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Tibial Muscular Dystrophy
Known as:
Distal Myopathy, Udd
, Myopathy, Udd Distal
, Finnish Markesbery Muscular Dystrophy
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National Institutes of Health
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Related topics
Related topics
2 relations
Broader (1)
Distal Muscular Dystrophies
TIBIAL MUSCULAR DYSTROPHY, TARDIVE
Papers overview
Semantic Scholar uses AI to extract papers important to this topic.
2014
2014
The titin A-band rod domain is dispensable for initial thick filament assembly in zebrafish.
J. Myhre
,
Jordan A Hills
,
K. Prill
,
Serene L. Wohlgemuth
,
D. Pilgrim
Developmental Biology
2014
Corpus ID: 9802128
Highly Cited
2014
Highly Cited
2014
Atypical phenotypes in titinopathies explained by second titin mutations
A. Evilä
,
A. Vihola
,
+17 authors
B. Udd
Annals of Neurology
2014
Corpus ID: 205345040
Several patients with previously reported titin gene (TTN) mutations causing tibial muscular dystrophy (TMD) have more complex…
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2014
2014
Gene Expression Profiling in Tibial Muscular Dystrophy Reveals Unfolded Protein Response and Altered Autophagy
M. Screen
,
O. Raheem
,
+4 authors
B. Udd
PLoS ONE
2014
Corpus ID: 6977527
Tibial muscular dystrophy (TMD) is a late onset, autosomal dominant distal myopathy that results from mutations in the two last…
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2010
2010
The first Italian family with tibial muscular dystrophy caused by a novel titin mutation
M. Pollazzon
,
T. Suominen
,
+9 authors
B. Udd
Journal of Neurology
2010
Corpus ID: 24559420
Tibial muscular dystrophy (TMD) or Udd myopathy is an autosomal dominant distal myopathy with late onset, at first described in…
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Highly Cited
2005
Highly Cited
2005
Mdm muscular dystrophy: interactions with calpain 3 and a novel functional role for titin's N2A domain.
Kimberly A Huebsch
,
E. Kudryashova
,
+4 authors
G. Cox
Human Molecular Genetics
2005
Corpus ID: 3116693
Human tibial muscular dystrophy and limb-girdle muscular dystrophy 2J are caused by mutations in the giant sarcomeric protein…
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Highly Cited
1998
Highly Cited
1998
Assignment of the tibial muscular dystrophy locus to chromosome 2q31.
H. Haravuori
,
P. Mäkelä-Bengs
,
+4 authors
L. Peltonen
American Journal of Human Genetics
1998
Corpus ID: 37949084
Tibial muscular dystrophy (TMD) is a rare autosomal dominant distal myopathy with late adult onset. The phenotype is relatively…
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1998
1998
The first European family with tibial muscular dystrophy outside the Finnish population
J. Seze
,
B. Udd
,
+8 authors
P. Vermersch
Neurology
1998
Corpus ID: 20366033
We report the first European tibial muscular dystrophy (TMD) family outside the Finnish population. Clinical examination showed…
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Highly Cited
1998
Highly Cited
1998
Tibial muscular dystrophy – from clinical description to linkage on chromosome 2q31
B. Udd
,
H. Haravuori
,
+5 authors
H. Somer
Neuromuscular Disorders
1998
Corpus ID: 42256207
Review
1997
Review
1997
Overview of distal myopathies: from the clinical to the molecular
R. Griggs
Neuromuscular Disorders
1997
Corpus ID: 45485329
Review
1993
Review
1993
Tibial muscular dystrophy. Late adult-onset distal myopathy in 66 Finnish patients.
B. Udd
,
J. Partanen
,
+12 authors
H. Somer
Archives of Neurology
1993
Corpus ID: 6078670
OBJECTIVE To clarify the classification of two previously reported groups of patients with anterior tibial distal dystrophy, to…
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