• Publications
  • Influence
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
Treatment of single brain metastasis: Radiotherapy alone or combined with neurosurgery
Most patients treated for single or multiple brain metastases die from progression of extracranial tumor activity. This makes it uncertain whether the combination of neurosurgery and radiontherapyExpand
  • 885
  • 30
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
FSHD associated DNA rearrangements are due to deletions of integral copies of a 3.2 kb tandemly repeated unit.
Facioscapulohumeral muscular dystrophy (FSHD) is a neuromuscular disorder characterized by progressive weakness of the facial, shoulder and upper arm muscles. The disease is associated with DNAExpand
  • 447
  • 23
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
  • 20
The choice of treatment of single brain metastasis should be based on extracranial tumor activity and age.
PURPOSE To determine if in patients with single brain metastasis the addition of neurosurgery to radiotherapy leads to lengthening of survival or to better quality of life. METHODS AND MATERIALSExpand
  • 574
  • 17
Nucleotide sequence of the partially deleted D4Z4 locus in a patient with FSHD identifies a putative gene within each 3.3 kb element.
Facioscapulohumeral muscular dystrophy (FSHD) is linked to the polymorphic D4Z4 locus on chromosome 4q35. In non-affected individuals, this locus comprises 10-100 tandem copies of members of theExpand
  • 287
  • 16
Germline mutations in the PTEN/MMAC1 gene in patients with Cowden disease.
Cowden disease, also known as multiple hamartoma syndrome, is an autosomal dominant cancer syndrome with a high risk of breast and thyroid cancer. The gene involved has been localized to chromosomeExpand
  • 443
  • 14
Experienced fatigue in facioscapulohumeral dystrophy, myotonic dystrophy, and HMSN-I
Objective: To assess the prevalence of severe fatigue and its relation to functional impairment in daily life in patients with relatively common types of neuromuscular disorders. Methods: 598Expand
  • 206
  • 13
  • PDF
...
1
2
3
4
5
...