Penisson-Besnier, I.: search on Z-Library

The world's largest scientific articles store. 70,000,000+ articles for free.

Don't use scam websites

1

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

2

Dystrophie myotonique de type 2

I. Pénisson-Besnier

Journal:

EMC - Neurologie

Year:

2005

Language:

french

File:

PDF, 323 KB

french, 2005

3

Distal myopathies

Pénisson-Besnier, I.

Journal:

Revue Neurologique

Year:

2013

Language:

english

File:

PDF, 2.45 MB

english, 2013

4

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

5

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

6

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

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

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

10

A sensitive assay for measuring SMN mRNA levels in peripheral blood and in muscle samples of patients affected with spinal muscular atrophy

Vezain, Myriam, Saugier-Veber, Pascale, Melki, Judith, Toutain, Annick, Bieth, Eric, Husson, Marie, Pedespan, Jean-Michel, Viollet, Louis, Pénisson-Besnier, Isabelle, Fehrenbach, Séverine

Journal:

European Journal of Human Genetics

Year:

2007

Language:

english

File:

PDF, 255 KB

english, 2007

11

A myopathy-related actin mutation increases contractile function

Johan Lindqvist, Isabelle Pénisson-Besnier, Hiroyuki Iwamoto, Meishan Li, Naoto Yagi, Julien Ochala

Journal:

Acta Neuropathologica

Year:

2012

Language:

english

File:

PDF, 650 KB

english, 2012

12

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

13

Results of Prolonged Follow-Up of Late-Onset Pompe Disease Treated with Alglucosidase Alfa (Myozyme®)

P. Laforêt, C. Payan, K. Laloui, J.-Y. Hogrel, C. Wary, R. Carlier, N. Pellegrini, A.-L. Bedat-Millet, I. Durieu, A. Furby, I. Penisson-Besnier, J. Praline, D. Orlikowski, N. Guffon-Fouilhoux, A. Levy

Journal:

Clinical Therapeutics

Year:

2011

Language:

english

File:

PDF, 86 KB

english, 2011

14

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

15

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

16

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

17

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

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

A second pedigree with autosomal dominant nemaline myopathy caused by TPM3 mutation: A clinical and pathological study

Isabelle Pénisson-Besnier, Nicole Monnier, Annick Toutain, Frédéric Dubas, Nigel Laing

Journal:

Neuromuscular Disorders

Year:

2007

Language:

english

File:

PDF, 1.52 MB

english, 2007

21

M.O.1 Muscular manifestations of very long-chain acyl-coenzyme A dehydrogenase deficiency: A clinical, and biochemical study in 12 patients

P. Laforêt, C. Acquaviva-Bourdain, O. Rigal, M. Brivet, I. Pénisson-Besnier, B. Chabrol, D. Chaigne, O. Boespflug-Tanguy, C. Laroche, A. Bedat-Millet, A. Lombès, B. Andresen, B. Eymard, C. Vianey-Saba

Journal:

Neuromuscular Disorders

Year:

2007

Language:

english

File:

PDF, 64 KB

english, 2007

22

M.P.2.13 The French Pompe registry: A prospective clinical survey of patients with late onset Pompe disease in France

C. Vincitorio, C. Payant, V. Doppler, D. Orlikowski, N. Pellegrini, S. Attarian, J. Pouget, T. Stojkovic, S. Sacconi, C. Desnuelle, F. Zagnoli, L. Feasson, P. Labauge, I. Pénisson-Besnier, M. Minot-My

Journal:

Neuromuscular Disorders

Year:

2007

Language:

english

File:

PDF, 62 KB

english, 2007

23

G.P.13.05 Valosin-containing protein gene mutations: Clinical and histopathologic features in a series of 16 patients

T. Stojkovic, E. Hammouda, P. Richard, A. Lopez de Munain, I. Pénisson-Besnier, X. Ferrer, A. Lacour, G. Bassez, L. Lacomblez, E. Lacene, B. Eymard

Journal:

Neuromuscular Disorders

Year:

2007

Language:

english

File:

PDF, 48 KB

english, 2007

24

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

25

Truncating mutations in C-terminal titin may cause more severe tibial muscular dystrophy (TMD)

Peter Hackman, Sylvie Marchand, Jaakko Sarparanta, Anna Vihola, Isabelle Pénisson-Besnier, Bruno Eymard, Jose Manuel Pardal-Fernández, El-Hadi Hammouda, Isabelle Richard, Isabel Illa, Bjarne Udd

Journal:

Neuromuscular Disorders

Year:

2008

Language:

english

File:

PDF, 364 KB

english, 2008

26

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

27

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

28

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

29

G.P.11.10 Partial genomic deletions of RAPSN account for 15% of congenital myasthenic syndrome after negative DNA sequencing

P. Richard, K. Gaudon, I. Pénisson-Besnier, B. Chabrol, F. Bouhour, C. Vial, A. Ben Ammar, S. Bauché, B. Eymard, D. Hantai

Journal:

Neuromuscular Disorders

Year:

2009

Language:

english

File:

PDF, 42 KB

english, 2009

30

P4.50 Results of prolonged follow-up of late-onset Pompe disease treated with alglucosidase alfa (Myozyme)

B. Eymard, C. Payan, K. Laloui, J.Y. Hogrel, C. Wary, R. Carlier, N. Pellegrini, A.L. Bedat-Millet, I. Durieu, A. Furby, I. Pénisson-Besnier, J. Praline, D. Orlikowski, N. Guffon-Fouilhoux, A. Levy, P

Journal:

Neuromuscular Disorders

Year:

2010

Language:

english

File:

PDF, 49 KB

english, 2010

31

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

32

Contraception and screening for cervical and breast cancer in neuromuscular disease: A retrospective study of 50 patients monitored at a clinical reference centre

S. Goutard, C. Baron, C. Bouton, I. Penisson-Besnier, G. Fossé, A.-C. Aube-Nathier, V. Havet-Thomassin, F. Dubas, I. Richard

Journal:

Annals of Physical and Rehabilitation Medicine

Year:

2009

Language:

english

File:

PDF, 242 KB

english, 2009

33

Syndrome lymphoprolifératif cutané lié à l’EBV au cours d’une dermatomyosite traitée par immunosuppresseurs

M. Steff, Y. Le Corre, I. Penisson-Besnier, S. Michalak, G. Drossard, B. Lebrun-Vignes, C. Le Clec’h

Journal:

La Revue de Médecine Interne

Year:

2009

Language:

french

File:

PDF, 592 KB

french, 2009

34

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

35

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

36

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

37

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

38

Cytopathie mitochondriale en réanimation À propos d'un cas

P. Choulet, P. Asfar, O. Brenet, I. Pénisson-Besnier, J.P Gouëllo, Y. Malthiery, P. Alquier

Journal:

Réanimation Urgences

Year:

1999

File:

PDF, 490 KB

1999

39

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

40

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

41

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

42

G.P.75 Variable phenotype of del45–55 Becker patients correlated to nNOSμ mislocalization and RYR1 hypernitrosylation

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

Journal:

Neuromuscular Disorders

Year:

2012

Language:

english

File:

PDF, 51 KB

english, 2012

43

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

44

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

45

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

46

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

47

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

48

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

49

Traitement de la myasthénie auto-immune

Pénisson-Besnier, I.

Journal:

Revue Neurologique

Year:

2010

File:

PDF, 193 KB

2010

50

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

To build up a library is to create a life. It’s never just a random collection of books.

— Carlos María Domínguez

Official channel

Z-Library Desktop Launcher

Z-Library Since 2009 support@z-lib.do

EnglishРусскийEspañolItalianoελληνικάاللغة العربيةBahasa IndonesiaBahasa Malaysiaहिन्दीDeutschFrançaisPortuguêsУкраїнськаPolski中文繁體中文日本語Tiếng ViệtAzərbaycan DiliՀայոց լեզուภาษาไทยTürk Diliქართველიবাংলাپښتوతెలుగుاردو한국어SrpskiБългарски