Harpey JP - Search Results

1

[Congenital muscular dystrophy with merosin deficiency: clinical, histopathological, immunocytochemical and genetic analysis].

Fardeau M, Tomé FM, Helbling-Leclerc A, Evangelista T, Ottolini A, Chevallay M, Barois A, Estournet B, Harpey JP, Fauré S, Guicheney P, Hillaire D. Fardeau M, et al. Among authors: harpey jp. Rev Neurol (Paris). 1996 Jan;152(1):11-9. Rev Neurol (Paris). 1996. PMID: 8729391 French.

2

PCR based mutation screening of the laminin alpha2 chain gene (LAMA2): application to prenatal diagnosis and search for founder effects in congenital muscular dystrophy.

Guicheney P, Vignier N, Zhang X, He Y, Cruaud C, Frey V, Helbling-Leclerc A, Richard P, Estournet B, Merlini L, Topaloglu H, Mora M, Harpey JP, Haenggeli CA, Barois A, Hainque B, Schwartz K, Tomé FM, Fardeau M, Tryggvason K. Guicheney P, et al. Among authors: harpey jp. J Med Genet. 1998 Mar;35(3):211-7. doi: 10.1136/jmg.35.3.211. J Med Genet. 1998. PMID: 9541105 Free PMC article.

3

[Congenital desproportion of various types of muscle fiber, with relative small size of type I fibers. Morphological documents on muscle biopsies in 3 members of the same family].

Fardeau M, Harpey JP, Caille B. Fardeau M, et al. Among authors: harpey jp. Rev Neurol (Paris). 1975 Nov;131(11):745-66. Rev Neurol (Paris). 1975. PMID: 130671 French.

4

[Mitochondrial function and mitochondrial DNA in a series of 64 patients suspected of having mitochondrial myopathy].

Marsac C, Degoul F, Bonne G, Romero N, Nelson I, Fardeau M, François D, Ponsot G, Harpey JP, Eymard B, et al. Marsac C, et al. Among authors: harpey jp. Rev Neurol (Paris). 1991;147(6-7):462-6. Rev Neurol (Paris). 1991. PMID: 1962051 French.

5

[Neonatal hypotonias with congenital disproportion of various types of muscular fiber, especially type I fibers. Demonstration of the familial character of this new entity].

Fardeau M, Harpey JP, Caille B, Lafourcade J. Fardeau M, et al. Among authors: harpey jp. Arch Fr Pediatr. 1975 Dec;32(10):901-13. Arch Fr Pediatr. 1975. PMID: 1231675 French.

6

[Congenital selective hypotonia of type I muscular fibers. Apropos of 2 cases].

Caille B, Fardeau M, Harpey JP, Lafourcade J. Caille B, et al. Among authors: harpey jp. Arch Fr Pediatr. 1971 Feb;28(2):205-20. Arch Fr Pediatr. 1971. PMID: 5581478 French. No abstract available.

7

Secondary metabolic defects in spinal muscular atrophy type II.

Harpey JP, Charpentier C, Paturneau-Jouas M, Renault F, Romero N, Fardeau M. Harpey JP, et al. Lancet. 1990 Sep 8;336(8715):629-30. doi: 10.1016/0140-6736(90)93426-p. Lancet. 1990. PMID: 1975398 No abstract available.

8

[Myasthenia and pregnancy: a clinical and immunologic study of 42 cases (21 neonatal myasthenia cases)].

Eymard B, Morel E, Dulac O, Moutard-Codou ML, Jeannot E, Harpey JP, Rondot P, Bach JF. Eymard B, et al. Among authors: harpey jp. Rev Neurol (Paris). 1989;145(10):696-701. Rev Neurol (Paris). 1989. PMID: 2814151 French.

9

[Contribution of the electromyogram in the diagnosis of infantile spinal muscular atrophy in the neonatal period].

Renault F, Chartier JP, Harpey JP. Renault F, et al. Among authors: harpey jp. Arch Pediatr. 1996 Apr;3(4):319-23. doi: 10.1016/0929-693x(96)84684-7. Arch Pediatr. 1996. PMID: 8762951 French.

10

Familial deletion of Xp21.2 with glycerol kinase deficiency and congenital adrenal hypoplasia.

Marlhens F, Chelly J, Kaplan JC, Lefrancois D, Harpey JP, Dutrillaux B. Marlhens F, et al. Among authors: harpey jp. Hum Genet. 1987 Dec;77(4):379-83. doi: 10.1007/BF00291430. Hum Genet. 1987. PMID: 2891606

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