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Human mitochondrial DNA deletions associated with mutations in the gene encoding Twinkle, a phage T7 gene 4-like protein localized in mitochondria

Nature genetics, 2001-07, Vol.28 (3), p.223-231

2001

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Novel functional ?-subunit polypeptide generated by a single nucleotide deletion in acetylcholine receptor deficiency congenital myasthenic syndrome

Annals of neurology, 1999-10, Vol.46 (4), p.639-647

1999

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Acetylcholine receptor delta subunit mutations underlie a fast-channel myasthenic syndrome and arthrogryposis multiplex congenita

The Journal of clinical investigation, 2001-07, Vol.108 (1), p.125-130

2001

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Mutations in Different Functional Domains of the Human Muscle Acetylcholine Receptor α Subunit in Patients with the Slow-Channel congenital Myasthenic Syndrome

Human molecular genetics, 1997-05, Vol.6 (5), p.767-774

1997

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End-plate γ- and ε-subunit mRNA levels in AChR deficiency syndrome due to ε-subunit null mutations

Brain (London, England : 1878), 2001-07, Vol.124 (7), p.1362-1372

2001

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Myasthenia gravis in a woman with congenital AChR deficiency due to epsilon-subunit mutations

Neurology, 2002-05, Vol.58 (10), p.1563

2002

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Mutation of the acetylcholine receptor ε-subunit promoter in congenital myasthenic syndrome

Annals of neurology, 1999-04, Vol.45 (4), p.439-443

1999

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Genes at the junction – candidates for congenital myasthenic syndromes

Trends in neurosciences (Regular ed.), 1997, Vol.20 (1), p.15-22

1997

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Novel functional ε-subunit polypeptide generated by a single nucleotide deletion in acetylcholine receptor deficiency congenital myasthenic syndrome

Annals of neurology, 1999-10, Vol.46 (4), p.639-647

1999

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Structural Abnormalities of the AChR Caused by Mutations Underlying Congenital Myasthenic Syndromes

Annals of the New York Academy of Sciences, 2003-09, Vol.998 (1), p.114-124

2003

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Comparison of the growth potential of retinal pigment epithelial cells obtained during vitrectomy in patients with age-related macular degeneration or complex retinal detachment

Graefe's archive for clinical and experimental ophthalmology, 2004-05, Vol.242 (5), p.442-443

2004

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End-plate [gamma]- and [varepsilon]-subunit mRNA levels in AChR deficiency syndrome due to [varepsilon]-subunit null mutations

Brain (London, England : 1878), 2001-07, Vol.124 (7), p.1362

2001

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Somatostatin in diabetic retinopathy

Pediatric endocrinology reviews : PER, 2004-08, Vol.1 Suppl 3, p.518

2004

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Mutation of the acetylcholine receptor ?-subunit promoter in congenital myasthenic syndrome

Annals of neurology, 1999-04, Vol.45 (4), p.439-443

1999

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Molecular genetic studies in hereditary/congenital myasthenia

Croxen, Rebecca

1998

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Dominantly inherited familial myasthenia gravis as a separate genetic entity without involvement of defined candidate gene loci

International journal of molecular medicine, 2001-03, Vol.7 (3), p.289

2001

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A Single Nucleotide Deletion in the ɛ Subunit of the Acetylcholine Receptor (AChR) in Five Congenital Myasthenic Syndrome Patients with AChR Deficiencya

Annals of the New York Academy of Sciences, 1998-05, Vol.841 (1), p.195-198

1998

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A Single Nucleotide Deletion in the ɛ Subunit of the Acetylcholine Receptor (AChR) in Five Congenital Myasthenic Syndrome Patients with AChR Deficiency

Annals of the New York Academy of Sciences, 1998-05, Vol.841 (1), p.195-198

1998

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Isolation of an Ustilago maydis gene encoding 3-hydroxy-3-methylglutaryl-coenzyme A reductase and expression of a C-terminal-truncated form in Escherichia coli

Microbiology (Society for General Microbiology), 1994-09, Vol.140 ( Pt 9), p.2363

1994

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Isolation of the ERG2 Gene, Encoding Δ8 → Δ7 Sterol Isomerase, from the Maize Smut Pathogen Ustilago maydis

Experimental mycology, 1994-03, Vol.18 (1), p.87-92

1994

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Human mitochondrial DNA deletions associated with mutations in the gene encoding Twinkle, a phage T7 gene 4-like protein localized in mitochondria

Novel functional ?-subunit polypeptide generated by a single nucleotide deletion in acetylcholine receptor deficiency congenital myasthenic syndrome

Acetylcholine receptor delta subunit mutations underlie a fast-channel myasthenic syndrome and arthrogryposis multiplex congenita

Mutations in Different Functional Domains of the Human Muscle Acetylcholine Receptor α Subunit in Patients with the Slow-Channel congenital Myasthenic Syndrome

End-plate γ- and ε-subunit mRNA levels in AChR deficiency syndrome due to ε-subunit null mutations

Myasthenia gravis in a woman with congenital AChR deficiency due to epsilon-subunit mutations

Mutation of the acetylcholine receptor ε-subunit promoter in congenital myasthenic syndrome

Genes at the junction – candidates for congenital myasthenic syndromes

Novel functional ε-subunit polypeptide generated by a single nucleotide deletion in acetylcholine receptor deficiency congenital myasthenic syndrome

Structural Abnormalities of the AChR Caused by Mutations Underlying Congenital Myasthenic Syndromes

Comparison of the growth potential of retinal pigment epithelial cells obtained during vitrectomy in patients with age-related macular degeneration or complex retinal detachment

End-plate [gamma]- and [varepsilon]-subunit mRNA levels in AChR deficiency syndrome due to [varepsilon]-subunit null mutations

Somatostatin in diabetic retinopathy

Mutation of the acetylcholine receptor ?-subunit promoter in congenital myasthenic syndrome

Molecular genetic studies in hereditary/congenital myasthenia

Dominantly inherited familial myasthenia gravis as a separate genetic entity without involvement of defined candidate gene loci

A Single Nucleotide Deletion in the ɛ Subunit of the Acetylcholine Receptor (AChR) in Five Congenital Myasthenic Syndrome Patients with AChR Deficiencya

A Single Nucleotide Deletion in the ɛ Subunit of the Acetylcholine Receptor (AChR) in Five Congenital Myasthenic Syndrome Patients with AChR Deficiency

Isolation of an Ustilago maydis gene encoding 3-hydroxy-3-methylglutaryl-coenzyme A reductase and expression of a C-terminal-truncated form in Escherichia coli

Isolation of the ERG2 Gene, Encoding Δ8 → Δ7 Sterol Isomerase, from the Maize Smut Pathogen Ustilago maydis

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