Kansanterveyslaitos KTL

A distinct phenotype of distal myopathy in a large Finnish family.

Mahjneh I; Haravuori H; Paetau A; Anderson LVB; Saarinen A; Udd B; Somer H
Neurology : 1 (2003)

Aikuisiässä alkavan ataksian uusia perinnöllisiä syitä

Rantamäki M; Wartiovaara A; Luoma P; Hakonen A; Majamaa K; Soini H; Finnilä S; Hietaharju A; Paetau A; Kääriäinen H; Udd B
Duodecim (2007)

Assigment of the tibial muscular dystrophy (TMD) locus to chromosome 2q31

Haravuori H; Mäkelä-Bengs P; Udd B; Partanen J; Pulkkinen L; Somer H; Peltonen L
Am J Hum Genet (1998)

Linkage analyses in tibial muscular dystrophy

Nokelainen P; Udd B; Somer H; Peltonen L
Hum Hered (1996)

Linkage analyses in tibial muscular dystrophy

Nokelainen P; Udd B; Somer H; Peltonen L
Hum Hered (1996)

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
NEUROMUSCUL DISORD : 3 (2004)

Mitochondrial DNA polymerase W748S mutation: a common cause of autosomal recessive ataxia with ancient European origin

Hakonen AH; Heiskanen S; Juvonen V; Lappalainen I; Luoma PT; Rantamaki M; Goethem GV; Lofgren A; Hackman P; Paetau A; Kaakkola S; Majamaa K; Varilo T; Udd B; Kääriäinen H; Bindoff LA; Suomalainen A
Am J Hum Genet : 3 (2005)

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

Haravuori H; Vihola A; Staub V; Auranen M; Richard S; Marchand T; Voit T; Labeit S; Somer H; Peltonen L; Beckmann JS; Udd B
Neurology (2001)

The effect of number of loci on geographical structuring and forensic applicability of Y-STR data in Finland

Palo JU; Pirttimaa M; Bengs A; Johnsson V; Ulmanen I; Lukka M; Udd B; Sajantila A
Int J Legal Med (2008)

The first European family with tibial muscular dystrophy outside the Finnish population

de Seze J; Udd B; Haravuori H; Sablonniére B; Maurage C A; Hurtevent J F; Boutry N; Stojkovic T; Schraen S; Petit H; Vermersch P
BAILLIERES CLIN NEUROL : 51 (1998)

The gene disrupted in Marinesco-Sjogren syndrome encodes SIL1, an HSPA5 cochaperone

Anttonen A K; Mahjned I; Hämäläinen R H; Lagier-Tourenne C; Kopra O; Waris L; Anttonen M; Joensuu T; Kalimo H; Paetau A; Tranebjaerg L; Chaigne D; Koenig M; Eeg-Olofsson O; Udd B; Somer M; Somer H; Lehesjoki A E
Nat Genet : 12 (2005)

Tibial muscular dystrophy is a titinopathy caused my mutations in TTN, the gene encoding the giant skeletal-muscle protein titin

Hackman P; Vihola A; Haravuori H; Marchand S; Sarparanta J; de Seze J; Labeit S; Witt C; Peltonen L; Richard I; Udd B
Am J Hum Genet : 71 (2002)

"Udd B" - Selaus tekijän mukaan Kansanterveyslaitos KTL

A distinct phenotype of distal myopathy in a large Finnish family. ﻿

Aikuisiässä alkavan ataksian uusia perinnöllisiä syitä ﻿

Assigment of the tibial muscular dystrophy (TMD) locus to chromosome 2q31 ﻿

Linkage analyses in tibial muscular dystrophy ﻿

Linkage analyses in tibial muscular dystrophy ﻿

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

Mitochondrial DNA polymerase W748S mutation: a common cause of autosomal recessive ataxia with ancient European origin ﻿

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

The effect of number of loci on geographical structuring and forensic applicability of Y-STR data in Finland ﻿

The first European family with tibial muscular dystrophy outside the Finnish population ﻿

The gene disrupted in Marinesco-Sjogren syndrome encodes SIL1, an HSPA5 cochaperone ﻿

Tibial muscular dystrophy is a titinopathy caused my mutations in TTN, the gene encoding the giant skeletal-muscle protein titin ﻿

A distinct phenotype of distal myopathy in a large Finnish family.

Aikuisiässä alkavan ataksian uusia perinnöllisiä syitä

Assigment of the tibial muscular dystrophy (TMD) locus to chromosome 2q31

Linkage analyses in tibial muscular dystrophy

Linkage analyses in tibial muscular dystrophy

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

Mitochondrial DNA polymerase W748S mutation: a common cause of autosomal recessive ataxia with ancient European origin

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

The effect of number of loci on geographical structuring and forensic applicability of Y-STR data in Finland

The first European family with tibial muscular dystrophy outside the Finnish population

The gene disrupted in Marinesco-Sjogren syndrome encodes SIL1, an HSPA5 cochaperone

Tibial muscular dystrophy is a titinopathy caused my mutations in TTN, the gene encoding the giant skeletal-muscle protein titin