Concepedia

New molecular findings in congenital myopathies due to selenoprotein N gene mutations

Rachele Cagliani, M.E. Fruguglietti, Angela Berardinelli, Maria Grazia D’Angelo, A. Prelle, Stefania Riva, Laura Napoli, Ksenija Gorni, Simona Orcesi, Costanza Lamperti,

Journal of the Neurological Sciences · 2010 · 25 citations · 27 references

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27

Intermediate filaments as mechanical integrators of cellular space

Elias Lazarides · Nature · 1980 · 2K citations

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Muscle Biopsy: A Practical Approach

Anthony J. Bourne · Pathology · 1986 · 581 citations

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Mutations in SEPN1 cause congenital muscular dystrophy with spinal rigidity and restrictive respiratory syndrome

Behzad Moghadaszadeh, Nathalie Petit, Céline Jaillard et al. · Nature Genetics · 2001 · 365 citations

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Mutations of the Selenoprotein N Gene, Which Is Implicated in Rigid Spine Muscular Dystrophy, Cause the Classical Phenotype of Multiminicore Disease: Reassessing the Nosology of Early-Onset Myopathies

Ana Ferreiro, Susana Quijano-Roy, Claire Pichereau et al. · The American Journal of Human Genetics · 2002 · 363 citations · Full text

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RyR1 S-Nitrosylation Underlies Environmental Heat Stroke and Sudden Death in Y522S RyR1 Knockin Mice

William J. Durham, Paula Aracena-Parks, Cheng Long et al. · Cell · 2008 · 342 citations · Full text

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