Aula N - Search Results

1

The spectrum of SLC17A5-gene mutations resulting in free sialic acid-storage diseases indicates some genotype-phenotype correlation.

Aula N, Salomäki P, Timonen R, Verheijen F, Mancini G, Månsson JE, Aula P, Peltonen L. Aula N, et al. Am J Hum Genet. 2000 Oct;67(4):832-40. doi: 10.1086/303077. Epub 2000 Aug 17. Am J Hum Genet. 2000. PMID: 10947946 Free PMC article.

2

Unraveling the molecular pathogenesis of free sialic acid storage disorders: altered targeting of mutant sialin.

Aula N, Jalanko A, Aula P, Peltonen L. Aula N, et al. Mol Genet Metab. 2002 Sep-Oct;77(1-2):99-107. doi: 10.1016/s1096-7192(02)00124-5. Mol Genet Metab. 2002. PMID: 12359136

3

Prenatal diagnosis of free sialic acid storage disorders (SASD).

Aula N, Aula P. Aula N, et al. Prenat Diagn. 2006 Aug;26(8):655-8. doi: 10.1002/pd.1431. Prenat Diagn. 2006. PMID: 16715535

4

A new gene, encoding an anion transporter, is mutated in sialic acid storage diseases.

Verheijen FW, Verbeek E, Aula N, Beerens CE, Havelaar AC, Joosse M, Peltonen L, Aula P, Galjaard H, van der Spek PJ, Mancini GM. Verheijen FW, et al. Among authors: aula n. Nat Genet. 1999 Dec;23(4):462-5. doi: 10.1038/70585. Nat Genet. 1999. PMID: 10581036

5

Prenatal detection of free sialic acid storage disease: genetic and biochemical studies in nine families.

Salomäki P, Aula N, Juvonen V, Renlund M, Aula P. Salomäki P, et al. Among authors: aula n. Prenat Diagn. 2001 May;21(5):354-8. doi: 10.1002/pd.68. Prenat Diagn. 2001. PMID: 11360275

6

Sialin expression in the CNS implicates extralysosomal function in neurons.

Aula N, Kopra O, Jalanko A, Peltonen L. Aula N, et al. Neurobiol Dis. 2004 Mar;15(2):251-61. doi: 10.1016/j.nbd.2003.11.017. Neurobiol Dis. 2004. PMID: 15006695

7

Free sialic acid storage (Salla) disease in Sweden.

Erikson A, Aula N, Aula P, Månsson JE. Erikson A, et al. Among authors: aula n. Acta Paediatr. 2002;91(12):1324-7. doi: 10.1080/08035250216110. Acta Paediatr. 2002. PMID: 12578289

8

The novel neuronal ceroid lipofuscinosis gene MFSD8 encodes a putative lysosomal transporter.

Siintola E, Topcu M, Aula N, Lohi H, Minassian BA, Paterson AD, Liu XQ, Wilson C, Lahtinen U, Anttonen AK, Lehesjoki AE. Siintola E, et al. Among authors: aula n. Am J Hum Genet. 2007 Jul;81(1):136-46. doi: 10.1086/518902. Epub 2007 May 14. Am J Hum Genet. 2007. PMID: 17564970 Free PMC article.

9

Cystatin B: mutation detection, alternative splicing and expression in progressive myclonus epilepsy of Unverricht-Lundborg type (EPM1) patients.

Joensuu T, Kuronen M, Alakurtti K, Tegelberg S, Hakala P, Aalto A, Huopaniemi L, Aula N, Michellucci R, Eriksson K, Lehesjoki AE. Joensuu T, et al. Among authors: aula n. Eur J Hum Genet. 2007 Feb;15(2):185-93. doi: 10.1038/sj.ejhg.5201723. Epub 2006 Sep 27. Eur J Hum Genet. 2007. PMID: 17003839

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