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Items: 1 to 20 of 142

1.

Familial amyloid polyneuropathy associated with the novel transthyretin variant Arg34Gly.

Levy J, Hawkins PN, Rowczenio D, Godfrey T, Stawell R, Zamir E.

Amyloid. 2012 Dec;19(4):201-3. doi: 10.3109/13506129.2012.724035.

PMID:
22973891
2.

Transthyretin Ala36Pro mutation in a Chinese pedigree of familial transthyretin amyloidosis with elevated vitreous and serum vascular endothelial growth factor.

Zou X, Dong F, Zhang S, Tian R, Sui R.

Exp Eye Res. 2013 May;110:44-9. doi: 10.1016/j.exer.2013.02.005.

PMID:
23438977
3.

Ophthalmic manifestations in a Chinese family with familial amyloid polyneuropathy due to a TTR Gly83Arg mutation.

Liu T, Zhang B, Jin X, Wang W, Lee J, Li J, Yuan H, Cheng X.

Eye (Lond). 2014 Jan;28(1):26-33. doi: 10.1038/eye.2013.217.

4.

Oculoleptomeningeal amyloidosis in a patient with a TTR Val30Gly mutation in the transthyretin gene.

Roe RH, Fisher Y, Eagle RC Jr, Fine HF, Cunningham ET Jr.

Ophthalmology. 2007 Nov;114(11):e33-7.

PMID:
17980738
5.

A case of familial amyloid polyneuropathy due to Phe33Val TTR with vitreous involvement as the initial manifestation.

Kono S, Manabe Y, Tanaka T, Fujii D, Sakai Y, Narai H, Omori N, Ueda M, Ando Y, Abe K.

Intern Med. 2010;49(12):1213-6. Review.

6.

An unusual transthyretin gene missense mutation (TTR Phe33Val) linked to familial amyloidotic polyneuropathy.

Frigerio R, Fabrizi GM, Ferrarini M, Cavallaro T, Brighina L, Santoro P, Agostoni E, Cavaletti G, Rizzuto N, Ferrarese C.

Amyloid. 2004 Jun;11(2):121-4.

PMID:
15478468
7.

Upper limb neuropathy such as carpal tunnel syndrome as an initial manifestation of ATTR Val30Met familial amyloid polyneuropathy.

Tojo K, Tsuchiya-Suzuki A, Sekijima Y, Morita H, Sumita N, Ikeda S.

Amyloid. 2010 Mar;17(1):32-5. doi: 10.3109/13506121003619369.

PMID:
20132088
8.

Secondary glaucoma in patients with familial amyloidotic polyneuropathy.

Kimura A, Ando E, Fukushima M, Koga T, Hirata A, Arimura K, Ando Y, Negi A, Tanihara H.

Arch Ophthalmol. 2003 Mar;121(3):351-6.

PMID:
12617705
9.

Clinical and genetic findings in eight Israeli patients with transthyretin-associated familial amyloid polyneuropathy.

Leibou L, Frand J, Sadeh M, Lossos A, Kremer E, Livneh A, Yarnitsky D, Herman O, Dabby R.

Isr Med Assoc J. 2012 Nov;14(11):662-5.

10.

Phenotypic heterogeneity in a family with FAP due to a TTR Leu58Arg mutation: a clinicopathologic study.

Motozaki Y, Sugiyama Y, Ishida C, Komai K, Matsubara S, Yamada M.

J Neurol Sci. 2007 Sep 15;260(1-2):236-9.

PMID:
17466336
11.

New transthyretin variants SER 91 and SER 116 associated with familial amyloidotic polyneuropathy. Mutations in brief no. 151. Online.

Misrahi AM, Plante V, Lalu T, Serre L, Adams D, Lacroix DC, Saïd G.

Hum Mutat. 1998;12(1):71.

PMID:
10627135
12.

Multimodal retinal imaging in a Chinese kindred with familial amyloid polyneuropathy secondary to transthyretin Ile107Met mutation.

Lv W, Chen J, Chen W, Hou P, Pang CP, Chen H.

Eye (Lond). 2014 Apr;28(4):452-8. doi: 10.1038/eye.2014.10.

13.

Clinical variant of familial amyloid polyneuropathy.

Quan D, Cohen JA.

Muscle Nerve. 2002 Sep;26(3):417-20.

PMID:
12210373
14.

Variable presentations of TTR-related familial amyloid polyneuropathy in seventeen patients.

Cappellari M, Cavallaro T, Ferrarini M, Cabrini I, Taioli F, Ferrari S, Merlini G, Obici L, Briani C, Fabrizi GM.

J Peripher Nerv Syst. 2011 Jun;16(2):119-29. doi: 10.1111/j.1529-8027.2011.00331.x.

PMID:
21692911
15.

Transthyretin mutation (TTRGly47Ala) associated with familial amyloid polyneuropathy in a French family.

Magy N, Valleix S, Grateau G, Algros MP, Guillemain R, Kantelip B, Delpech M, Dupond JL.

Amyloid. 2002 Dec;9(4):272-5.

PMID:
12557758
16.

A new transthyretin variant (Glu61Gly) associated with cardiomyopathy.

Rosenzweig M, Skinner M, Prokaeva T, Théberge R, Costello C, Drachman BM, Connors LH.

Amyloid. 2007 Mar;14(1):65-71.

PMID:
17453626
17.

Carpal tunnel syndrome as an initial manifestation in a case of transthyretin-related familial amyloid polyneuropathy with a novel A120T mutation.

Koyama S, Kawanami T, Kurokawa K, Tanji H, Iseki C, Arawaka S, Wada M, Kato T.

Clin Neurol Neurosurg. 2012 Jul;114(6):707-9. doi: 10.1016/j.clineuro.2011.11.030. No abstract available.

PMID:
22209138
18.
19.

Transthyretin Val 107 in a Japanese patient with familial amyloid polyneuropathy.

Nanri K, Utsumi H, Yamada M, Takata Y, Matsumura A, Kougo K, Sekine S, Ogawa D, Toyoda M.

J Neurol Sci. 2002 Jun 15;198(1-2):93-6.

PMID:
12039669
20.

Vitreous opacities in a case of familial amyloidotic polyneuropathy associated with a transthyretin Lys 54.

Imasawa M, Toda Y, Sakurada Y, Imai M, Iijima H.

Acta Ophthalmol Scand. 2004 Oct;82(5):635-7. No abstract available.

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