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Items: 1 to 20 of 194

1.

Molecular heterogeneity of late-onset forms of globoid-cell leukodystrophy.

De Gasperi R, Gama Sosa MA, Sartorato EL, Battistini S, MacFarlane H, Gusella JF, Krivit W, Kolodny EH.

Am J Hum Genet. 1996 Dec;59(6):1233-42. Erratum in: Am J Hum Genet 1997 May;60(5):1264.

2.

Late-onset Krabbe disease is predominant in Japan and its mutant precursor protein undergoes more effective processing than the infantile-onset form.

Hossain MA, Otomo T, Saito S, Ohno K, Sakuraba H, Hamada Y, Ozono K, Sakai N.

Gene. 2014 Jan 25;534(2):144-54. doi: 10.1016/j.gene.2013.11.003.

PMID:
24252386
3.

Molecular basis of late-life globoid cell leukodystrophy.

De Gasperi R, Gama Sosa MA, Sartorato E, Battistini S, Raghavan S, Kolodny EH.

Hum Mutat. 1999;14(3):256-62.

PMID:
10477434
4.
5.

Altered Trafficking and Processing of GALC Mutants Correlates with Globoid Cell Leukodystrophy Severity.

Shin D, Feltri ML, Wrabetz L.

J Neurosci. 2016 Feb 10;36(6):1858-70. doi: 10.1523/JNEUROSCI.3095-15.2016.

6.

Pompe disease in a Brazilian series: clinical and molecular analyses with identification of nine new mutations.

Oba-Shinjo SM, da Silva R, Andrade FG, Palmer RE, Pomponio RJ, Ciociola KM, S Carvalho M, Gutierrez PS, Porta G, Marrone CD, Munoz V, Grzesiuk AK, Llerena JC Jr, Berditchevsky CR, Sobreira C, Horovitz D, Hatem TP, Frota ER, Pecchini R, Kouyoumdjian JA, Werneck L, Amado VM, Camelo JS Jr, Mattaliano RJ, Marie SK.

J Neurol. 2009 Nov;256(11):1881-90. doi: 10.1007/s00415-009-5219-y.

PMID:
19588081
7.

Four novel GALC gene mutations in two Chinese patients with Krabbe disease.

Yang Y, Ren X, Xu Q, Wang C, Liu H, He X.

Gene. 2013 May 1;519(2):381-4. doi: 10.1016/j.gene.2013.02.010.

PMID:
23462331
8.

Globoid cell leukodystrophy (Krabbe disease): normal umbilical cord blood galactocerebrosidase activity and polymorphic mutations.

Raghavan S, Zeng B, Torres PA, Pastores GM, Kolodny EH, Kurtzberg J, Krivit W.

J Inherit Metab Dis. 2005;28(6):1005-9.

PMID:
16435193
9.

NPC1 gene mutations in Japanese patients with Niemann-Pick disease type C.

Yamamoto T, Nanba E, Ninomiya H, Higaki K, Taniguchi M, Zhang H, Akaboshi S, Watanabe Y, Takeshima T, Inui K, Okada S, Tanaka A, Sakuragawa N, Millat G, Vanier MT, Morris JA, Pentchev PG, Ohno K.

Hum Genet. 1999 Jul-Aug;105(1-2):10-6.

PMID:
10480349
10.
11.

Krabbe leukodystrophy in a selected population with high rate of late onset forms: longer survival linked to c.121G>A (p.Gly41Ser) mutation.

Fiumara A, Barone R, Arena A, Filocamo M, Lissens W, Pavone L, Sorge G.

Clin Genet. 2011 Nov;80(5):452-8. doi: 10.1111/j.1399-0004.2010.01572.x.

PMID:
21070211
12.

Neuronal ceroid lipofuscinoses: research update.

Wisniewski KE, Kida E, Connell F, Zhong N.

Neurol Sci. 2000;21(3 Suppl):S49-56. Review.

PMID:
11073228
14.

Late-onset globoid cell leucodystrophy (Krabbe's disease). Clinical and genetic delineation of two forms and their relation to the early-infantile form.

Loonen MC, Van Diggelen OP, Janse HC, Kleijer WJ, Arts WF.

Neuropediatrics. 1985 Aug;16(3):137-42.

PMID:
4047347
15.
16.

A single mutation in the GALC gene is responsible for the majority of late onset Krabbe disease patients in the Catania (Sicily, Italy) region.

Lissens W, Arena A, Seneca S, Rafi M, Sorge G, Liebaers I, Wenger D, Fiumara A.

Hum Mutat. 2007 Jul;28(7):742.

PMID:
17579360
17.

Identification of 16 novel mutations in the argininosuccinate synthetase gene and genotype-phenotype correlation in 38 classical citrullinemia patients.

Gao HZ, Kobayashi K, Tabata A, Tsuge H, Iijima M, Yasuda T, Kalkanoglu HS, Dursun A, Tokatli A, Coskun T, Trefz FK, Skladal D, Mandel H, Seidel J, Kodama S, Shirane S, Ichida T, Makino S, Yoshino M, Kang JH, Mizuguchi M, Barshop BA, Fuchinoue S, Seneca S, Zeesman S, Knerr I, Rodés M, Wasant P, Yoshida I, De Meirleir L, Abdul Jalil M, Begum L, Horiuchi M, Katunuma N, Nakagawa S, Saheki T.

Hum Mutat. 2003 Jul;22(1):24-34.

PMID:
12815590
19.

Identification of genetic mutations in Japanese patients with fructose-1,6-bisphosphatase deficiency.

Kikawa Y, Inuzuka M, Jin BY, Kaji S, Koga J, Yamamoto Y, Fujisawa K, Hata I, Nakai A, Shigematsu Y, Mizunuma H, Taketo A, Mayumi M, Sudo M.

Am J Hum Genet. 1997 Oct;61(4):852-61.

20.

Novel deletions in MYH7 and MYBPC3 identified in Indian families with familial hypertrophic cardiomyopathy.

Waldmüller S, Sakthivel S, Saadi AV, Selignow C, Rakesh PG, Golubenko M, Joseph PK, Padmakumar R, Richard P, Schwartz K, Tharakan JM, Rajamanickam C, Vosberg HP.

J Mol Cell Cardiol. 2003 Jun;35(6):623-36.

PMID:
12788380
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