PubRank

S M van der Maarel

Author PubWeight™ 36.69‹?›

Top papers

Rank Title Journal Year PubWeight™‹?›
1 Nucleotide sequence of the partially deleted D4Z4 locus in a patient with FSHD identifies a putative gene within each 3.3 kb element. Gene 1999 3.00
2 Association between X-linked mixed deafness and mutations in the POU domain gene POU3F4. Science 1995 2.38
3 Clinical features of facioscapulohumeral muscular dystrophy 2. Neurology 2010 2.01
4 Ventilatory support in facioscapulohumeral muscular dystrophy. Neurology 2004 1.73
5 Mutations of MLC1 (KIAA0027), encoding a putative membrane protein, cause megalencephalic leukoencephalopathy with subcortical cysts. Am J Hum Genet 2001 1.56
6 Interchromosomal repeat array interactions between chromosomes 4 and 10: a model for subtelomeric plasticity. Hum Mol Genet 2000 1.56
7 FRG2, an FSHD candidate gene, is transcriptionally upregulated in differentiating primary myoblast cultures of FSHD patients. J Med Genet 2004 1.50
8 Complete allele information in the diagnosis of facioscapulohumeral muscular dystrophy by triple DNA analysis. Ann Neurol 2001 1.42
9 Hypomethylation is restricted to the D4Z4 repeat array in phenotypic FSHD. Neurology 2007 1.41
10 Inter- and intrachromosomal sub-telomeric rearrangements on 4q35: implications for facioscapulohumeral muscular dystrophy (FSHD) aetiology and diagnosis. Hum Mol Genet 1998 1.34
11 Genotype-phenotype study in an FSHD family with a proximal deletion encompassing p13E-11 and D4Z4. Neurology 2007 1.22
12 D4F104S1 deletion in facioscapulohumeral muscular dystrophy: phenotype, size, and detection. Neurology 2003 1.20
13 Clinical spectrum of immunodeficiency, centromeric instability and facial dysmorphism (ICF syndrome). J Med Genet 2007 1.20
14 Possible phenotypic dosage effect in patients compound heterozygous for FSHD-sized 4q35 alleles. Neurology 2003 1.18
15 A duplication/paracentric inversion associated with familial X-linked deafness (DFN3) suggests the presence of a regulatory element more than 400 kb upstream of the POU3F4 gene. Hum Mol Genet 1995 1.10
16 Strength training and albuterol in facioscapulohumeral muscular dystrophy. Neurology 2004 1.04
17 X-linked mixed deafness (DFN3): cloning and characterization of the critical region allows the identification of novel microdeletions. Hum Mol Genet 1994 1.02
18 FRG1P is localised in the nucleolus, Cajal bodies, and speckles. J Med Genet 2004 1.00
19 VH genes in tandem array comprise a repeated germline motif. J Immunol 1992 0.99
20 Further mutations in Brain 4 (POU3F4) clarify the phenotype in the X-linked deafness, DFN3. Hum Mol Genet 1995 0.95
21 Homozygosity for autosomal dominant facioscapulohumeral muscular dystrophy (FSHD) does not result in a more severe phenotype. J Med Genet 2004 0.90
22 ICF syndrome: high variability of the chromosomal phenotype and association with classical Hodgkin lymphoma. Am J Med Genet A 2007 0.89
23 Rapid and accurate diagnosis of facioscapulohumeral muscular dystrophy. Neuromuscul Disord 2006 0.88
24 Llama-derived phage display antibodies in the dissection of the human disease oculopharyngeal muscular dystrophy. J Immunol Methods 2003 0.87
25 Autosomal recessive oculopharyngodistal myopathy: a distinct phenotypical, histological, and genetic entity. J Neurol Neurosurg Psychiatry 2004 0.84
26 Pathogenic immune mechanisms at the neuromuscular synapse: the role of specific antibody-binding epitopes in myasthenia gravis. J Intern Med 2013 0.83
27 Transmigration of beta amyloid specific heavy chain antibody fragments across the in vitro blood-brain barrier. Neuroscience 2011 0.82
28 Mild muscular features in tenascin-X knockout mice, a model of Ehlers-danlos syndrome. Connect Tissue Res 2011 0.82
29 [Facioscapulohumeral muscular dystrophy]. Ned Tijdschr Tandheelkd 2010 0.81
30 No effect of folic acid and methionine supplementation on D4Z4 methylation in patients with facioscapulohumeral muscular dystrophy. Neuromuscul Disord 2006 0.79
31 Radiation hybrids for the proximal long arm of the X chromosome and their use in the derivation of an ordered set of cosmid markers from a defined subregion in proximal Xq13.1. Somat Cell Mol Genet 1994 0.75