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Results: 1 to 20 of 37

1.

Long-term outcome of deep brain stimulation in fragile X-associated tremor/ataxia syndrome.

Weiss D, Mielke C, Wächter T, Bender B, Liscic RM, Scholten M, Naros G, Plewnia C, Gharabaghi A, Krüger R.

Parkinsonism Relat Disord. 2014 Dec 27. pii: S1353-8020(14)00489-1. doi: 10.1016/j.parkreldis.2014.12.015. [Epub ahead of print]

PMID:
25577024
[PubMed - as supplied by publisher]
2.

First Japanese case of atypical progeroid syndrome/atypical Werner syndrome with heterozygous LMNA mutation.

Motegi S, Yokoyama Y, Uchiyama A, Ogino S, Takeuchi Y, Yamada K, Hattori T, Hashizume H, Ishikawa Y, Goto M, Ishikawa O.

J Dermatol. 2014 Dec;41(12):1047-52. doi: 10.1111/1346-8138.12657. Epub 2014 Oct 20.

PMID:
25327215
[PubMed - in process]
3.

Atypical Aicardi-Goutieres syndrome: is the WRN locus a modifier?

Lessel D, Saha B, Hisama F, Kaymakamzade B, Nurlu G, Gursoy-Özdemir Y, Thiele H, Nürnberg P, Martin GM, Kubisch C, Oshima J.

Am J Med Genet A. 2014 Oct;164A(10):2510-3. doi: 10.1002/ajmg.a.36664. Epub 2014 Jul 2.

PMID:
24989684
[PubMed - in process]
4.

Oxidative stress and antioxidant response in fibroblasts from Werner and atypical Werner syndromes.

Seco-Cervera M, Spis M, García-Giménez JL, Ibañez-Cabellos JS, Velázquez-Ledesma A, Esmorís I, Bañuls S, Pérez-Machado G, Pallardó FV.

Aging (Albany NY). 2014 Mar;6(3):231-45.

PMID:
24799429
[PubMed - in process]
Free PMC Article
5.

Search and insights into novel genetic alterations leading to classical and atypical Werner syndrome.

Oshima J, Hisama FM.

Gerontology. 2014;60(3):239-46. doi: 10.1159/000356030. Epub 2014 Jan 3. Review.

PMID:
24401204
[PubMed - in process]
Free PMC Article
6.

DNA damage accumulation and TRF2 degradation in atypical Werner syndrome fibroblasts with LMNA mutations.

Saha B, Zitnik G, Johnson S, Nguyen Q, Risques RA, Martin GM, Oshima J.

Front Genet. 2013 Jul 5;4:129. doi: 10.3389/fgene.2013.00129. eCollection 2013.

PMID:
23847654
[PubMed]
Free PMC Article
7.

An inherited LMNA gene mutation in atypical Progeria syndrome.

Doubaj Y, De Sandre-Giovannoli A, Vera EV, Navarro CL, Elalaoui SC, Tajir M, Lévy N, Sefiani A.

Am J Med Genet A. 2012 Nov;158A(11):2881-7. doi: 10.1002/ajmg.a.35557. Epub 2012 Sep 18.

PMID:
22991222
[PubMed - indexed for MEDLINE]
8.

Surgical outcomes of scoliosis surgery in Marfan syndrome.

Zenner J, Hitzl W, Meier O, Auffarth A, Koller H.

J Spinal Disord Tech. 2014 Feb;27(1):48-58. doi: 10.1097/BSD.0b013e31824de6f1.

PMID:
22395338
[PubMed - indexed for MEDLINE]
9.

Coronary artery disease in a Werner syndrome-like form of progeria characterized by low levels of progerin, a splice variant of lamin A.

Hisama FM, Lessel D, Leistritz D, Friedrich K, McBride KL, Pastore MT, Gottesman GS, Saha B, Martin GM, Kubisch C, Oshima J.

Am J Med Genet A. 2011 Dec;155A(12):3002-6. doi: 10.1002/ajmg.a.34336. Epub 2011 Nov 7.

PMID:
22065502
[PubMed - indexed for MEDLINE]
10.

Prevalence of metabolic syndrome in patients with schizophrenia, and metabolic changes after 3 months of treatment with antipsychotics--results from a German observational study.

Kraemer S, Minarzyk A, Forst T, Kopf D, Hundemer HP.

BMC Psychiatry. 2011 Nov 1;11:173. doi: 10.1186/1471-244X-11-173.

PMID:
22044502
[PubMed - indexed for MEDLINE]
Free PMC Article
11.

Generation of induced pluripotent stem cell lines from 3 distinct laminopathies bearing heterogeneous mutations in lamin A/C.

Ho JC, Zhou T, Lai WH, Huang Y, Chan YC, Li X, Wong NL, Li Y, Au KW, Guo D, Xu J, Siu CW, Pei D, Tse HF, Esteban MA.

Aging (Albany NY). 2011 Apr;3(4):380-90.

PMID:
21483033
[PubMed - indexed for MEDLINE]
Free PMC Article
12.

Direct actin binding to A- and B-type lamin tails and actin filament bundling by the lamin A tail.

Simon DN, Zastrow MS, Wilson KL.

Nucleus. 2010 May-Jun;1(3):264-72. doi: 10.4161/nucl.1.3.11799. Epub 2010 Mar 11.

PMID:
21327074
[PubMed - indexed for MEDLINE]
Free PMC Article
13.

Early Diagnosis of Werner's Syndrome Using Exome-Wide Sequencing in a Single, Atypical Patient.

Raffan E, Hurst LA, Turki SA, Carpenter G, Scott C, Daly A, Coffey A, Bhaskar S, Howard E, Khan N, Kingston H, Palotie A, Savage DB, O'Driscoll M, Smith C, O'Rahilly S, Barroso I, Semple RK.

Front Endocrinol (Lausanne). 2011 Mar 29;2:8. doi: 10.3389/fendo.2011.00008. eCollection 2011.

PMID:
22654791
[PubMed]
Free PMC Article
14.

[Atypical Werner syndrome: Atypical progeroid syndrome: A case report].

Barrios Sanjuanelo A, Muñoz Otero C.

An Pediatr (Barc). 2010 Aug;73(2):94-7. doi: 10.1016/j.anpedi.2010.02.012. Epub 2010 May 10. Spanish.

PMID:
20452840
[PubMed - indexed for MEDLINE]
Free Article
15.

Ovarian failure and dilated cardiomyopathy due to a novel lamin mutation.

McPherson E, Turner L, Zador I, Reynolds K, Macgregor D, Giampietro PF.

Am J Med Genet A. 2009 Feb 15;149A(4):567-72. doi: 10.1002/ajmg.a.32627.

PMID:
19283854
[PubMed - indexed for MEDLINE]
16.

Novel LMNA gene mutation in a patient with Atypical Werner's Syndrome.

Doh YJ, Kim HK, Jung ED, Choi SH, Kim JG, Kim BW, Lee IK.

Korean J Intern Med. 2009 Mar;24(1):68-72. doi: 10.3904/kjim.2009.24.1.68.

PMID:
19270485
[PubMed - indexed for MEDLINE]
Free PMC Article
17.

Novel LMNA mutation in atypical Werner syndrome presenting with ischemic disease.

Renard D, Fourcade G, Milhaud D, Bessis D, Esteves-Vieira V, Boyer A, Roll P, Bourgeois P, Levy N, De Sandre-Giovannoli A.

Stroke. 2009 Feb;40(2):e11-4. doi: 10.1161/STROKEAHA.108.531780. Epub 2008 Dec 18.

PMID:
19095983
[PubMed - indexed for MEDLINE]
Free Article
18.

[An atypical case of Werner syndrome: epigenetic control and DNA damage response alterations].

Smirnova NV, Spivak NM, Pleskach NM, Zherebtsov SV, Aksenov NL, Mikhel'son VM.

Tsitologiia. 2008;50(10):868-76. Russian.

PMID:
19062519
[PubMed - indexed for MEDLINE]
19.

[The atypical of Werner syndrome: effect of laminopathy].

Smirnova NV, Spivak IM, Pleskach NM, Mikhel'son VM.

Tsitologiia. 2008;50(9):780-7. Russian.

PMID:
18959190
[PubMed - indexed for MEDLINE]
20.

Atypical meningioma in Werner syndrome: a case report.

Marton E, Bonaldi L, Busato S, Longatti P.

J Neurooncol. 2006 Sep;79(2):181-5. Epub 2006 Apr 6.

PMID:
16598422
[PubMed - indexed for MEDLINE]

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