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Microsatellite interruptions stabilize primate genomes and exist as population-specific single nucleotide polymorphisms within individual human genomesExpanded CCUG repeat RNA expression in Drosophila heart and muscle trigger Myotonic Dystrophy type 1-like phenotypes and activate autophagocytosis genes.Abnormal splicing of NEDD4 in myotonic dystrophy type 2: possible link to statin adverse reactions.If you build a rare disease registry, will they enroll and will they use it? Methods and data from the National Registry of Myotonic Dystrophy (DM) and Facioscapulohumeral Muscular Dystrophy (FSHD).The unstable CCTG repeat responsible for myotonic dystrophy type 2 originates from an AluSx element insertion into an early primate genome.Mutant (CCTG)n expansion causes abnormal expression of zinc finger protein 9 (ZNF9) in myotonic dystrophy type 2.Population frequency of myotonic dystrophy: higher than expected frequency of myotonic dystrophy type 2 (DM2) mutation in Finland.Overexpression of CUGBP1 in skeletal muscle from adult classic myotonic dystrophy type 1 but not from myotonic dystrophy type 2.Best practice guidelines and recommendations on the molecular diagnosis of myotonic dystrophy types 1 and 2.A Z-DNA sequence reduces slipped-strand structure formation in the myotonic dystrophy type 2 (CCTG) x (CAGG) repeatClinical aspects, molecular pathomechanisms and management of myotonic dystrophies.(CCUG)n RNA toxicity in a Drosophila model of myotonic dystrophy type 2 (DM2) activates apoptosis.Myotonic Dystrophy Type 2: An Update on Clinical Aspects, Genetic and Pathomolecular Mechanism.Myotonic dystrophy type 2 and modifier genes: an update on clinical and pathomolecular aspects.Biomolecular diagnosis of myotonic dystrophy type 2: a challenging approach.Distribution and Structure of DM2 Repeat Tract Alleles in the German Population.
P2860
Q28540820-29986E29-029B-4320-AC26-F65FC93E1F70Q30854929-3CCFE6A4-E37D-406B-A7E5-A468E44C39EEQ33978080-05375768-DBEA-40E9-A62D-8FEF2FF72CD2Q34095613-7293BBF4-34EE-4745-9D5C-9AB7D7CB5F10Q34313848-DD0C58D7-C930-4A7B-8BE9-F52F7347C91DQ34358301-4476B21D-2C03-4B97-A3A8-BA6889BCCF23Q34627289-AF005DD8-C7B6-4FD0-A40D-10621A370B1AQ35078193-9998B324-2946-4754-A9D7-38158BD77875Q36403895-038AC1FD-A135-4646-B6C7-CCCDB704EB1AQ37117810-5E99052C-F359-4FEC-A2EA-E4EB031D2099Q38209927-41E614A7-D0F4-4A37-ACA5-ED9EBF75953BQ38721747-9F941F62-C1C0-4F6B-84FB-010D520058F7Q39012035-9C4983F8-3B7F-489D-BB30-A6727E6C818DQ39081415-F5CCAE02-2391-453F-96B1-6133E8D4A21EQ39333700-387C6469-C4B8-4DA3-AA60-5342DA0F9996Q55402571-75F29698-9A62-48F0-ABBA-4750253A8DD6
P2860
description
2008 nî lūn-bûn
@nan
2008年の論文
@ja
2008年学术文章
@wuu
2008年学术文章
@zh-cn
2008年学术文章
@zh-hans
2008年学术文章
@zh-my
2008年学术文章
@zh-sg
2008年學術文章
@yue
2008年學術文章
@zh
2008年學術文章
@zh-hant
name
Premutation allele pool in myotonic dystrophy type 2.
@en
Premutation allele pool in myotonic dystrophy type 2.
@nl
type
label
Premutation allele pool in myotonic dystrophy type 2.
@en
Premutation allele pool in myotonic dystrophy type 2.
@nl
prefLabel
Premutation allele pool in myotonic dystrophy type 2.
@en
Premutation allele pool in myotonic dystrophy type 2.
@nl
P2093
P2860
P1433
P1476
Premutation allele pool in myotonic dystrophy type 2
@en
P2093
L L Bachinski
L S Ramagli
M J Siciliano
T Czernuszewicz
T Suominen
P2860
P304
P356
10.1212/01.WNL.0000333665.01888.33
P407
P577
2008-11-19T00:00:00Z