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1

Distal myopathies

Pénisson-Besnier, I.

Journal:

Revue Neurologique

Year:

2013

Language:

english

File:

PDF, 2.45 MB

english, 2013

2

Compound heterozygous mutations of the TNXB gene cause primary myopathy

Pénisson-Besnier, Isabelle, Allamand, Valérie, Beurrier, Philippe, Martin, Ludovic, Schalkwijk, Joost, van Vlijmen-Willems, Ivonne, Gartioux, Corine, Malfait, Fransiska, Syx, Delfien, Macchi, Laurent,

Journal:

Neuromuscular Disorders

Year:

2013

Language:

english

File:

PDF, 2.14 MB

english, 2013

3

Pseudometabolic expression and phenotypic variability of calpain deficiency in two siblings

Isabelle Pénisson-Besnier, Isabelle Richard, Frédéric Dubas, Jacques S. Beckmann, Michel Fardeau

Journal:

Year:

1998

Language:

english

File:

PDF, 168 KB

english, 1998

4

Dystrophie myotonique de type 2

I. Pénisson-Besnier

Journal:

EMC - Neurologie

Year:

2005

Language:

french

File:

PDF, 323 KB

french, 2005

5

Erratum to ‘Clinical outcome in 19 French and Spanish patients with valosin-containing protein myopathy associated with Paget’s disease of bone and frontotemporal dementia’ [Neuromuscular Disorders 19 (2009) 316–323]

Tanya Stojkovic, El Hadi Hammouda, Pascale Richard, Adolfo López de Munain, Javier Ruiz-Martinez, Pilar Camaño, Pascal Laforêt, Isabelle Pénisson-Besnier, Xavier Ferrer, Arnaud Lacour, Lucette Lacombl

Journal:

Neuromuscular Disorders

Year:

2011

Language:

english

File:

PDF, 64 KB

english, 2011

6

Clinical and molecular genetic spectrum of autosomal dominant Emery-Dreifuss muscular dystrophy due to mutations of the lamin A/C gene

G. Bonne, E. Mercuri, A. Muchir, A. Urtizberea, H. M. Bécane, D. Recan, L. Merlini, M. Wehnert, R. Boor, U. Reuner, M. Vorgerd, E. M. Wicklein, B. Eymard, D. Duboc, I. Penisson-Besnier, J. M. Cuisset,

Journal:

Annals of Neurology

Year:

2000

Language:

english

File:

PDF, 1.61 MB

english, 2000

7

Immunohistochemical and virological features of HTLV-1-associated myosites: a study of 13 patients from West Indies and Africa

Marion Desdouits, Olivier Cassar, Thierry Maisonobe, Alexandra Desrames, Achille Aouba, Olivier Hermine, Jacqueline Mikol, Marc Polivka, Isabelle Penisson-Besnier, Pascale Marcorelles, Fabien Zagnoli,

Journal:

Year:

2011

Language:

english

File:

PDF, 128 KB

english, 2011

8

Transcriptional explorations of CAPN3 identify novel splicing mutations, a large-sized genomic deletion and evidence for messenger RNA decay

M Krahn, C Pécheux, F Chapon, C Béroud, V Drouin-Garraud, P Laforet, NB Romero, I Penisson-Besnier, R Bernard, JA Urtizberea, F Leturcq, N Lévy

Journal:

Clinical Genetics

Year:

2007

Language:

english

File:

PDF, 600 KB

english, 2007

9

Variable phenotype of del45-55 Becker patients correlated with nNOS mislocalization and RYR1 hypernitrosylation

Gentil, C., Leturcq, F., Ben Yaou, R., Kaplan, J.-C., Laforet, P., Penisson-Besnier, I., Espil-Taris, C., Voit, T., Garcia, L., Pietri-Rouxel, F.

Journal:

Human Molecular Genetics

Year:

2012

Language:

english

File:

PDF, 829 KB

english, 2012

10

P1.14 Overt myopathy in Ehlers–Danlos syndrome caused by tenascin-X deficiency: extending the clinical spectrum and refining the muscle pathology

I. Pénisson-Besnier, V. Allamand, P. Beurrier, L. Martin, L. Macchi, D. Bonneau, P. Marcorelles, B. Arbeille, A. Croué, J. Schalkwijk, O.M. Vanakker, F. Dubas

Journal:

Neuromuscular Disorders

Year:

2010

Language:

english

File:

PDF, 39 KB

english, 2010

11

Clinical, histological and genetic characterisation of patients with tubular aggregate myopathy caused by mutations in STIM1

Bohm, J., Chevessier, F., Koch, C., Peche, G. A., Mora, M., Morandi, L., Pasanisi, B., Moroni, I., Tasca, G., Fattori, F., Ricci, E., Penisson-Besnier, I., Nadaj-Pakleza, A., Fardeau, M., Joshi, P. R.

Journal:

Journal of Medical Genetics

Year:

2014

Language:

english

File:

PDF, 30.65 MB

english, 2014

12

Carotid artery dissection in an adult with the Simpson–Golabi–Behmel syndrome

Isabelle Pénisson-Besnier, Thibaud Lebouvier, Marie-Pierre Moizard, Marc Ferré, Magalie Barth, Guillaume Marc, Martine Raynaud, Dominique Bonneau

Journal:

American Journal of Medical Genetics Part A

Year:

2008

Language:

english

File:

PDF, 221 KB

english, 2008

13

Diagnostic assessment and long-term follow-up of 13 patients with Very Long-Chain Acyl-Coenzyme A dehydrogenase (VLCAD) deficiency

Pascal Laforêt, Cécile Acquaviva-Bourdain, Odile Rigal, Michèle Brivet, Isabelle Penisson-Besnier, Brigitte Chabrol, Denys Chaigne, Odile Boespflug-Tanguy, Cécile Laroche, Anne-Laure Bedat-Millet, Ant

Journal:

Neuromuscular Disorders

Year:

2009

Language:

english

File:

PDF, 277 KB

english, 2009

14

Toxocarose cérébrale : un cas original de survie parasitaire

V. Gilquin, I. Pénisson-Besnier, L. De Gentile, P. Alquier, F. Dubas, D. Chabasse

Journal:

La Revue de Médecine Interne

Year:

2000

File:

PDF, 77 KB

2000

15

HTLV-1-associated inflammatory myopathies: Low proviral load and moderate inflammation in 13 patients from West Indies and West Africa

Desdouits, Marion, Cassar, Olivier, Maisonobe, Thierry, Desrames, Alexandra, Aouba, Achille, Hermine, Olivier, Mikol, Jacqueline, Polivka, Marc, Penisson-Besnier, Isabelle, Marcorelles, Pascale, Zagno

Journal:

Journal of Clinical Virology

Year:

2013

Language:

english

File:

PDF, 1.05 MB

english, 2013

16

I - 2 Manifestations musculaires du déficit en Acyl CoA déshydrogénase à très longue chaîne (VLCAD)

Laforêt, P., Acquaviva-Bourdain, C., Rigal, O., Brivet, M., Penisson-Besnier, I., Chaigne, D., Boespflug-Tanguy, O., Bedat-Millet, A.-L., Chabrol, B., Laroche, C.

Journal:

Revue Neurologique

Year:

2007

Language:

french

File:

PDF, 64 KB

french, 2007

17

Myotilinopathy in a family with late onset myopathy

Isabelle Pénisson-Besnier, Kati Talvinen, Catherine Dumez, Anna Vihola, Frédéric Dubas, Michel Fardeau, Peter Hackman, Olli Carpen, Bjarne Udd

Journal:

Neuromuscular Disorders

Year:

2006

Language:

english

File:

PDF, 447 KB

english, 2006

18

G.P.8 04 TPM3 (Arg167His) autosomal dominant nemaline myopathy: variable clinical and histopathological phenotypes

I. Pénisson-Besnier, N. Monnier, A. Toutain, P. Corcia, N. Laing

Journal:

Neuromuscular Disorders

Year:

2006

Language:

english

File:

PDF, 57 KB

english, 2006

19

Diagnosis of myotubular myopathy in the oldest known manifesting female carrier: A clinical and genetic study

Isabelle Pénisson-Besnier, Valérie Biancalana, Pascal Reynier, Mireille Cossée, Frédéric Dubas

Journal:

Neuromuscular Disorders

Year:

2007

Language:

english

File:

PDF, 709 KB

english, 2007

20

P.P.5 08 A novel MTM1 mutation in a very old manifesting carrier of myotubular myopathy

I. Pénisson-Besnier, V. Biancalana, P. Reynier, F. Dubas

Journal:

Neuromuscular Disorders

Year:

2006

Language:

english

File:

PDF, 55 KB

english, 2006

21

Myopathy caused by anoctamin 5 mutations and necrotizing vasculitis

Pénisson-Besnier, Isabelle, Saint-André, Jean-Paul, Hicks, Debbie, Sarkozy, Anna, Croué, Anne, Hudson, Judith, Lochmüller, Hanns, Dubas, Frédéric

Journal:

Journal of Neurology

Year:

2012

Language:

english

File:

PDF, 367 KB

english, 2012

22

La dystrophie musculaire des ceintures autosomique dominante associée à des troubles de la conduction cardiaque (LGMD1B). Description de 8 nouvelles familles avec mutations du gène LMNA

Ben Yaou, R., Bécane, H.-M., Demay, L., Laforet, P., Hannequin, D., Bohu, P.-A., Drouin-Garraud, V., Ferrer, X., Mussini, J.-M., Ollagnon, E., Petiot, P., Penisson-Besnier, I., Streichenberger, N., To

Journal:

Revue Neurologique

Year:

2005

File:

PDF, 320 KB

2005

23

The French Pompe registry. Baseline characteristics of a cohort of 126 patients with adult Pompe disease

Laforêt, P., Laloui, K., Granger, B., Hamroun, D., Taouagh, N., Hogrel, J.-Y., Orlikowski, D., Bouhour, F., Lacour, A., Salort-Campana, E., Penisson-Besnier, I., Sacconi, S., Zagnoli, F., Chapon, F.,

Journal:

Revue Neurologique

Year:

2013

File:

PDF, 944 KB

2013

24

Intramedullary epidermoid cyst evaluated by computed tomographic scan and magnetic resonance imaging

Penisson-Besnier, I, Guy, G, Gandon, Y

Journal:

Year:

1989

File:

PDF, 3.02 MB

1989

25

Current French Pompe Prevalence Study (French PoPS)

S. Sacconi, M. Piraud, A. Echaniz-Laguna, C. Tranchant, C. Boutte, A. Nadaj, I. Penisson-Besnier, F. Bouhour, H. Gervais, P. Petiot, V. Manel, J. Gallard, E. Salort-Campana, G. Solé, M. Pages, B. Eche

Journal:

Clinical Therapeutics

Year:

2011

Language:

english

File:

PDF, 84 KB

english, 2011

26

G.P.17.02 New c-terminal titin mutations in Europeans with tibial muscular dystrophy (TMD)

P. Hackman, S. Marchand, I. Pénisson-Besnier, E. Hammouda, I. Illa, B. Eymard, J. Pardal-Fernandez, I. Richard, B. Udd

Journal:

Neuromuscular Disorders

Year:

2007

Language:

english

File:

PDF, 47 KB

english, 2007

27

Male infertility associated with multiple mitochondrial DNA rearrangements

Pascal Reynier, Marie-Françoise Chrétien, Isabelle Penisson-Besnier, Yves Malthièry, Vincent Rohmer, Patrick Lestienne

Journal:

Comptes Rendus de l'Académie des Sciences - Series III - Sciences de la Vie

Year:

1997

File:

PDF, 787 KB

1997

28

Extracranial and intracranial vertebrobasilar dissections: diagnosis and prognosis

de Bray, J M, Penisson-Besnier, I, Dubas, F, Emile, J

Journal:

Journal of Neurology Neurosurgery & Psychiatry

Year:

1997

Language:

english

File:

PDF, 218 KB

english, 1997

29

Disrupted myosin cross-bridge cycling kinetics triggers muscle weakness in nebulin-related myopathy

Ochala, J., Lehtokari, V.-L., Iwamoto, H., Li, M., Feng, H.-Z., Jin, J.-P., Yagi, N., Wallgren-Pettersson, C., Penisson-Besnier, I., Larsson, L.

Journal:

The FASEB Journal

Year:

2011

Language:

english

File:

PDF, 1.23 MB

english, 2011

30

Dehydroepiandrosterone for myotonic dystrophy type 1

Penisson-Besnier, I., Devillers, M., Porcher, R., Orlikowski, D., Doppler, V., Desnuelle, C., Ferrer, X., Bes, M. -C.A., Bouhour, F., Tranchant, C., Lagrange, E., Vershueren, A., Uzenot, D., Cintas, P

Journal:

Year:

2008

Language:

english

File:

PDF, 750 KB

english, 2008

31

Autosomal dominant late adult onset distal myopathy

I. Penisson-Besnier, C. Dumez, D. Chateau, F. Dubas, M. Fardeau

Journal:

Neuromuscular Disorders

Year:

1997

Language:

english

File:

PDF, 133 KB

english, 1997

32

Myopathies distales

Pénisson-Besnier, I.

Journal:

Revue Neurologique

Year:

2004

Language:

french

File:

PDF, 86 KB

french, 2004

33

Clinical outcome in 19 French and Spanish patients with valosin-containing protein myopathy associated with Paget’s disease of bone and frontotemporal dementia

Tanya Stojkovic, El Hadi Hammouda, Pascale Richard, Adolfo López de Munain, Javier Ruiz-Martinez, Pilar Camaño Gonzalez, Pascal Laforêt, Isabelle Pénisson-Besnier, Xavier Ferrer, Arnaud Lacour, Lucett

Journal:

Neuromuscular Disorders

Year:

2009

Language:

english

File:

PDF, 494 KB

english, 2009

34

Autosomal dominant late adult onset distal leg myopathy

Isabelle Pénisson-Besnier, Catherine Dumez, Danielle Chateau, Frédéric Dubas, Michel Fardeau

Journal:

Neuromuscular Disorders

Year:

1998

Language:

english

File:

PDF, 230 KB

english, 1998

35

Recurrent brain hematomas in MELAS associated with an ND5 gene mitochondrial mutation

Penisson-Besnier, I., Reynier, P., Asfar, P., Douay, O., Sortais, A., Dubas, F., Emile, J., Malthiery, Y.

Journal:

Year:

2000

Language:

english

File:

PDF, 342 KB

english, 2000

36

EM.P.4.02 Comprehensive clinical, cellular and molecular assessment of 64 French families with COL6-related muscle disorders: Clues for genotype/phenotype correlations

P. Richard, L. Briñas, S. Quijano-Roy, C. Ledeuil, A. Ferreiro, C. Gartioux, I. Pénisson-Besnier, A. Béhin, P. Laforet, M. Mayer, L. Viollet, P. Guicheney, B. Eymard, B. Estournet, T. Stojkovic, V. Al

Journal:

Neuromuscular Disorders

Year:

2009

Language:

english

File:

PDF, 52 KB

english, 2009

37

P.P.3 06 New c-terminal titin mutations in tibial muscular dystrophy

P. Hackman, S. Marchand, I. Pénisson-Besnier, E.-H. Hammouda, I. Illa, B. Eymard, J.M. Pardal-Fernandez, I. Richard, B. Udd

Journal:

Neuromuscular Disorders

Year:

2006

Language:

english

File:

PDF, 44 KB

english, 2006

38

Cerebral venous thrombosis after myelography with iopamidol

H. Brugeilles, I. Pénisson-Besnier, A. Pasco, P. Oillic, P. Lejeune…

Journal:

Year:

1996

Language:

english

File:

PDF, 722 KB

english, 1996

39

J - 15 Étude des troubles respiratoires chez 64 patients atteints de dystrophie myotonique de type 1

Hamon, M.-A., Meslier, N., Dubas, F., Pénisson-Besnier, I.

Journal:

Revue Neurologique

Year:

2007

Language:

french

File:

PDF, 58 KB

french, 2007

40

Congenital myopathy-causing tropomyosin mutations induce thin filament dysfunction via distinct physiological mechanisms

Ochala, J., Gokhin, D. S., Penisson-Besnier, I., Quijano-Roy, S., Monnier, N., Lunardi, J., Romero, N. B., Fowler, V. M.

Journal:

Human Molecular Genetics

Year:

2012

Language:

english

File:

PDF, 451 KB

english, 2012

41

Intramedullary Epidermoid Cyst Evaluated by Computed Tomographic Scan and Magnetic Resonance Imaging: Case Report

Penisson-Besnier, Isabelle, Guy, Gilles, Gandon, Yves

Journal:

Year:

1989

File:

PDF, 3.02 MB

1989

42

mtDNA haplogroup J: a contributing factor of optic neuritis

Reynier, Pascal, Penisson-Besnier, Isabelle, Moreau, Corinne, Savagner, Frédérique, Vielle, Bruno, Emile, Jean, Dubas, Frédéric, Malthièry, Yves

Journal:

European Journal of Human Genetics

Year:

1999

Language:

english

File:

PDF, 63 KB

english, 1999

43

Uneven distribution of mitochondrial DNA mutation in MERRF dizygotic twins

I. Penisson-Besnier, F. Degoul, C. Desnuelle, F. Dubas, K. Josi, J. Emile, P. Lestienne

Journal:

Journal of the Neurological Sciences

Year:

1992

Language:

english

File:

PDF, 558 KB

english, 1992

44

Myopathies caused by homozygous titin mutations: limb-girdle muscular dystrophy 2J and variations of phenotype

Penisson-Besnier, I., Hackman, P., Suominen, T., Sarparanta, J., Huovinen, S., Richard-Cremieux, I., Udd, B.

Journal:

Journal of Neurology Neurosurgery & Psychiatry

Year:

2010

Language:

english

File:

PDF, 78 KB

english, 2010

45

Detection of TRIM32 deletions in LGMD patients analyzed by a combined strategy of CGH array and massively parallel sequencing

Nectoux, Juliette, de Cid, Rafael, Baulande, Sylvain, Leturcq, France, Urtizberea, Jon Andoni, Penisson-Besnier, Isabelle, Nadaj-Pakleza, Aleksandra, Roudaut, Carinne, Criqui, Audrey, Orhant, Lucie, P

Journal:

European Journal of Human Genetics

Year:

2015

Language:

english

File:

PDF, 884 KB

english, 2015

46

Ocular motor deficits in oculopharyngeal muscular dystrophy

D. Gautier, I. Pénisson-Besnier, S. Rivaud-Péchoux, C. Rabaute, D. Milea

Journal:

European Journal of Neurology

Year:

2012

Language:

english

File:

PDF, 425 KB

english, 2012

47

P.5.16 Predominant right ventricular involvement in patients with laminopathies

Ben Yaou, R., Wahbi, K., Meune, C., Fressart, V., Feldman, L., Behin, A., Pénisson-Besnier, I., Urtizberea, J.A., Eymard, B., Richard, P., Bonne, G., Duboc, D.

Journal:

Neuromuscular Disorders

Year:

2013

Language:

english

File:

PDF, 60 KB

english, 2013

48

Anti-NGF Autoantibodies and NGF in Sera of Alzheimer Patients and in Normal Subjects in Relation to Age

Dlcou, Eleni, Vermersch, Patrick, Penisson-Besnier, Isabelle, Dubas, Frederic, Nerriere, Veronique

Journal:

Year:

1997

Language:

english

File:

PDF, 385 KB

english, 1997

49

Atteinte du nerf sensitif dans l'amyotrophie bulbo-spinale liee a l'X (syndrome de Kennedy). Apport des donnees electrophysiologiques et histologiques

Penisson-Besnier, I., Dubas, F., Delestre, F., Emile, J.

Journal:

Neurophysiologie Clinique/Clinical Neurophysiology

Year:

1989

File:

PDF, 1.48 MB

1989

50

Late-onset cervicoscapular muscle atrophy and weakness after radiotherapy for Hodgkin disease: a case series

Furby, A, Behin, A, Lefaucheur, J-P, Beauvais, K, Marcorelles, P, Mussini, J-M, Bassez, G, Creange, A, Eymard, B, Penisson-Besnier, I

Journal:

Journal of Neurology Neurosurgery & Psychiatry

Year:

2010

Language:

english

File:

PDF, 931 KB

english, 2010

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