Thierry Larmonier - DNA and Cell Bank, Genethon

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论文共 11 篇作者统计合作学者相似作者

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Generation of Two Ipsc Lines from Adult Central Core Disease Patients with Dominant Missense Variants in the RYR1 Gene

Joshua S. Clayton,Christina Vo,Jordan Crane,Carolin K. Scriba,Safaa Saker,Thierry Larmonier,Edoardo Malfatti,Norma B. Romero,Gianina Ravenscroft,Nigel G. Laing,Rhonda L. Taylor

Stem Cell Research（2024）

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Generation of Ipsc Lines from Three Laing Distal Myopathy Patients with a Recurrent MYH7 P.lys1617del Variant

Joshua S. Clayton,Christina Vo,Jordan Crane,Carolin K. Scriba,Safaa Saker,Thierry Larmonier,Edoardo Malfatti,Norma B. Romero,Gianina Ravenscroft,Nigel G. Laing,Rhonda L. Taylor

STEM CELL RESEARCH (2024)

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Generation of Two Induced Pluripotent Stem Cell Lines from a 33-Year-old Central Core Disease Patient with a Heterozygous Dominant C.14145_14156delctactgggaca (p.asn4715_asp4718del) Deletion in the RYR1 Gene

Karrison Driver,Christina Vo,Carolin K. Scriba,Safaa Saker,Thierry Larmonier,Edoardo Malfatti,Norma B. Romero,Gianina Ravenscroft,Nigel G. Laing,Rhonda L. Taylor,Joshua S. Clayton

STEM CELL RESEARCH (2023)

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Generation of an Induced Pluripotent Stem Cell Line from a 3-Month-old Nemaline Myopathy Patient with a Heterozygous Dominant C.515c > A (p.ala172glu) Variant in the ACTA1 Gene

Joshua S. Clayton,Isabella Suleski,Christina Vo,Robert Smith,Carolin K. Scriba,Safaa Saker,Thierry Larmonier,Edoardo Malfatti,Norma B. Romero,Peter J. Houweling,Kristen J. Nowak,Gianina Ravenscroft,Nigel G. Laing,Rhonda L. Taylor

Stem Cell Research（2022）

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Generation of Two Isogenic Induced Pluripotent Stem Cell Lines from a 1-Month-old Nemaline Myopathy Patient Harbouring a Homozygous Recessive C.121c > T (p.arg39ter) Variant in the ACTA1 Gene

Isabella S. Suleski,Robert Smith,Christina Vo,Carolin K. Scriba,Safaa Saker,Thierry Larmonier,Edoardo Malfatti,Norma B. Romero,Peter J. Houweling,Kristen J. Nowak,Nigel G. Laing,Rhonda L. Taylor,Joshua S. Clayton

Stem Cell Research（2022）

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Generation of two isogenic induced pluripotent stem cell lines from a 4-month-old severe nemaline myopathy patient with a heterozygous dominant c.553C > A (p.Arg183Ser) variant in the ACTA1 gene

Joshua S Clayton,Carolin K Scriba,Norma B Romero,Edoardo Malfatti,Safaa Saker,Thierry Larmonier,Kristen J Nowak,Gianina Ravenscroft,Nigel G Laing,Rhonda L Taylor

Stem cell research（2021）

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Generation of Two Isogenic Induced Pluripotent Stem Cell Lines from a 10-Year-old Typical Nemaline Myopathy Patient with a Heterozygous Dominant C.541g>a (p.asp179asn) Pathogenic Variant in the ACTA1 Gene

Joshua S. Clayton,Carolin K. Scriba,Norma B. Romero,Edoardo Malfatti,Safaa Saker,Thierry Larmonier,Kristen J. Nowak,Gianina Ravenscroft,Nigel G. Laing,Rhonda L. Taylor

Stem Cell Research (2021): 102482-102482

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Generation of Two Isogenic Induced Pluripotent Stem Cell Lines from a 4-Month-old Severe Nemaline Myopathy Patient with a Heterozygous Dominant C.553c > A (p.arg183ser) Variant in the ACTA1 Gene

Joshua S. Clayton,Carolin K. Scriba, Norma B. Romero,Edoardo Malfatti,Safaa Saker,Thierry Larmonier,Kristen J. Nowak,Gianina Ravenscroft,Nigel G. Laing,Rhonda L. Taylor

STEM CELL RESEARCH (2021)

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