Rippling muscle disease

[1]  M. Roberts,et al.  Caveolinopathy – New mutations and additional symptoms , 2008, Neuromuscular Disorders.

[2]  F. Zara,et al.  Truncation of Caveolin-3 causes autosomal-recessive Rippling Muscle Disease , 2007, Journal of Neurology, Neurosurgery, and Psychiatry.

[3]  G. Lamb.  Rippling muscle disease may be caused by “silent” action potentials in the tubular system of skeletal muscle fibers , 2005, Muscle & nerve.

[4]  S. Woodman,et al.  Caveolinopathies: mutations in caveolin-3 cause four distinct autosomal dominant muscle diseases. , 2004, Neurology.

[5]  D. Figarella-Branger,et al.  Limb-girdle muscular dystrophy in a 71-year-old woman with an R27Q mutation in the CAV3 gene , 2003, Neurology.

[6]  K. North,et al.  Single section Western blot , 2003, Neurology.

[7]  S. Kikuchi,et al.  Caveolin‐3 gene mutation in Japanese with rippling muscle disease , 2003, Acta neurologica Scandinavica.

[8]  T. Brüning,et al.  Homozygous mutations in caveolin‐3 cause a severe form of rippling muscle disease , 2003, Annals of neurology.

[9]  M. Vorgerd,et al.  Rippling Muscle Disease in Childhood , 2002, Journal of child neurology.

[10]  I. Nonaka,et al.  Mutation in the caveolin-3 gene causes a peculiar form of distal myopathy , 2002, Neurology.

[11]  T. Torbergsen.  Rippling muscle disease: A review , 2002, Muscle & nerve. Supplement.

[12]  H. Goebel,et al.  A sporadic case of rippling muscle disease caused by a de novo caveolin-3 mutation , 2001, Neurology.

[13]  M. Nöthen,et al.  Mutations in CAV3 cause mechanical hyperirritability of skeletal muscle in rippling muscle disease , 2001, Nature Genetics.

[14]  F. Zara,et al.  Mutation in the CAV3 gene causes partial caveolin-3 deficiency and persistent elevated levels of serum creatine kinase , 2000, Neurology.

[15]  J. Malin,et al.  Phenotypic variability in rippling muscle disease , 1999, Neurology.

[16]  F. Zara,et al.  Mutations in the caveolin-3 gene cause autosomal dominant limb-girdle muscular dystrophy , 1998, Nature Genetics.

[17]  R. Moxley,et al.  Rippling muscle disease. , 1989, Archives of neurology.

[18]  A. M. Tsanaclis,et al.  [Increased muscular irritability syndrome: treatment with nifedipine. Report of a case]. , 1984 .

[19]  A. Tsanaclis,et al.  [Increased muscular irritability syndrome: treatment with nifedipine. Report of a case]. , 1984, Arquivos de neuro-psiquiatria.