Somer H - 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: somer h. Neurogenetics. 2004 Feb;5(1):69-73. doi: 10.1007/s10048-003-0161-0. Epub 2003 Oct 7. Neurogenetics. 2004. PMID: 14530926

2

Acetazolamide improves neurotological abnormalities in a family with episodic ataxia type 2 (EA-2).

Harno H, Hirvonen T, Kaunisto MA, Aalto H, Levo H, Isotalo E, Somer H, Kallela M, Palotie A, Wessman M, Färkkilä M. Harno H, et al. Among authors: somer h. J Neurol. 2004 Feb;251(2):232-4. doi: 10.1007/s00415-004-0299-1. J Neurol. 2004. PMID: 14991363 No abstract available.

3

Huntington disease in Finland: linkage disequilibrium of chromosome 4 RFLP haplotypes and exclusion of a tight linkage between the disease and D4S43 locus.

Ikonen E, Palo J, Ott J, Gusella J, Somer H, Karila L, Palotie A, Peltonen L. Ikonen E, et al. Among authors: somer h. Am J Hum Genet. 1990 Jan;46(1):5-11. Am J Hum Genet. 1990. PMID: 1967208 Free PMC article.

4

Osteoporosis-pseudoglioma syndrome: clinical, morphological, and biochemical studies.

Somer H, Palotie A, Somer M, Hoikka V, Peltonen L. Somer H, et al. Among authors: somer m. J Med Genet. 1988 Aug;25(8):543-9. doi: 10.1136/jmg.25.8.543. J Med Genet. 1988. PMID: 3172149 Free PMC article.

5

Linkage to two separate loci in a family with a novel distal myopathy phenotype (MPD3).

Haravuori H, Siitonen HA, Mahjneh I, Hackman P, Lahti L, Somer H, Peltonen L, Kestilä M, Udd B. Haravuori H, et al. Among authors: somer h. Neuromuscul Disord. 2004 Mar;14(3):183-7. doi: 10.1016/j.nmd.2003.12.003. Neuromuscul Disord. 2004. PMID: 15036327

6

Assignment of the tibial muscular dystrophy locus to chromosome 2q31.

Haravuori H, Mäkelä-Bengs P, Udd B, Partanen J, Pulkkinen L, Somer H, Peltonen L. Haravuori H, et al. Among authors: somer h. Am J Hum Genet. 1998 Mar;62(3):620-6. doi: 10.1086/301752. Am J Hum Genet. 1998. PMID: 9497249 Free PMC article.

7

Usefulness of chromosome 19 RFLP haplotypes in the diagnosis of myotonic dystrophy.

Nokelainen PT, Alanen-Kurki L, Somer HV, Pihko SH, Peltonen L. Nokelainen PT, et al. Among authors: somer hv. Muscle Nerve. 1991 May;14(5):451-6. doi: 10.1002/mus.880140511. Muscle Nerve. 1991. PMID: 1678492

8

Secondary calpain3 deficiency in 2q-linked muscular dystrophy: titin is the candidate gene.

Haravuori H, Vihola A, Straub V, Auranen M, Richard I, Marchand S, Voit T, Labeit S, Somer H, Peltonen L, Beckmann JS, Udd B. Haravuori H, et al. Among authors: somer h. Neurology. 2001 Apr 10;56(7):869-77. doi: 10.1212/wnl.56.7.869. Neurology. 2001. PMID: 11294923

9

Linkage analyses in tibial muscular dystrophy.

Nokelainen P, Udd B, Somer H, Peltonen L. Nokelainen P, et al. Among authors: somer h. Hum Hered. 1996 Mar-Apr;46(2):98-107. doi: 10.1159/000154334. Hum Hered. 1996. PMID: 8666419

10

Terminal deletion of chromosome 4p (4p16.3) shows a breakpoint between loci linked to Huntington disease.

Ikonen E, Salo A, Somer M, Somer H, Pääkkönen L, Peltonen L. Ikonen E, et al. Among authors: somer h, somer m. Am J Med Genet. 1992 Jul 1;43(4):753-8. doi: 10.1002/ajmg.1320430421. Am J Med Genet. 1992. PMID: 1535752

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