Vesa J - Search Results

1

Novel splice site CACNA1A mutation causing episodic ataxia type 2.

Kaunisto MA, Harno H, Kallela M, Somer H, Sallinen R, Hämäläinen E, Miettinen PJ, Vesa J, Orpana A, Palotie A, Färkkilä M, Wessman M. Kaunisto MA, et al. Among authors: vesa j. Neurogenetics. 2004 Feb;5(1):69-73. doi: 10.1007/s10048-003-0161-0. Epub 2003 Oct 7. Neurogenetics. 2004. PMID: 14530926

2

Identification of YAC clones for human chromosome 1p32 and physical mapping of the infantile neuronal ceroid lipofuscinosis (INCL) locus.

Hellsten E, Vesa J, Heiskanen M, Mäkelä TP, Järvelä I, Cowell JK, Mead S, Alitalo K, Palotie A, Peltonen L. Hellsten E, et al. Among authors: vesa j. Genomics. 1995 Jan 20;25(2):404-12. doi: 10.1016/0888-7543(95)80040-s. Genomics. 1995. PMID: 7789974

3

The rearranged L-myc fusion gene (RLF) encodes a Zn-15 related zinc finger protein.

Mäkelä TP, Hellsten E, Vesa J, Hirvonen H, Palotie A, Peltonen L, Alitalo K. Mäkelä TP, et al. Among authors: vesa j. Oncogene. 1995 Dec 21;11(12):2699-704. Oncogene. 1995. PMID: 8545128

4

Refined assignment of the infantile neuronal ceroid-lipofuscinosis (INCL) locus at 1p32 and the current status of prenatal and carrier diagnostics.

Hellsten E, Vesa J, Järvelä I, Mäkelä TP, Santavuori P, Peltonen L. Hellsten E, et al. Among authors: vesa j. J Inherit Metab Dis. 1993;16(2):335-8. doi: 10.1007/BF00710277. J Inherit Metab Dis. 1993. PMID: 8411993 Review. No abstract available.

5

Molecular genetics of neuronal ceroid lipofuscinoses.

Järvelä I, Vesa J, Santavuori P, Hellsten E, Peltonen L. Järvelä I, et al. Among authors: vesa j. Pediatr Res. 1992 Dec;32(6):645-8. doi: 10.1203/00006450-199212000-00003. Pediatr Res. 1992. PMID: 1287553 Review.

6

Refined assignment of the infantile neuronal ceroid lipofuscinosis (INCL, CLN1) locus at 1p32: incorporation of linkage disequilibrium in multipoint analysis.

Hellsten E, Vesa J, Speer MC, Mäkelä TP, Järvelä I, Alitalo K, Ott J, Peltonen L. Hellsten E, et al. Among authors: vesa j. Genomics. 1993 Jun;16(3):720-5. doi: 10.1006/geno.1993.1253. Genomics. 1993. PMID: 8325646

7

From locus to cellular disturbances: positional cloning of the infantile neuronal ceroid lipofuscinosis gene.

Hellsten E, Vesa J, Jalanko A, Peltonen L. Hellsten E, et al. Among authors: vesa j. Neuropediatrics. 1997 Feb;28(1):9-11. doi: 10.1055/s-2007-973655. Neuropediatrics. 1997. PMID: 9151310

8

Mutations in the palmitoyl protein thioesterase gene causing infantile neuronal ceroid lipofuscinosis.

Vesa J, Hellsten E, Verkruyse LA, Camp LA, Rapola J, Santavuori P, Hofmann SL, Peltonen L. Vesa J, et al. Nature. 1995 Aug 17;376(6541):584-7. doi: 10.1038/376584a0. Nature. 1995. PMID: 7637805

9

Assignment of sterol carrier protein X/sterol carrier protein 2 to 1p32 and its exclusion as the causative gene for infantile neuronal ceroid lipofuscinosis.

Vesa J, Hellsten E, Barnoski BL, Emanuel BS, Billheimer JT, Mead S, Cowell JK, Strauss JF 3rd, Peltonen L. Vesa J, et al. Hum Mol Genet. 1994 Feb;3(2):341-6. doi: 10.1093/hmg/3.2.341. Hum Mol Genet. 1994. PMID: 8004106

10

An Alu variable polyA repeat polymorphism upstream of L-myc at 1p32.

Mäkelä TP, Hellsten E, Vesa J, Alitalo K, Peltonen L. Mäkelä TP, et al. Among authors: vesa j. Hum Mol Genet. 1992 Jun;1(3):217. doi: 10.1093/hmg/1.3.217-a. Hum Mol Genet. 1992. PMID: 1303189 No abstract available.

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