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Myotonic Dystrophy Type 2: Human Founder Haplotype and Evolutionary Conservation of the Repeat Tract

American journal of human genetics, 2003-10, Vol.73 (4), p.849-862

2003

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Mutations in CAV3 cause mechanical hyperirritability of skeletal muscle in rippling muscle disease

Nature genetics, 2001-07, Vol.28 (3), p.218-219

2001

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The Skeletal Muscle Chloride Channel in Dominant and Recessive Human Myotonia

Science (American Association for the Advancement of Science), 1992-08, Vol.257 (5071), p.797-800

1992

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Myotonic Dystrophy Type 2 Caused by a CCTG Expansion in Intron 1 of ZNF9

Science (American Association for the Advancement of Science), 2001-08, Vol.293 (5531), p.864-867

2001

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54th ENMC International Workshop: PROMM (Proximal Myotonic Myopathies) and Other Proximal Myotonic Syndromes 10–12th October 1997, Naarden, The Netherlands

Neuromuscular disorders : NMD, 1998-10, Vol.8 (7), p.508-518

1998

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Myotonic dystrophy and proximal myotonic myopathy

Journal of neurology, 1999-05, Vol.246 (5), p.334-338

Ricker, Kenneth

1999

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Homozygosity for CCTG mutation in myotonic dystrophy type 2

Brain (London, England : 1878), 2004-08, Vol.127 (8), p.1868-1877

2004

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Muscle pathology in 57 patients with myotonic dystrophy type 2

Muscle & nerve, 2004-02, Vol.29 (2), p.275-281

2004

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Membrane defects in paramyotonia congenita (eulenburg)

Muscle & nerve, 1987-09, Vol.10 (7), p.633-641

1987

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Report of the 84th ENMC Workshop: PROMM (Proximal Myotonic Myopathy) and Other Myotonic Dystrophy-Like Syndromes: 2nd Workshop. 13–15th October, 2000, Loosdrecht, The Netherlands

Neuromuscular disorders : NMD, 2002-03, Vol.12 (3), p.306-317

2002

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Motor neuropathy in porphobilinogen deaminase-deficient mice imitates the peripheral neuropathy of human acute porphyria

The Journal of clinical investigation, 1999-04, Vol.103 (8), p.1127-1134

1999

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Linkage data suggesting allelic heterogeneity for paramyotonia congenita and hyperkalemic periodic paralysis on chromosome 17

Human genetics, 1991-11, Vol.88 (1), p.71-74

1991

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The expanding clinical and genetic spectrum of the myotonic dystrophies

Acta neurologica Belgica, 2000-09, Vol.100 (3), p.151-155

Ricker, K

2000

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Spectrum of mutations in the major human skeletal muscle chloride channel gene (CLCN1) leading to myotonia

American journal of human genetics, 1995-12, Vol.57 (6), p.1325-1334

1995

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Proximal myotonic myopathy: evidence for anticipation in families with linkage to chromosome 3q

Neurology, 2000-08, Vol.55 (3), p.383-388

2000

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Assessment of cardiovascular autonomic function in myotonic dystrophy type 2 (DM2/PROMM)

Neuromuscular disorders : NMD, 2003-05, Vol.13 (4), p.289-293

2003

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Rippling Muscle Disease in Childhood

Journal of child neurology, 2002-07, Vol.17 (7), p.483-490

2002

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Unilateral calf enlargement following S1 radiculopathy

Muscle & nerve, 1982-07, Vol.5 (6), p.434-438

1982

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Writing Audio Scripts for Use with Blind Persons

Journal of visual impairment & blindness, 1981-09, Vol.75 (7), p.297-299

Ricker, Kenneth S.

1981

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Non-dystrophic myotonias and periodic paralyses: A European Neuromuscular Center Workshop held 4–6 October 1992, Ulm, Germany

Neuromuscular disorders : NMD, 1993-03, Vol.3 (2), p.161-168

1993

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Hereditary neuromyotonia: a mouse model associated with deficiency or increased gene dosage of the PMP22 gene

Journal of neurology, neurosurgery and psychiatry, 1997-12, Vol.63 (6), p.812-813

1997

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Paramyotonia congenita without paralysis on exposure to cold: A novel mutation in the SCN4A gene (Val 1293lle)

Neuroreport, 1995-10, Vol.6 (15), p.2001-2004

1995

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Visual Field Wideners: A Personal Report

Journal of visual impairment & blindness, 1978-01, Vol.72 (1), p.28-29

Ricker, Kenneth S.

1978

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Proximal myotonic myopathy (PROMM) and other proximal myotonic syndromes

Neuromuscular disorders : NMD, 1998-10, Vol.8 (7), p.519-520

1998

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A recurrent 14 bp deletion in the CLCN1 gene associated with generalized myotonia (Becker)

Human molecular genetics, 1994-06, Vol.3 (6), p.1015-1016

1994

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Myotonic Dystrophy Type 2: Human Founder Haplotype and Evolutionary Conservation of the Repeat Tract

Mutations in CAV3 cause mechanical hyperirritability of skeletal muscle in rippling muscle disease

The Skeletal Muscle Chloride Channel in Dominant and Recessive Human Myotonia

Myotonic Dystrophy Type 2 Caused by a CCTG Expansion in Intron 1 of ZNF9

54th ENMC International Workshop: PROMM (Proximal Myotonic Myopathies) and Other Proximal Myotonic Syndromes 10–12th October 1997, Naarden, The Netherlands

Myotonic dystrophy and proximal myotonic myopathy

Homozygosity for CCTG mutation in myotonic dystrophy type 2

Muscle pathology in 57 patients with myotonic dystrophy type 2

Membrane defects in paramyotonia congenita (eulenburg)

Report of the 84th ENMC Workshop: PROMM (Proximal Myotonic Myopathy) and Other Myotonic Dystrophy-Like Syndromes: 2nd Workshop. 13–15th October, 2000, Loosdrecht, The Netherlands

Motor neuropathy in porphobilinogen deaminase-deficient mice imitates the peripheral neuropathy of human acute porphyria

Linkage data suggesting allelic heterogeneity for paramyotonia congenita and hyperkalemic periodic paralysis on chromosome 17

The expanding clinical and genetic spectrum of the myotonic dystrophies

Spectrum of mutations in the major human skeletal muscle chloride channel gene (CLCN1) leading to myotonia

Proximal myotonic myopathy: evidence for anticipation in families with linkage to chromosome 3q

Assessment of cardiovascular autonomic function in myotonic dystrophy type 2 (DM2/PROMM)

Rippling Muscle Disease in Childhood

Unilateral calf enlargement following S1 radiculopathy

Writing Audio Scripts for Use with Blind Persons

Non-dystrophic myotonias and periodic paralyses: A European Neuromuscular Center Workshop held 4–6 October 1992, Ulm, Germany

Hereditary neuromyotonia: a mouse model associated with deficiency or increased gene dosage of the PMP22 gene

Paramyotonia congenita without paralysis on exposure to cold: A novel mutation in the SCN4A gene (Val 1293lle)

Visual Field Wideners: A Personal Report

Proximal myotonic myopathy (PROMM) and other proximal myotonic syndromes

A recurrent 14 bp deletion in the CLCN1 gene associated with generalized myotonia (Becker)

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