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Repeat-associated non-ATG (RAN) translation in neurological disease

Human molecular genetics, 2013-10, Vol.22 (R1), p.R45-R51

2013

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Heterozygosity for a protein truncation mutation of sodium channel SCN8A in a patient with cerebellar atrophy, ataxia, and mental retardation

Journal of medical genetics, 2006-06, Vol.43 (6), p.527-530

2006

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Insulin Receptor Splicing Alteration in Myotonic Dystrophy Type 2

American journal of human genetics, 2004-06, Vol.74 (6), p.1309-1313

2004

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Myotonic dystrophy type 2: molecular, diagnostic and clinical spectrum

Neurology, 2003-02, Vol.60 (4), p.657

2003

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Correlating phenotype and genotype in the periodic paralyses

Neurology, 2004-11, Vol.63 (9), p.1647

2004

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Sudden cardiac death in myotonic dystrophy type 2

Neurology, 2004-12, Vol.63 (12), p.2402

2004

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Spinocerebellar ataxia type 20 is genetically distinct from spinocerebellar ataxia type 5

Neurology, 2006-12, Vol.67 (11), p.2084

2006

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The clinical and genetic spectrum of spinocerebellar ataxia 14

Neurology, 2005-04, Vol.64 (7), p.1258

2005

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Mutant -III Spectrin Causes mGluR1 Mislocalization and Functional Deficits in a Mouse Model of Spinocerebellar Ataxia Type 5

The Journal of neuroscience, 2014-07, Vol.34 (30), p.9891-9904

2014

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Nuclear Localization of the Spinocerebellar Ataxia Type 7 Protein, Ataxin-7

Human molecular genetics, 1999-09, Vol.8 (9), p.1657-1664

1999

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Spinocerebellar ataxia type 10 is rare in populations other than Mexicans

Neurology, 2002-03, Vol.58 (6), p.983

2002

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An untranslated CTG expansion causes a novel form of spinocerebellar ataxia (SCA8)

Nature genetics, 1999-04, Vol.21 (4), p.379-384

1999

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Genetic mapping of a second myotonic dystrophy locus

Nature genetics, 1998-06, Vol.19 (2), p.196-198

1998

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Molecular Genetic Advances in Neurological Disease: Special Review Issue

Human molecular genetics, 2010-04, Vol.19 (R1), p.R1-R3

2010

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140th ENMC International Workshop: Myotonic Dystrophy DM2/PROMM and other myotonic dystrophies with guidelines on management

Neuromuscular disorders : NMD, 2006-06, Vol.16 (6), p.403-413

2006

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Spinocerebellar ataxia type 8: clinical features in a large family

Neurology, 2000-09, Vol.55 (5), p.649

2000

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Incidence of dominant spinocerebellar and Friedreich triplet repeats among 361 ataxia families

Neurology, 1998-12, Vol.51 (6), p.1666

1998

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SCA8 CTG repeat : en masse contractions in sperm and intergenerational sequence changes may play a role in reduced penetrance

Human molecular genetics, 2000-09, Vol.9 (14), p.2125-2130

2000

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Spinocerebellar ataxia type 5 in a family descended from the grandparents of President Lincoln maps to chromosome 11

Nature genetics, 1994-11, Vol.8 (3), p.280-284

1994

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Hippocampal sclerosis dementia with the C9ORF72 hexancleotide repeat expansion

Neurobiology of aging, 2014-04, Vol.35 (10), p.2419.e17-2419.e21

2014

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Cag repeat length in RAI1 is associated with age at onset variability in spinocerebellar ataxia type 2 (SCA2)

Human molecular genetics, 2000-07, Vol.9 (12), p.1753-1758

2000

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Molecular and clinical correlations in spinocerebellar ataxia type I : evidence for familial effects on the age at onset

American journal of human genetics, 1994-08, Vol.55 (2), p.244-252

1994

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Rapid cloning of expanded trinucleotide repeat sequences from genomic DNA

Nature genetics, 1998-01, Vol.18 (1), p.72-75

1998

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A nonpathogenic GAAGGA repeat in the Friedreich gene: implications for pathogenesis

Neurology, 1999-11, Vol.53 (8), p.1854

1999

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Isolation and characterization of the nitrate reductase structural gene of Chlamydomonas reinhardtii

Proceedings of the National Academy of Sciences - PNAS, 1989-09, Vol.86 (17), p.6449-6453

1989

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Repeat-associated non-ATG (RAN) translation in neurological disease

Heterozygosity for a protein truncation mutation of sodium channel SCN8A in a patient with cerebellar atrophy, ataxia, and mental retardation

Insulin Receptor Splicing Alteration in Myotonic Dystrophy Type 2

Myotonic dystrophy type 2: molecular, diagnostic and clinical spectrum

Correlating phenotype and genotype in the periodic paralyses

Sudden cardiac death in myotonic dystrophy type 2

Spinocerebellar ataxia type 20 is genetically distinct from spinocerebellar ataxia type 5

The clinical and genetic spectrum of spinocerebellar ataxia 14

Mutant -III Spectrin Causes mGluR1 Mislocalization and Functional Deficits in a Mouse Model of Spinocerebellar Ataxia Type 5

Nuclear Localization of the Spinocerebellar Ataxia Type 7 Protein, Ataxin-7

Spinocerebellar ataxia type 10 is rare in populations other than Mexicans

An untranslated CTG expansion causes a novel form of spinocerebellar ataxia (SCA8)

Genetic mapping of a second myotonic dystrophy locus

Molecular Genetic Advances in Neurological Disease: Special Review Issue

140th ENMC International Workshop: Myotonic Dystrophy DM2/PROMM and other myotonic dystrophies with guidelines on management

Spinocerebellar ataxia type 8: clinical features in a large family

Incidence of dominant spinocerebellar and Friedreich triplet repeats among 361 ataxia families

SCA8 CTG repeat : en masse contractions in sperm and intergenerational sequence changes may play a role in reduced penetrance

Spinocerebellar ataxia type 5 in a family descended from the grandparents of President Lincoln maps to chromosome 11

Hippocampal sclerosis dementia with the C9ORF72 hexancleotide repeat expansion

Cag repeat length in RAI1 is associated with age at onset variability in spinocerebellar ataxia type 2 (SCA2)

Molecular and clinical correlations in spinocerebellar ataxia type I : evidence for familial effects on the age at onset

Rapid cloning of expanded trinucleotide repeat sequences from genomic DNA

A nonpathogenic GAAGGA repeat in the Friedreich gene: implications for pathogenesis

Isolation and characterization of the nitrate reductase structural gene of Chlamydomonas reinhardtii

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