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Items: 1 to 20 of 33

1.

Perry Syndrome.

Wszolek Z, Konno T.

In: Adam MP, Ardinger HH, Pagon RA, Wallace SE, Bean LJH, Stephens K, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2018.
2010 Sep 30 [updated 2016 Sep 29].

2.

Congenital Central Hypoventilation Syndrome.

Weese-Mayer DE, Marazita ML, Rand CM, Berry-Kravis EM.

In: Adam MP, Ardinger HH, Pagon RA, Wallace SE, Bean LJH, Stephens K, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2018.
2004 Jan 28 [updated 2014 Jan 30].

3.

Three families with Perry syndrome from distinct parts of the world.

Tacik P, Fiesel FC, Fujioka S, Ross OA, Pretelt F, Castañeda Cardona C, Kidd A, Hlavac M, Raizis A, Okun MS, Traynor S, Strongosky AJ, Springer W, Wszolek ZK.

Parkinsonism Relat Disord. 2014 Aug;20(8):884-8. doi: 10.1016/j.parkreldis.2014.05.004. Epub 2014 May 13.

4.

VPS35-Related Parkinson Disease.

Deutschländer A, Ross OA, Wszolek ZK.

In: Adam MP, Ardinger HH, Pagon RA, Wallace SE, Bean LJH, Stephens K, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2018.
2017 Aug 10.

5.

RRM2B-Related Mitochondrial Disease.

Gorman GS, Taylor RW.

In: Adam MP, Ardinger HH, Pagon RA, Wallace SE, Bean LJH, Stephens K, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2018.
2014 Apr 17.

6.

Tyrosine Hydroxylase Deficiency.

Furukawa Y, Kish S.

In: Adam MP, Ardinger HH, Pagon RA, Wallace SE, Bean LJH, Stephens K, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2018.
2008 Feb 8 [updated 2017 May 11].

7.

Congenital Muscular Dystrophy Overview.

Sparks SE, Quijano-Roy S, Harper A, Rutkowski A, Gordon E, Hoffman EP, Pegoraro E.

In: Adam MP, Ardinger HH, Pagon RA, Wallace SE, Bean LJH, Stephens K, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2018.
2001 Jan 22 [updated 2012 Aug 23].

8.

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
9.

CLCN7-Related Osteopetrosis.

Sobacchi C, Villa A, Schulz A, Kornak U.

In: Adam MP, Ardinger HH, Pagon RA, Wallace SE, Bean LJH, Stephens K, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2018.
2007 Feb 12 [updated 2016 Jun 9].

10.

GRIN2A-Related Speech Disorders and Epilepsy.

Myers KA, Scheffer IE.

In: Adam MP, Ardinger HH, Pagon RA, Wallace SE, Bean LJH, Stephens K, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2018.
2016 Sep 29.

11.

Permanent Neonatal Diabetes Mellitus.

De León DD, Stanley CA.

In: Adam MP, Ardinger HH, Pagon RA, Wallace SE, Bean LJH, Stephens K, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2018.
2008 Feb 8 [updated 2016 Jul 29].

12.

Neuroferritinopathy.

Chinnery PF.

In: Adam MP, Ardinger HH, Pagon RA, Wallace SE, Bean LJH, Stephens K, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2018.
2005 Apr 25 [updated 2018 Jan 18].

13.

TARDBP-Related Amyotrophic Lateral Sclerosis.

Harms MM, Miller TM, Baloh RH.

In: Adam MP, Ardinger HH, Pagon RA, Wallace SE, Bean LJH, Stephens K, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2018.
2009 Apr 23 [updated 2015 Mar 12].

14.

MYH9-Related Disorders.

Savoia A, Pecci A.

In: Adam MP, Ardinger HH, Pagon RA, Wallace SE, Bean LJH, Stephens K, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2018.
2008 Nov 20 [updated 2015 Jul 16].

15.

Establishing diagnostic criteria for Perry syndrome.

Mishima T, Fujioka S, Tomiyama H, Yabe I, Kurisaki R, Fujii N, Neshige R, Ross OA, Farrer MJ, Dickson DW, Wszolek ZK, Hattori N, Tsuboi Y.

J Neurol Neurosurg Psychiatry. 2018 May;89(5):482-487. doi: 10.1136/jnnp-2017-316864. Epub 2017 Oct 31.

16.

EZH2-Related Overgrowth.

Tatton-Brown K, Rahman N.

In: Adam MP, Ardinger HH, Pagon RA, Wallace SE, Bean LJH, Stephens K, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2018.
2013 Jul 18 [updated 2015 Aug 6].

17.

Emery-Dreifuss Muscular Dystrophy.

Bonne G, Leturcq F, Ben Yaou R.

In: Adam MP, Ardinger HH, Pagon RA, Wallace SE, Bean LJH, Stephens K, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2018.
2004 Sep 29 [updated 2015 Nov 25].

18.

DCTN1 F52L mutation case of Perry syndrome with progressive supranuclear palsy-like tauopathy.

Honda H, Sasagasako N, Shen C, Shijo M, Hamasaki H, Suzuki SO, Tsuboi Y, Fujii N, Iwaki T.

Parkinsonism Relat Disord. 2018 Feb 23. pii: S1353-8020(18)30090-7. doi: 10.1016/j.parkreldis.2018.02.038. [Epub ahead of print]

PMID:
29499916
19.

Parkin Type of Early-Onset Parkinson Disease.

Brüggemann N, Klein C.

In: Adam MP, Ardinger HH, Pagon RA, Wallace SE, Bean LJH, Stephens K, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2018.
2001 Apr 17 [updated 2013 Apr 4].

20.

Huntington Disease-Like 2.

Margolis RL.

In: Adam MP, Ardinger HH, Pagon RA, Wallace SE, Bean LJH, Stephens K, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2018.
2004 Jan 30 [updated 2012 Apr 26].

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