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Localization of the gene for Cowden disease to chromosome 10q22-23

Nature genetics, 1996-05, Vol.13 (1), p.114-116

1996

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Chromosome 4 localization of a second gene for autosomal dominant polycystic kidney disease

Nature genetics, 1993-12, Vol.5 (4), p.359-362

1993

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O.19 Facioscapulohumeral muscular dystrophy: Muscle running out of control

Neuromuscular disorders : NMD, 2011-10, Vol.21 (9), p.749-749

2011

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Clinical features of facioscapulohumeral muscular dystrophy 2

Neurology, 2010-10, Vol.75 (17), p.1548-1554

2010

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Transgenic mice carrying the apolipoprotein E3-Leiden gene exhibit hyperlipoproteinemia

The Journal of biological chemistry, 1993-05, Vol.268 (14), p.10540-10545

1993

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Retinal photography: A diagnostic tool for small vessel disease of the brain?

Journal of the neurological sciences, 2009, Vol.283 (1), p.273-273

2009

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G.O.2 A primary sequence motif underlying calpain 3 substrate cleavage

Neuromuscular disorders : NMD, 2009-09, Vol.19 (8), p.545-545

2009

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Location of facioscapulohumeral muscular dystrophy gene on chromosome 4

The Lancet (British edition), 1990-09, Vol.336 (8716), p.651-653

1990

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Risk of developing pancreatic cancer in families with familial atypical multiple mole melanoma associated with a specific 19 deletion of p16 (p16‐Leiden)

International journal of cancer, 2000-09, Vol.87 (6), p.809-811

2000

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The Cholesterol-Raising Factor from Coffee Beans, Cafestol, as an Agonist Ligand for the Farnesoid and Pregnane X Receptors

Molecular endocrinology (Baltimore, Md.), 2007-07, Vol.21 (7), p.1603-1616

2007

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Nucleotide sequence of the partially deleted D4Z4 locus in a patient with FSHD identifies a putative gene within each 3.3 kb element

Gene, 1999-08, Vol.236 (1), p.25-32

1999

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Childhood epilepsy, familial hemiplegic migraine, cerebellar ataxia, and a new CACNA1A mutation

Neurology, 2004-09, Vol.63 (6), p.1136-1137

2004

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Involvement of the CACNA1A gene containing region on 19p13 in migraine with and without aura

Neurology, 2001-04, Vol.56 (8), p.1028-1032

2001

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Mapping the facioscapulohumeral muscular dystrophy gene is complicated by chromosome 4q35 recombination events

Nature genetics, 1993-06, Vol.4 (2), p.165-169

1993

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Gene dosage-dependent transmitter release changes at neuromuscular synapses of Cacna1a R192Q knockin mice are non-progressive and do not lead to morphological changes or muscle weakness

Neuroscience, 2005, Vol.135 (1), p.81-95

2005

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The Mouse Low-Density Lipoprotein Receptor Gene: cDNA Sequence and Exon-Intron Structure

Biochemical and biophysical research communications, 1993-03, Vol.191 (3), p.880-886

1993

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Characterization of acetylcholine release and the compensatory contribution of non-Cav2.1 channels at motor nerve terminals of leaner Cav2.1-mutant mice

Neuroscience, 2007-02, Vol.144 (4), p.1278-1287

2007

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Effect of oral omeprazole on serum gastrin and serum pepsinogen I levels

Gastroenterology (New York, N.Y. 1943), 1984-11, Vol.87 (5), p.1030-1034

1984

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Low density lipoprotein receptor internalizes low density and very low density lipoproteins that are bound to heparan sulfate proteoglycans via lipoprotein lipase

The Journal of biological chemistry, 1993-05, Vol.268 (13), p.9369-9375

1993

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G.O.3 Contraction-dependent (FSHD1) and independent (FSHD2) epigenetic changes of D4Z4 unify FSHD

Neuromuscular disorders : NMD, 2009-09, Vol.19 (8-9), p.545-545

2009

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Diagnostic Notch3 sequence analysis in CADASIL: Three new mutations in Dutch patients

Neurology, 1999-06, Vol.52 (9), p.1913-1913

1999

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G.O.3 Contraction-dependent (FSHD1) and independent (FSHD2) epigenetic changes of D4Z4 unify FSHD

Neuromuscular disorders : NMD, 2009, Vol.19 (8), p.545-545

2009

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Characterization of acetylcholine release and the compensatory contribution of non-Ca v2.1 channels at motor nerve terminals of leaner Ca v2.1-mutant mice

Neuroscience, 2007, Vol.144 (4), p.1278-1287

2007

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Llama-derived phage display antibodies in the dissection of the human disease oculopharyngeal muscular dystrophy

Journal of immunological methods, 2003-08, Vol.279 (1), p.149-161

2003

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No effect of folic acid and methionine supplementation on D4Z4 methylation in patients with facioscapulohumeral muscular dystrophy

Neuromuscular disorders : NMD, 2006-11, Vol.16 (11), p.766-769

2006

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Localization of the gene for Cowden disease to chromosome 10q22-23

Chromosome 4 localization of a second gene for autosomal dominant polycystic kidney disease

O.19 Facioscapulohumeral muscular dystrophy: Muscle running out of control

Clinical features of facioscapulohumeral muscular dystrophy 2

Transgenic mice carrying the apolipoprotein E3-Leiden gene exhibit hyperlipoproteinemia

Retinal photography: A diagnostic tool for small vessel disease of the brain?

G.O.2 A primary sequence motif underlying calpain 3 substrate cleavage

Location of facioscapulohumeral muscular dystrophy gene on chromosome 4

Risk of developing pancreatic cancer in families with familial atypical multiple mole melanoma associated with a specific 19 deletion of p16 (p16‐Leiden)

The Cholesterol-Raising Factor from Coffee Beans, Cafestol, as an Agonist Ligand for the Farnesoid and Pregnane X Receptors

Nucleotide sequence of the partially deleted D4Z4 locus in a patient with FSHD identifies a putative gene within each 3.3 kb element

Childhood epilepsy, familial hemiplegic migraine, cerebellar ataxia, and a new CACNA1A mutation

Involvement of the CACNA1A gene containing region on 19p13 in migraine with and without aura

Mapping the facioscapulohumeral muscular dystrophy gene is complicated by chromosome 4q35 recombination events

Gene dosage-dependent transmitter release changes at neuromuscular synapses of Cacna1a R192Q knockin mice are non-progressive and do not lead to morphological changes or muscle weakness

The Mouse Low-Density Lipoprotein Receptor Gene: cDNA Sequence and Exon-Intron Structure

Characterization of acetylcholine release and the compensatory contribution of non-Cav2.1 channels at motor nerve terminals of leaner Cav2.1-mutant mice

Effect of oral omeprazole on serum gastrin and serum pepsinogen I levels

Low density lipoprotein receptor internalizes low density and very low density lipoproteins that are bound to heparan sulfate proteoglycans via lipoprotein lipase

G.O.3 Contraction-dependent (FSHD1) and independent (FSHD2) epigenetic changes of D4Z4 unify FSHD

Diagnostic Notch3 sequence analysis in CADASIL: Three new mutations in Dutch patients

G.O.3 Contraction-dependent (FSHD1) and independent (FSHD2) epigenetic changes of D4Z4 unify FSHD

Characterization of acetylcholine release and the compensatory contribution of non-Ca v2.1 channels at motor nerve terminals of leaner Ca v2.1-mutant mice

Llama-derived phage display antibodies in the dissection of the human disease oculopharyngeal muscular dystrophy

No effect of folic acid and methionine supplementation on D4Z4 methylation in patients with facioscapulohumeral muscular dystrophy

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