I Penisson-Besnier

Summary

Affiliation: Centre Hospitalier Universitaire
Country: France

Publications

  1. ncbi request reprint Diagnosis of myotubular myopathy in the oldest known manifesting female carrier: a clinical and genetic study
    Isabelle Pénisson-Besnier
    Centre de référence Maladies Neuromusculaires rares Nantes Angers, Centre Hospitalier Universitaire d Angers, 4 rue Larrey, F 49033 Angers, France
    Neuromuscul Disord 17:180-5. 2007
  2. doi request reprint Myopathies caused by homozygous titin mutations: limb-girdle muscular dystrophy 2J and variations of phenotype
    I Penisson-Besnier
    Departement de Neurologie, Centre de Référence des maladies Neuromusculaires, Centre Hospitalier Universitaire d Angers, 4 rue Larrey, 49933 Angers Cedex 9, France
    J Neurol Neurosurg Psychiatry 81:1200-2. 2010
  3. doi request reprint [Treatment of autoimmune myasthenia]
    I Penisson-Besnier
    Departement de Neurologie, Centre de Référence des maladies Neuromusculaires, CHU d Angers, 4 rue Larrey, 49933 Angers cedex 09, France
    Rev Neurol (Paris) 166:400-5. 2010
  4. ncbi request reprint [Multiple sclerosis and Leber's hereditary optic neuropathy mitochondrial DNA mutations]
    I Penisson-Besnier
    Departement de Neurologie, Centre Hospitalier Universitaire, Angers
    Rev Neurol (Paris) 157:537-41. 2001
  5. ncbi request reprint [Distal myopathies]
    I Penisson-Besnier
    Departement de Neurologie, Hopital Larrey, Centre Hospitalier Universitaire d Angers, 4 rue Larrey, 49033 Angers Cedex 01
    Rev Neurol (Paris) 160:211-6. 2004
  6. ncbi request reprint Myotilinopathy in a family with late onset myopathy
    Isabelle Pénisson-Besnier
    Departement de Neurologie, Centre Hospitalier Universitaire d Angers, 4 rue Larrey, 49033 Angers, France
    Neuromuscul Disord 16:427-31. 2006
  7. doi request reprint [Ocular disturbances in neuromuscular disorders]
    I Penisson-Besnier
    Centre de référence maladies neuromusculaires de Nantes Angers, Departement de Neurologie, Centre Hospitalier Universitaire d Angers, 4, rue Larrey, 49933 Angers Cedex 9, France
    Rev Neurol (Paris) 164:902-11. 2008
  8. ncbi request reprint A second pedigree with autosomal dominant nemaline myopathy caused by TPM3 mutation: a clinical and pathological study
    Isabelle Pénisson-Besnier
    Centre de Référence Maladies Neuromusculaires de l Enfant et de l Adulte, Nantes Angers, France
    Neuromuscul Disord 17:330-7. 2007
  9. ncbi request reprint Pseudometabolic expression and phenotypic variability of calpain deficiency in two siblings
    I Penisson-Besnier
    Service de Neurologie A, Hopital Larrey, CHRU, Angers, France
    Muscle Nerve 21:1078-80. 1998
  10. ncbi request reprint mtDNA haplogroup J: a contributing factor of optic neuritis
    P Reynier
    Laboratoire de Biochimie et Biologie Moleculaire, Centre Hospitalier Universitaire d Angers, France
    Eur J Hum Genet 7:404-6. 1999

Detail Information

Publications13

  1. ncbi request reprint Diagnosis of myotubular myopathy in the oldest known manifesting female carrier: a clinical and genetic study
    Isabelle Pénisson-Besnier
    Centre de référence Maladies Neuromusculaires rares Nantes Angers, Centre Hospitalier Universitaire d Angers, 4 rue Larrey, F 49033 Angers, France
    Neuromuscul Disord 17:180-5. 2007
    ..Two large heteroplasmic deletions were also detected in the muscle mitochondrial DNA of the propositus, raising the question of their putative impact on the phenotype...
  2. doi request reprint Myopathies caused by homozygous titin mutations: limb-girdle muscular dystrophy 2J and variations of phenotype
    I Penisson-Besnier
    Departement de Neurologie, Centre de Référence des maladies Neuromusculaires, Centre Hospitalier Universitaire d Angers, 4 rue Larrey, 49933 Angers Cedex 9, France
    J Neurol Neurosurg Psychiatry 81:1200-2. 2010
    ..Autopsy findings in one of the original Finnish limb-girdle muscular dystrophy 2J patients were reported and the early phenotype in a newly identified young patient with homozygous Finnish C-terminal titin mutation (FINmaj) was detailed...
  3. doi request reprint [Treatment of autoimmune myasthenia]
    I Penisson-Besnier
    Departement de Neurologie, Centre de Référence des maladies Neuromusculaires, CHU d Angers, 4 rue Larrey, 49933 Angers cedex 09, France
    Rev Neurol (Paris) 166:400-5. 2010
    ..In all cases, adequate education, for the patient and the physician, is most helpful in facilitating management of this chronic disease...
  4. ncbi request reprint [Multiple sclerosis and Leber's hereditary optic neuropathy mitochondrial DNA mutations]
    I Penisson-Besnier
    Departement de Neurologie, Centre Hospitalier Universitaire, Angers
    Rev Neurol (Paris) 157:537-41. 2001
    ..However, MS patients with haplogroups J or X appear to have a moderately higher risk of developing optic neuritis. Thus, a specific mtDNA background may be a predisposing genetic factor for optic nerve damage in MS patients...
  5. ncbi request reprint [Distal myopathies]
    I Penisson-Besnier
    Departement de Neurologie, Hopital Larrey, Centre Hospitalier Universitaire d Angers, 4 rue Larrey, 49033 Angers Cedex 01
    Rev Neurol (Paris) 160:211-6. 2004
    ....
  6. ncbi request reprint Myotilinopathy in a family with late onset myopathy
    Isabelle Pénisson-Besnier
    Departement de Neurologie, Centre Hospitalier Universitaire d Angers, 4 rue Larrey, 49033 Angers, France
    Neuromuscul Disord 16:427-31. 2006
    ..Extended morphological characteristics of muscle biopsy findings in myotilinopathy indicate that immunohistochemistry may be important for selection of molecular genetic approach in myofibrillar myopathy...
  7. doi request reprint [Ocular disturbances in neuromuscular disorders]
    I Penisson-Besnier
    Centre de référence maladies neuromusculaires de Nantes Angers, Departement de Neurologie, Centre Hospitalier Universitaire d Angers, 4, rue Larrey, 49933 Angers Cedex 9, France
    Rev Neurol (Paris) 164:902-11. 2008
    ..In all cases, the collaboration between the neurologist and the ophthalmologist is fruitful...
  8. ncbi request reprint A second pedigree with autosomal dominant nemaline myopathy caused by TPM3 mutation: a clinical and pathological study
    Isabelle Pénisson-Besnier
    Centre de Référence Maladies Neuromusculaires de l Enfant et de l Adulte, Nantes Angers, France
    Neuromuscul Disord 17:330-7. 2007
    ..While a type II fibre predominance was described in the sporadic case, we observed an almost complete type I fibre predominance. This study emphasizes the variability in histopathological phenotypes seen with TPM3 mutations...
  9. ncbi request reprint Pseudometabolic expression and phenotypic variability of calpain deficiency in two siblings
    I Penisson-Besnier
    Service de Neurologie A, Hopital Larrey, CHRU, Angers, France
    Muscle Nerve 21:1078-80. 1998
    ..Onset was around 20 years of age in each of them. The girl's symptoms mimicked a metabolic myopathy, while her brother, at the same age, presented a classical phenotype of LGMD in an advanced functional stage...
  10. ncbi request reprint mtDNA haplogroup J: a contributing factor of optic neuritis
    P Reynier
    Laboratoire de Biochimie et Biologie Moleculaire, Centre Hospitalier Universitaire d Angers, France
    Eur J Hum Genet 7:404-6. 1999
    ..Therefore, we hypothesize that mtDNA haplogroup J might constitute a risk factor for optic neuritis occurrence when it is coincidentally associated with MS, but not be a risk factor for developing MS per se as suggested previously...
  11. ncbi request reprint [Trismus, pseudobulbar syndrome and cerebral deep venous thrombosis]
    C Alecu
    Service de Neurologie A, CHU d Angers, Cedex, France
    Rev Neurol (Paris) 157:309-14. 2001
    ..This hyperdensity of the falx cerebri was found in 19 out of 22 cases of deep venous thrombosis detailed in the literature...
  12. doi request reprint Dehydroepiandrosterone for myotonic dystrophy type 1
    I Penisson-Besnier
    Centre de référence Maladies Neuromusculaires Nantes Angers, Departement de Neurologie, Centre Hospitalier Universitaire d Angers, France
    Neurology 71:407-12. 2008
    ..Myotonic dystrophy type 1 may be associated with low circulating dehydroepiandrosterone (DHEA) levels. This study was aimed at investigating the efficacy and safety of DHEA in myotonic dystrophy type 1 patients...
  13. ncbi request reprint Nemaline bodies as unique pathological feature in the course of treated dermatomyositis
    F Letournel
    Département de Pathologie Cellulaire et Tissulaire, Centre Hospitalier Universitaire d Angers, Angers
    Clin Neuropathol 29:357-60. 2010
    ..Since her symptoms were discordant with the rest of the data, muscle biopsy was performed and disclosed rod-bearing non-atrophic fibers as the unique and predominant pathological feature. Their significance is examined in this paper...