.

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.
2002 Jun 14 [updated 2014 Jan 30].

15.

Deafness-Dystonia-Optic Neuronopathy Syndrome.

Tranebjærg L.

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.
2003 Feb 6 [updated 2013 Jan 31].

16.

Alport Syndrome and Thin Basement Membrane Nephropathy.

Kashtan CE.

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.
2001 Aug 28 [updated 2015 Nov 25].

17.

X-Linked Adrenoleukodystrophy.

Steinberg SJ, Moser AB, Raymond GV.

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.
1999 Mar 26 [updated 2015 Apr 9].

18.

Glucose Transporter Type 1 Deficiency Syndrome.

Wang D, Pascual JM, De Vivo D.

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.
2002 Jul 30 [updated 2015 Jan 22].

19.

Decreased N-TAF1 expression in X-linked dystonia-parkinsonism patient-specific neural stem cells.

Ito N, Hendriks WT, Dhakal J, Vaine CA, Liu C, Shin D, Shin K, Wakabayashi-Ito N, Dy M, Multhaupt-Buell T, Sharma N, Breakefield XO, Bragg DC.

Dis Model Mech. 2016 Apr;9(4):451-62. doi: 10.1242/dmm.022590. Epub 2016 Jan 14.

20.

Dent Disease.

Lieske JC, Milliner DS, Beara-Lasic L, Harris P, Hopp K, Cogal A, Mattison K.

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.
2012 Aug 9 [updated 2014 Sep 25].

Supplemental Content

Support Center