• Publications
  • Influence
Familial Hemiplegic Migraine and Episodic Ataxia Type-2 Are Caused by Mutations in the Ca2+ Channel Gene CACNL1A4
Genes for familial hemiplegic migraine (FHM) and episodic ataxia type-2 (EA-2) have been mapped to chromosome 19p13. We characterized a brain-specific P/Q-type Ca2+ channel alpha1-subunit gene,Expand
  • 2,088
  • 91
  • PDF
New genetic loci implicated in fasting glucose homeostasis and their impact on type 2 diabetes risk
Levels of circulating glucose are tightly regulated. To identify new loci influencing glycemic traits, we performed meta-analyses of 21 genome-wide association studies informative for fastingExpand
  • 1,888
  • 88
  • PDF
Chromosome 4q DNA rearrangements associated with facioscapulohumeral muscular dystrophy
Facioscapulohumeral muscular dystrophy (FSHD) is an autosomal dominant neuromuscular disorder which maps to chromosome 4qter, distal to the D4S139 locus. The cosmid clone 13E, isolated in a searchExpand
  • 562
  • 39
A Unifying Genetic Model for Facioscapulohumeral Muscular Dystrophy
Addition by Contraction Facioscapulohumeral muscular dystrophy (FSHD) is one of the most common hereditary neuromuscular disorders in Western populations, affecting about 1 in 20,000 people. In mostExpand
  • 513
  • 39
  • PDF
A Cacna1a Knockin Migraine Mouse Model with Increased Susceptibility to Cortical Spreading Depression
Migraine is a common, disabling, multifactorial, episodic neurovascular disorder of unknown etiology. Familial hemiplegic migraine type 1 (FHM-1) is a Mendelian subtype of migraine with aura that isExpand
  • 577
  • 32
Digenic inheritance of an SMCHD1 mutation and an FSHD-permissive D4Z4 allele causes facioscapulohumeral muscular dystrophy type 2
Facioscapulohumeral dystrophy (FSHD) is characterized by chromatin relaxation of the D4Z4 macrosatellite array on chromosome 4 and expression of the D4Z4-encoded DUX4 gene in skeletal muscle. TheExpand
  • 401
  • 27
Hypomethylation of D4Z4 in 4q-linked and non-4q-linked facioscapulohumeral muscular dystrophy
The autosomal dominant myopathy facioscapulohumeral muscular dystrophy (FSHD1, OMIM 158900) is caused by contraction of the D4Z4 repeat array on 4qter. We show that this contraction causes markedExpand
  • 323
  • 19
Specific Loss of Histone H3 Lysine 9 Trimethylation and HP1γ/Cohesin Binding at D4Z4 Repeats Is Associated with Facioscapulohumeral Dystrophy (FSHD)
Facioscapulohumeral dystrophy (FSHD) is an autosomal dominant muscular dystrophy in which no mutation of pathogenic gene(s) has been identified. Instead, the disease is, in most cases, geneticallyExpand
  • 236
  • 19
  • PDF
Genome-wide meta-analysis identifies new susceptibility loci for migraine
Migraine is the most common brain disorder, affecting approximately 14% of the adult population, but its molecular mechanisms are poorly understood. We report the results of a meta-analysis across 29Expand
  • 277
  • 18
  • PDF
Analysis of the p16 gene (CDKN2) as a candidate for the chromosome 9p melanoma susceptibility locus
A locus for familial melanoma, MLM, has been mapped within the same interval on chromosome 9p21 as the gene for a putative cell cycle regulator, p16INK4 (CDKN2) MTS1. This gene is homozygouslyExpand
  • 844
  • 17
  • PDF
...
1
2
3
4
5
...