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Desmin myopathy

Brain (London, England : 1878), 2004-04, Vol.127 (4), p.723-734

2004

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Disease severity in dominant Emery Dreifuss is increased by mutations in both emerin and desmin proteins

Brain (London, England : 1878), 2006-05, Vol.129 (5), p.1260-1268

2006

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New insights into the protein aggregation pathology in myotilinopathy by combined proteomic and immunolocalization analyses

Acta neuropathologica communications, 2016-02, Vol.4 (8), p.8-8, Article 8

2016

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T cell receptor profiling in muscle and blood lymphocytes in sporadic inclusion body myositis

Neurology, 2007-10, Vol.69 (17), p.1672-1679

2007

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Desmin Myopathy, a Skeletal Myopathy with Cardiomyopathy Caused by Mutations in the Desmin Gene

The New England journal of medicine, 2000-03, Vol.342 (11), p.770-780

2000

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Missense mutations in desmin associated with familial cardiac and skeletal myopathy

Nature genetics, 1998-08, Vol.19 (4), p.402-403

1998

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Human spongiform encephalopathy: The national institutes of health series of 300 cases of experimentally transmitted disease

Annals of neurology, 1994-05, Vol.35 (5), p.513-529

1994

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Differential proteomic analysis of abnormal intramyoplasmic aggregates in desminopathy

Journal of proteomics, 2013-09, Vol.90, p.14-27

2013

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Identification of fifteen novel mutations and genotype-phenotype relationship in Fabry disease

Clinical genetics, 2001-07, Vol.60 (1), p.46-51

2001

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A simple and efficient method for apolipoprotein E genotype determination

Neurology, 1996-05, Vol.46 (5), p.1484

1996

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Genetic studies in relation to kuru: an overview

Current molecular medicine, 2004-06, Vol.4 (4), p.375-384

2004

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Inherited prion encephalopathy associated with the novel PRNP H187R mutation: a clinical study

Neurology, 2000-08, Vol.55 (4), p.517-522

2000

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Fatal Familial Insomnia and Familial Creutzfeldt-Jakob Disease: Different Prion Proteins Determined by a DNA Polymorphism

Proceedings of the National Academy of Sciences - PNAS, 1994-03, Vol.91 (7), p.2839-2842

1994

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Desmin splice variants causing cardiac and skeletal myopathy

Journal of medical genetics, 2000-11, Vol.37 (11), p.851-857

2000

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Unstable triplet repeat and phenotypic variability of spinocerebellar ataxia type 1

Annals of neurology, 1996-04, Vol.39 (4), p.500-506

1996

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Iatrogenic Creutzfeldt-Jakob disease: an example of the interplay between ancient genes and modern medicine

Neurology, 1994-02, Vol.44 (2), p.291-291

1994

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Ancestral Origins and Worldwide Distribution of the PRNP 200K Mutation Causing Familial Creutzfeldt-Jakob Disease

American journal of human genetics, 1999-04, Vol.64 (4), p.1063-1070

1999

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Small de novo duplication in the repeat region of the TATA-box-binding protein gene manifest with a phenotype similar to variant Creutzfeldt-Jakob disease

Clinical genetics, 2004-12, Vol.66 (6), p.496-501

2004

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The new biology of spongiform encephalopathy: infectious amyloidoses with a genetic twist

The Lancet (British edition), 1991-04, Vol.337 (8748), p.1019-1022

1991

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The transmissible spongiform encephalopathies

Annual review of medicine, 1995-01, Vol.46 (1), p.57-65

1995

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Clinical and genetic studies of fatal familial insomnia

Neurology, 1995-06, Vol.45 (6), p.1068-1075

1995

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Creutzfeldt-Jakob disease in a husband and wife

Neurology, 1998-03, Vol.50 (3), p.684-688

1998

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Mutation in codon 200 of scrapie amyloid protein gene in two clusters of Creutzfeldt-Jakob disease in Slovakia

The Lancet (British edition), 1990-08, Vol.336 (8713), p.514-515

1990

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Autosomal dominant distal spinal muscular atrophy type V (dSMA-V) and Charcot-Marie-Tooth disease type 2D (CMT2D) segregate within a single large kindred and map to a refined region on chromosome 7p15

Journal of the neurological sciences, 1998-11, Vol.161 (1), p.23-28

1998

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Mutations in American families with spinocerebellar ataxia (SCA) type 3: SCA3 is allelic to Machado-Joseph disease

Neurology, 1996-01, Vol.46 (1), p.208-213

1996

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Desmin myopathy

Disease severity in dominant Emery Dreifuss is increased by mutations in both emerin and desmin proteins

New insights into the protein aggregation pathology in myotilinopathy by combined proteomic and immunolocalization analyses

T cell receptor profiling in muscle and blood lymphocytes in sporadic inclusion body myositis

Desmin Myopathy, a Skeletal Myopathy with Cardiomyopathy Caused by Mutations in the Desmin Gene

Missense mutations in desmin associated with familial cardiac and skeletal myopathy

Human spongiform encephalopathy: The national institutes of health series of 300 cases of experimentally transmitted disease

Differential proteomic analysis of abnormal intramyoplasmic aggregates in desminopathy

Identification of fifteen novel mutations and genotype-phenotype relationship in Fabry disease

A simple and efficient method for apolipoprotein E genotype determination

Genetic studies in relation to kuru: an overview

Inherited prion encephalopathy associated with the novel PRNP H187R mutation: a clinical study

Fatal Familial Insomnia and Familial Creutzfeldt-Jakob Disease: Different Prion Proteins Determined by a DNA Polymorphism

Desmin splice variants causing cardiac and skeletal myopathy

Unstable triplet repeat and phenotypic variability of spinocerebellar ataxia type 1

Iatrogenic Creutzfeldt-Jakob disease: an example of the interplay between ancient genes and modern medicine

Ancestral Origins and Worldwide Distribution of the PRNP 200K Mutation Causing Familial Creutzfeldt-Jakob Disease

Small de novo duplication in the repeat region of the TATA-box-binding protein gene manifest with a phenotype similar to variant Creutzfeldt-Jakob disease

The new biology of spongiform encephalopathy: infectious amyloidoses with a genetic twist

The transmissible spongiform encephalopathies

Clinical and genetic studies of fatal familial insomnia

Creutzfeldt-Jakob disease in a husband and wife

Mutation in codon 200 of scrapie amyloid protein gene in two clusters of Creutzfeldt-Jakob disease in Slovakia

Autosomal dominant distal spinal muscular atrophy type V (dSMA-V) and Charcot-Marie-Tooth disease type 2D (CMT2D) segregate within a single large kindred and map to a refined region on chromosome 7p15

Mutations in American families with spinocerebellar ataxia (SCA) type 3: SCA3 is allelic to Machado-Joseph disease

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