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51

A functional variant of the dopamine D3 receptor is associated with risk and age-at-onset of essential tremor

Jeanneteau, F., Funalot, B., Jankovic, J., Deng, H., Lagarde, J.-P., Lucotte, G., Sokoloff, P.

Journal:

Proceedings of the National Academy of Sciences

Year:

2006

Language:

english

File:

PDF, 772 KB

english, 2006

52

Characterization of Endoneurial Fibroblast-like Cells from Human and Rat Peripheral Nerves

Richard, L., Vedrenne, N., Vallat, J.-M., Funalot, B.

Journal:

Journal of Histochemistry & Cytochemistry

Year:

2014

Language:

english

File:

PDF, 1.13 MB

english, 2014

53

Brainstem involvement in Leber's hereditary optic neuropathy: association with the 14,484 mitochondrial DNA mutation.

Funalot, B, Ranoux, D, Mas, J L, Garcia, C, Bonnefont, J P

Journal:

Journal of Neurology Neurosurgery & Psychiatry

Year:

1996

Language:

english

File:

PDF, 834 KB

english, 1996

54

CNS/PNS Boundary Transgression by Central Glia in the Absence of Schwann Cells or Krox20/Egr2 Function

Coulpier, F., Decker, L., Funalot, B., Vallat, J. M., Garcia-Bragado, F., Charnay, P., Topilko, P.

Journal:

Journal of Neuroscience

Year:

2010

Language:

english

File:

PDF, 5.87 MB

english, 2010

55

Insulin-Like Growth Factor I, Insulin-like Growth factor Binding Protein 3, and Atrial Fibrillation in the Elderly

Duron, E., Vidal, J.-S., Funalot, B., Brunel, N., Viollet, C., Seux, M.-L., Treluyer, J.-M., Epelbaum, J., Bouc, Y. L., Hanon, O.

Journal:

The Journals of Gerontology Series A Biological Sciences and Medical Sciences

Year:

2014

Language:

english

File:

PDF, 467 KB

english, 2014

56

Insulin-Like Growth Factor-I, Insulin-Like Growth factor Binding Protein-3 and Blood Hemoglobin Concentration in an Elderly Population

Duron, E., Vidal, J.-S., Funalot, B., Brunel, N., Viollet, C., Rigaud, A.-S., Labouree, F., Epelbaum, J., le Bouc, Y., Hanon, O.

Journal:

The Journals of Gerontology Series A Biological Sciences and Medical Sciences

Year:

2015

Language:

english

File:

PDF, 700 KB

english, 2015

57

Multiplex Detection and Genotyping of Point Mutations Involved in Charcot-Marie-Tooth Disease Using a Hairpin Microarray-Based Assay

Baaj, Yasser, Magdelaine, Corinne, Ubertelli, Virginie, Valat, Christophe, Mousseau, Yoanne, Qiu, Hao, Funalot, Benoît, Vallat, Jean-Michel, Sturtz, Franck G.

Journal:

Research Letters in Biochemistry

Year:

2009

Language:

english

File:

PDF, 497 KB

english, 2009

58

Genotype-Phenotype Correlations in Charcot-Marie-Tooth Disease Type 2 Caused by Mitofusin 2 Mutations

Calvo, Judith, Funalot, Benoît, Ouvrier, Robert A., Lazaro, Leila, Toutain, Annick, De Mas, Philippe, Bouche, Pierre, Gilbert-Dussardier, Brigitte, Arne-Bes, Marie-Christine, Carrière, Jean-Pierre, Jo

Journal:

Archives of Neurology

Year:

2009

Language:

english

File:

PDF, 282 KB

english, 2009

59

Les syndromes d’Ehlers-Danlos vus en rhumatologie. Des difficultés du diagnostic à ceux de la prise en charge

Challal, Salima, Minichiello, Emeline, Funalot, Benoit, Boissier, Marie-Christophe

Journal:

Revue du Rhumatisme

Year:

2015

Language:

french

File:

PDF, 292 KB

french, 2015

60

FLNA genomic rearrangements cause periventricular nodular heterotopia

Clapham, K. R., Yu, T. W., Ganesh, V. S., Barry, B., Chan, Y., Mei, D., Parrini, E., Funalot, B., Dupuis, L., Nezarati, M. M., du Souich, C., van Karnebeek, C., Guerrini, R., Walsh, C. A.

Journal:

Year:

2012

Language:

english

File:

PDF, 999 KB

english, 2012

61

Two novel mutations of the calcium-sensing receptor gene affecting the same amino acid position lead to opposite phenotypes and reveal the importance of p.N802 on receptor activity

Lia-Baldini, A.-S., Magdelaine, C., Nizou, A., Airault, C., Salles, J.-P., Moulin, P., Delemer, B., Aitouares, M., Funalot, B., Sturtz, F., Lienhardt-Roussie, A.

Journal:

European Journal of Endocrinology

Year:

2013

Language:

english

File:

PDF, 365 KB

english, 2013

62

How can grafted breast cancer models be optimized?

Mollard, Séverine, Mousseau, Yoanne, Baaj, Yasser, Richard, Laurence, Cook-Moreau, Jeanne, Monteil, Jacques, Funalot, Benoît, Sturtz, Franck G.

Journal:

Cancer Biology & Therapy

Year:

2011

Language:

english

File:

PDF, 2.04 MB

english, 2011

63

Recessive and Dominant De Novo ITPR1 Mutations Cause Gillespie Syndrome

Gerber, Sylvie, Alzayady, Kamil J., Burglen, Lydie, Brémond-Gignac, Dominique, Marchesin, Valentina, Roche, Olivier, Rio, Marlène, Funalot, Benoit, Calmon, Raphaël, Durr, Alexandra, Gil-da-Silva-Lopes

Journal:

The American Journal of Human Genetics

Year:

2016

Language:

english

File:

PDF, 1.32 MB

english, 2016

64

Genes encoding endothelin-converting enzyme-1 and endothelin-1 interact to influence blood pressure in women

Funalot, Benoît, Courbon, Dominique, Brousseau, Thierry, Poirier, Odette, Berr, Claudine, Cambien, François, Amouyel, Philippe, Schwartz, Jean-Charles, Ducimetière, Pierre

Journal:

Journal of Hypertension

Year:

2004

Language:

english

File:

PDF, 88 KB

english, 2004

65

A New Rapid Method for Sorting Endothelial and Neural Progenitors from Human Induced Pluripotent Stem Cells by Sedimentation Field Flow Fractionation.

Faye, Pierre Antoine, Vedrenne, Nicolas, de la Cruz Morcillo, Miguel Angel, Barrot, Claire Cécile, Richard, Laurence, Bourthoumieu, Sylvie, Sturtz, Franck, Funalot, Benoit, Lia, Anne-Sophie, Battu, Se

Journal:

Analytical Chemistry

Year:

2016

Language:

english

File:

PDF, 907 KB

english, 2016

66

Endoneurial Fibroblast-Like Cells

Richard, Laurence, Topilko, Piotr, Magy, Laurent, Decouvelaere, Anne-Valérie, Charnay, Patrick, Funalot, Benoît, Vallat, Jean-Michel

Journal:

Journal of Neuropathology and Experimental Neurology

Year:

2012

Language:

english

File:

PDF, 1.57 MB

english, 2012

67

Mutations in Complex I Assembly Factor TMEM126B Result in Muscle Weakness and Isolated Complex I Deficiency

Sánchez-Caballero, Laura, Ruzzenente, Benedetta, Bianchi, Lucas, Assouline, Zahra, Barcia, Giulia, Metodiev, Metodi D., Rio, Marlène, Funalot, Benoît, van den Brand, Mariël A.M., Guerrero-Castillo, Se

Journal:

The American Journal of Human Genetics

Year:

2016

Language:

english

File:

PDF, 1.85 MB

english, 2016

68

Les amyloses cardiaques : les reconnaître et les prendre en charge

Bodez, Diane, Galat, Arnault, Guellich, Aziz, Deux, Jean-François, Rosso, Jean, Le Bras, Fabien, Funalot, Benoît, Fanen, Pascale, Benhaiem, Nicole, Planté-Bordeneuve, Violaine, Dubois-Randé, Jean-Luc,

Journal:

La Presse Médicale

Year:

2016

Language:

french

File:

PDF, 1.09 MB

french, 2016

69

Complex I assembly factor TMEM126B mutations result in muscle weakness and isolated complex I deficiency

Sánchez-Caballero, Laura, Ruzzenente, Benedetta, Bianchi, Lucas, Assouline, Zahra, Metodiev, Metodi D., Rio, Marlène, Funalot, Benoît, van den Brand M, Mariël A.M., Guerrero–Castillo, Sergio, Molenaar

Journal:

Biochimica et Biophysica Acta (BBA) - Bioenergetics

Year:

2016

Language:

english

File:

PDF, 74 KB

english, 2016

70

Low Serum Insulin-Like Growth Factor-I Predicts Cognitive Decline in Alzheimer’s Disease

Vidal, Jean-Sébastien, Hanon, Olivier, Funalot, Benoît, Brunel, Nadège, Viollet, Cécile, Rigaud, Anne-Sophie, Seux, Marie-Laure, le-Bouc, Yves, Epelbaum, Jacques, Duron, Emmanuelle

Journal:

Journal of Alzheimer's Disease

Year:

2016

Language:

english

File:

PDF, 93 KB

english, 2016

71

Refine penetrance estimates in the main pathogenic variants of transthyretin hereditary (familial) amyloid polyneuropathy (TTR-FAP) using a new non-parametric approach (NPSE)

Gorram, Farida, Alarcon, Flora, Perdry, Hervé, Hébrard, Bérénice, Damy, Thibaud, Fanen, Pascale, Funalot, Benoît, Nuel, Gregory, Planté-Bordeneuve, Violaine

Journal:

Year:

2017

Language:

english

File:

PDF, 464 KB

english, 2017

72

High predictive value of brain MRI imaging in primary mitochondrial respiratory chain deficiency

de Beaurepaire, Isaure, Grévent, David, Rio, Marlène, Desguerre, Isabelle, de Lonlay, Pascale, Levy, Raphaël, Dangouloff-Ros, Volodia, Bonnefont, Jean-Paul, Barcia, Giulia, Funalot, Benoit, Besmond, C

Journal:

Journal of Medical Genetics

Year:

2018

Language:

english

File:

PDF, 559 KB

english, 2018

73

Pitfalls in molecular diagnosis of Friedreich ataxia

Barcia, Giulia, Rachid, Myriam, Magen, Maryse, Assouline, Zahra, Koenig, Michel, Funalot, Benoit, Barnerias, Christine, Rötig, Agnès, Munnich, Arnold, Bonnefont, Jean-Paul, Steffann, Julie

Journal:

European Journal of Medical Genetics

Year:

2018

Language:

english

File:

PDF, 1.63 MB

english, 2018

74

Neuroprotective Effect of Erythropoietin against Pressure Ulcer in a Mouse Model of Small Fiber Neuropathy

Danigo, Aurore, Magy, Laurent, Richard, Laurence, Desmoulière, Alexis, Bourthoumieu, Sylvie, Funalot, Benoît, Demiot, Claire, Eugenin, Eliseo A.

Journal:

Year:

2014

Language:

english

File:

PDF, 2.39 MB

english, 2014

75

La maladie de Charcot-Marie-Tooth

Vallat, Jean-Michel, Funalot, Benoît

Journal:

médecine/sciences

Year:

2010

Language:

french

File:

PDF, 969 KB

french, 2010

76

A highly specific microarray method for point mutation detection

Baaj, Yasser, Magdelaine, Corinne, Ubertelli, Virginie, Valat, Christophe, Talini, Luc, Soussaline, Françoise, Khomyakova, Elena, Funalot, Benoît, Vallat, Jean-Michel, Sturtz, Franck G.

Journal:

Year:

2008

Language:

english

File:

PDF, 513 KB

english, 2008

77

Metabo-lipidomics of Fibroblasts and Mitochondrial-Endoplasmic Reticulum Extracts from ALS Patients Shows Alterations in Purine, Pyrimidine, Energetic, and Phospholipid Metabolisms

Veyrat-Durebex, Charlotte, Bris, Céline, Codron, Philippe, Bocca, Cinzia, Chupin, Stéphanie, Corcia, Philippe, Vourc’h, Patrick, Hergesheimer, Rudolf, Cassereau, Julien, Funalot, Benoit, Andres, Chris

Journal:

Molecular Neurobiology

Year:

2019

File:

PDF, 1.31 MB

2019

78

Single or combined cardiac transplantation for Cardiac Amyloidosis. A report from the French National Referral Center for Cardiac Amyloidosis

Guendouz, S., Bodez, D., Galat, A., Kharoubi, M., Lebras, F., Belhadj, K., Funalot, B., Couetil, J.P., Dubois Randé, J.L., Mongardon, N., Azoulay, D., Duvoux, C., Salomon, L., Audart, V., Plante-Borde

Journal:

Archives of Cardiovascular Diseases Supplements

Year:

2019

Language:

english

File:

PDF, 219 KB

english, 2019

79

Central nervous system complications in adult cystinosis patients

Servais, A, Saitovitch, A, Hummel, A, Boisgontier, J, Scemla, A, Sberro‐Soussan, R, Snanoudj, R, Lemaitre, H, Legendre, Ch, Pontoizeau, C, Antignac, C, Anglicheau, D, Funalot, B, Boddaert, N

Journal:

Journal of Inherited Metabolic Disease

Year:

2019

Language:

english

File:

PDF, 1.38 MB

english, 2019

80

Interstitial lung disease reveals 48,XXYY syndrome in a child

Gros, Marion, Aissat, Abdel, Stephanie, Perez‐Martin, Taam Rola, Abou, Funalot, Benoit, Fanen, Pascale, Epaud, Ralph, Becdelievre, Alix

Journal:

Acta Paediatrica

Year:

2019

Language:

english

File:

PDF, 4.83 MB

english, 2019

81

Interstitial lung disease reveals 48,XXYY syndrome in a child

Gros, Marion, Aissat, Abdel, Stephanie, Perez‐Martin, Taam Rola, Abou, Funalot, Benoit, Fanen, Pascale, Epaud, Ralph, Becdelievre, Alix

Journal:

Acta Paediatrica

Year:

2019

File:

PDF, 4.83 MB

2019

82

Variants génétiques du récepteur des androgènes et phénotype de la neurofibromatose de type 1

Pecriaux, A., Ortonne, N., Bhouri, R., Ferkal, S., Sbidian, E., Duong, T.-A., Moreno, J.-C., Bosc, R., Hermeziu, O., Barau, C., Wolkenstein, P., Funalot, B.

Journal:

Annales de Dermatologie et de Vénéréologie

Year:

2018

Language:

french

File:

PDF, 294 KB

french, 2018

83

Le syndrome 48, XXYY : une nouvelle étiologie génétique d’hyperplasie neuroendocrine du nourrisson

Gros, M., Aissat, A., Perez-Martin, S., Funalot, B., Fanen, P., Epaud, R., De Becdelievre, A.

Journal:

Revue des Maladies Respiratoires

Year:

2019

Language:

french

File:

PDF, 224 KB

french, 2019

84

Variants génétiques du récepteur des androgènes et phénotype de la neurofibromatose de type 1

Pecriaux, A., Ortonne, N., Bhouri, R., Ferkal, S., Sbidian, E., Duong, T.-A., Moreno, J.-C., Bosc, R., Hermeziu, O., Barau, C., Wolkenstein, P., Funalot, B.

Journal:

Annales de Dermatologie et de Vénéréologie

Year:

2018

File:

PDF, 294 KB

2018

85

Stratégies du diagnostic moléculaire dans la neurofibromatose type 1

Bhouri, R., Hebrard, B., Wolkenstein, P., Funalot, B.

Journal:

Annales de Dermatologie et de Vénéréologie

Year:

2019

File:

PDF, 953 KB

2019

86

Diagnostic prénatal et diagnostic préimplantatoire dans la NF1 : audit de pratique de 2008 à 2018

Jannic, A., Hebrard, B., Vidaud, D., Sbidian, E., Hotz, C., Ferkal, S., Bhouri, R., Funalot, B., Wolkenstein, P.

Journal:

Annales de Dermatologie et de Vénéréologie

Year:

2019

File:

PDF, 182 KB

2019

87

Optimized Protocol to Generate Spinal Motor Neuron Cells from Induced Pluripotent Stem Cells from Charcot Marie Tooth Patients

Faye, Pierre-Antoine, Vedrenne, Nicolas, Miressi, Federica, Rassat, Marion, Romanenko, Sergii, Richard, Laurence, Bourthoumieu, Sylvie, Funalot, BenoÃ®t, Sturtz, Franck, Favreau, Frederic, Lia, Anne-S

Journal:

Year:

2020

File:

PDF, 4.45 MB

2020

88

Natural history and impact of treatment with tafamidis on major cardiovascular outcomeâfree survival time in a cohort of patients with transthyretin amyloidosis

BÃ©zard, MÃ©lanie, Kharoubi, Mounira, Galat, Arnault, Poullot, Elsa, Guendouz, Soulef, Fanen, Pascale, Funalot, Benoit, Moktefi, Anissa, Lefaucheur, JeanâPascal, Abulizi, Mukedaisi, Deux, JeanâFra

Journal:

European Journal of Heart Failure

Year:

2020

File:

PDF, 2.03 MB

2020

89

Ãge de survenue du cancer du sein au cours de la neurofibromatose 1Â : consÃ©quences pour le suivi

Caumette, V., Combemale, P., Frank, S., Zehou, O., Jannic, A., Funalot, B., Wolkenstein, P.

Journal:

Annales de Dermatologie et de Vénéréologie

Year:

2020

File:

PDF, 330 KB

2020

90

IntÃ©rÃªt de la TEP-IRM corps entier au FDG dans le diagnostic de schwannomatose

Gallais SÃ©rÃ©zal, I., Ferkal, S., Lerman, L., MulÃ©, S., Funalot, B., Wolkenstein, P.

Journal:

Annales de Dermatologie et de Vénéréologie

Year:

2020

File:

PDF, 1.38 MB

2020

91

Revue des causes de dÃ©cÃ¨s au cours de la neurofibromatose de type 1Â : suivi dâune cohorte de 1488Â patients

Lunati, A., Ferkal, S., Hemery, F., Jannic, A., Bellaiche, S., Armand, M.-L., Ezzedine, K., Funalot, B., Wolkenstein, P.

Journal:

Annales de Dermatologie et de Vénéréologie

Year:

2020

File:

PDF, 3.22 MB

2020

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