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2. Real-life evaluation of an algorithm for the diagnosis of cardiac amyloidosis

Author

Bézard, M., primary, Kharoubi, M., additional, Galat, A., additional, Le Bras, F., additional, Poullot, E., additional, Molinier-Frenkel, V., additional, Fanen, P., additional, Funalot, B., additional, Moktefi, A., additional, Abulizi, M., additional, Deux, J.-F., additional, Lemonnier, F., additional, Guendouz, S., additional, Chalard, C., additional, Zaroui, A., additional, Itti, E., additional, Hittinger, L., additional, Teiger, E., additional, Oghina, S., additional, and Damy, T., additional

Published
2023
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3. Homozygote and heterozygote transthyretin p.Val142Ile (V122I) genetic variant: Comparison of cardiac involvement, extracardiac manifestations and outcomes

Author

Albenque, G., primary, Bézard, M., additional, Kharoubi, M., additional, Odouard, S., additional, Lunati, A., additional, Poullot, E., additional, Zaroui, A., additional, Teiger, E., additional, Hittinger, L., additional, El Karoui, K., additional, Audard, V., additional, Funalot, B., additional, Fanen, P., additional, Damy, T., additional, and Oghina, S., additional

Published
2023
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5. Angiomes rubis, une lésion spécifique de neurofibromatose de type 1

Author

Fertitta, L., primary, Bergqvist, C., additional, Moryousef, S., additional, Ferkal, S., additional, Funalot, B., additional, Lunati-Rozie, A., additional, Barau, C., additional, Kaltenbach, S., additional, Villarese, P., additional, Pasmant, E., additional, Vidaud, D., additional, Ortonne, N., additional, and Wolkenstein, P., additional

Published
2022
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8. Prevalence and determinant of iron deficiency in the three main types of cardiac amyloidosis

Author

Jobbe-Duval, A., primary, Bézard, M., additional, Moutereau, S., additional, Kharoubi, M., additional, Oghina, S., additional, Zaroui, A., additional, Galat, A., additional, Chalard, C., additional, Hugon-Vallet, E., additional, Lemonnier, F., additional, Eyharts, D., additional, Poulot, E., additional, Fanen, P., additional, Funalot, B., additional, Molinier-Frenkel, V., additional, Audard, V., additional, Hittinger, L., additional, Delbarre, M., additional, Teiger, E., additional, and Damy, T., additional

Published
2022
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11. Refining the phenotypic & mutational spectrum in a multinational cohort of O'Donnell-Luria-Rodan Syndrome

Author

Velmans, C., O'Donnell-Luria, A., Argilli, E., Tran-Mau-Them, F., Vitobello, A., Rech, M., Abicht, A., Aubert-Mucca, M., Carmichael, J., Chassaing, N., Clark, R., Coubes, C., de Dios, K., Funalot, B., Joseph, M., Kenendy, C., van de Laar, I., Lehalle, D., Leppig, K., Lessmeier, L., Pais, L., Paterson, H., Ramanathan, S., Sherr, E., Netzer, C., Schaaf, C., Erger, F., Velmans, C., O'Donnell-Luria, A., Argilli, E., Tran-Mau-Them, F., Vitobello, A., Rech, M., Abicht, A., Aubert-Mucca, M., Carmichael, J., Chassaing, N., Clark, R., Coubes, C., de Dios, K., Funalot, B., Joseph, M., Kenendy, C., van de Laar, I., Lehalle, D., Leppig, K., Lessmeier, L., Pais, L., Paterson, H., Ramanathan, S., Sherr, E., Netzer, C., Schaaf, C., and Erger, F.

Published
2020

12. Natural history and impact of treatment with tafamidis on major cardiovascular outcome-free survival time in a cohort of patients with transthyretin amyloidosis

Author

Bézard, M., primary, Kharoubi, M., additional, Galat, A., additional, Poullot, E., additional, Guendouz, S., additional, Fanen, P., additional, Funalot, B., additional, Moktefi, A., additional, Lefaucheur, J.P., additional, Deux, J.-F., additional, Gendre, T., additional, Audard, V., additional, El Karoui, K., additional, Canoui-Poitrine, F., additional, Zaroui, A., additional, Itti, E., additional, Teiger, E., additional, Plante, V., additional, Oghina, S., additional, and Damy, T., additional

Published
2021
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13. Prevalence and type of first amyloid extracardiac symptoms and cardiac disorders history and time from their occurrence to diagnosis between Al and transthyretin cardiac amyloidosis

Author

Kharoubi, M., primary, Bézard, M., additional, Galat, A., additional, Le Bras, F., additional, Poullot, E., additional, Hittinger, L., additional, Moulinier Frenkel, V., additional, Fanen, P., additional, Funalot, B., additional, Moktefi, A., additional, Le Faucheur, J.P., additional, Mukedaisi, A., additional, Deux, J., additional, Gendre, T., additional, Audard, V., additional, Audureau, E., additional, Bequignon, E., additional, Plante, V., additional, Oghina, S., additional, and Damy, T., additional

Published
2021
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15. A common pattern of brain MRI imaging in mitochondrial diseases with complex I deficiency

Author

Lebre, A S, Rio, M, Faivre dʼArcier, L, Vernerey, D, Landrieu, P, Slama, A, Jardel, C, Laforêt, P, Rodriguez, D, Dorison, N, Galanaud, D, Chabrol, B, Paquis-Flucklinger, V, Grévent, D, Edvardson, S, Steffann, J, Funalot, B, Villeneuve, N, Valayannopoulos, V, de Lonlay, P, Desguerre, I, Brunelle, F, Bonnefont, J P, Rötig, A, Munnich, A, and Boddaert, N

Published
2011
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21. Mutation Update for the CSB/ERCC6 and CSA/ERCC8 Genes Involved in Cockayne Syndrome

Author

Laugel, V., Dalloz, C., Durand, M., Sauvanaud, F., Kristensen, U., Vincent, M. C., Pasquier, L., Odent, S., Cormier-Daire, V., Gener, B., Tobias, E. S., Tolmie, J. L., Martin-Coignard, D., Drouin-Garraud, V., Heron, D., Journel, H., Raffo, E., Vigneron, J., Lyonnet, S., Murday, V., Gubser-Mercati, D., Funalot, B., Brueton, L., del Pozo, Sanchez J., Muñoz, E., Gennery, A. R., Salih, M., Noruzinia, M., Prescott, K., Ramos, L., Stark, Z., Fieggen, K., Chabrol, B., Sarda, P., Edery, P., Bloch-Zupan, A., Fawcett, H., Pham, D., Egly, J. M., Lehmann, A. R., Sarasin, A., and Dollfus, H.

Published
2010
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28. Single or combined cardiac transplantation for Cardiac Amyloidosis. A report from the French National Referral Center for Cardiac Amyloidosis

Author

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

Published
2019
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29. [18F]FDG Positron emission tomography with whole body magnetic resonance imaging ([18F]FDG-PET/MRI) as a diagnosis tool in Schwannomatosis.

Author

Gallais Sérézal, I., Ferkal, S., Lerman, L., Mulé, S., Funalot, B., and Wolkenstein, P.

Subjects
MAGNETIC resonance imaging, DIAGNOSIS, SCHWANNOMAS
Abstract

Schwannomatosis is a rare autosomal dominant genetic syndrome characterized by the presence of multiple schwannomas. The main symptom is neurogenic pain. The diagnosis requires the presence of several schwannomas and whole-body [18F]FDG-PET/MRI might help detect extra schwannomas in patients when the diagnosis is uncertain. Among the 25 patients treated for Schwannomatosis in our tertiary center, three men and two women had had a [18F]FDG-PET/MRI performed, and the number of schwannomas detected by [18F]FDG-PET/MRI outnumbered the number of schwannomas suspected during the clinical examination. The majority of schwannomas exhibited a radiolabeling (median of 66.7%, range 28-93%). Our findings show that [18F]FDG-PET/MRI could prove useful when suspecting schwannomatosis to accelerate diagnosis and offer optimal care to patients. [ABSTRACT FROM AUTHOR]

Published
2021
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31. Hétérogénéité de l’atteinte respiratoire associée aux mutations de NK2 homeobox 1

Author

Nattes, E., primary, Lejeune, S., additional, Carsin, A., additional, Borie, R., additional, Gibertini, I., additional, Balinotti, J., additional, Nathan, N., additional, Marchand-Adam, S., additional, Thumerelle, C., additional, Fauroux, B., additional, Houdouin, V., additional, Delestrain, C., additional, Louha, M., additional, Couderc, R., additional, De Becdelievre, A., additional, Fanen, P., additional, Funalot, B., additional, Crestani, B., additional, Deschildre, A., additional, Dubus, J.-C., additional, and Epaud, R., additional

Published
2017
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32. Mutations in Complex I Assembly Factor TMEM126B Result in Muscle Weakness and Isolated Complex I Deficiency

Author

Sanchez-Caballero, L., Ruzzenente, B., Bianchi, L., Assouline, Z., Barcia, G., Metodiev, M.D., Rio, M. del, Funalot, B., Brand, M.A.M. van den, Guerrero-Castillo, S., Molenaar, J.P.F., Koolen, D.A., Brandt, U., Rodenburg, R.J.T., Nijtmans, L.G.J., Rotig, A., Sanchez-Caballero, L., Ruzzenente, B., Bianchi, L., Assouline, Z., Barcia, G., Metodiev, M.D., Rio, M. del, Funalot, B., Brand, M.A.M. van den, Guerrero-Castillo, S., Molenaar, J.P.F., Koolen, D.A., Brandt, U., Rodenburg, R.J.T., Nijtmans, L.G.J., and Rotig, A.

Abstract

Contains fulltext : 165717.pdf (publisher's version ) (Closed access), Mitochondrial complex I deficiency results in a plethora of often severe clinical phenotypes manifesting in early childhood. Here, we report on three complex-I-deficient adult subjects with relatively mild clinical symptoms, including isolated, progressive exercise-induced myalgia and exercise intolerance but with normal later development. Exome sequencing and targeted exome sequencing revealed compound-heterozygous mutations in TMEM126B, encoding a complex I assembly factor. Further biochemical analysis of subject fibroblasts revealed a severe complex I deficiency caused by defective assembly. Lentiviral complementation with the wild-type cDNA restored the complex I deficiency, demonstrating the pathogenic nature of these mutations. Further complexome analysis of one subject indicated that the complex I assembly defect occurred during assembly of its membrane module. Our results show that TMEM126B defects can lead to complex I deficiencies and, interestingly, that symptoms can occur only after exercise.

Published
2016

33. An exploratory randomised double-blind and placebo-controlled phase 2 study of a combination of baclofen, naltrexone and sorbitol (PXT3003) in patients with Charcot-Marie-Tooth disease type 1A (vol 9, 199, 2014)

Author

Attarian, S, Vallat, J-M, Magy, L, Funalot, B, Gonnaud, P-M, Lacour, A, Pereon, Y, Dubourg, O, Pouget, J, Micallef, J, Franques, J, Lefebvre, M-N, Ghorab, K, Al-Moussawi, M, Tiffreau, V, Preudhomme, M, Magot, A, Leclair-Visonneau, L, Stojkovic, T, Bossi, L, Lehert, P, Gilbert, W, Bertrand, V, Mandel, J, Milet, A, Hajj, R, Boudiaf, L, Scart-Gres, C, Nabirotchkin, S, Guedj, M, Chumakov, I, Cohen, D, Attarian, S, Vallat, J-M, Magy, L, Funalot, B, Gonnaud, P-M, Lacour, A, Pereon, Y, Dubourg, O, Pouget, J, Micallef, J, Franques, J, Lefebvre, M-N, Ghorab, K, Al-Moussawi, M, Tiffreau, V, Preudhomme, M, Magot, A, Leclair-Visonneau, L, Stojkovic, T, Bossi, L, Lehert, P, Gilbert, W, Bertrand, V, Mandel, J, Milet, A, Hajj, R, Boudiaf, L, Scart-Gres, C, Nabirotchkin, S, Guedj, M, Chumakov, I, and Cohen, D

Published
2016

34. Mutation update for the CSB/ERCC6 and CSA/ERCC8 genes involved in the Cockayne syndrome

Author

Laugel V, Dalloz C, Durand M, Sauvanaud F, Kristensen U, Vincent MC, Pasquier L, Odent S, Cormier-Daire V, Gener B, Tobias ES, Tolmie JL, Martin-Coignard D, Drouin-Garraud V, Heron D, Journel H, Raffo E, Vigneron J, Lyonnet S, Murday V, Gubser-Mercati D, Funalot B, Brueton L, Sanchez Del Pozo J, Muxf1oz E, Gennery AR, Salih M, Noruzinia M, Prescott K, Ramos L, Stark Z, Fieggen K, Chabrol B, Sarda P, Edery P, Bloch-Zupan A, Fawcett H, Pham D, Egly JM, Lehmann AR, Sarasin A, and Dollfus H.

Published
2010

35. An exploratory randomised double-blind and placebo-controlled phase 2 study of a combination of baclofen, naltrexone and sorbitol (PXT3003) in patients with Charcot-Marie-Tooth disease type 1A

Author

Attarian, S, Vallat, J-M, Magy, L, Funalot, B, Gonnaud, P-M, Lacour, A, Pereon, Y, Dubourg, O, Pouget, J, Micallef, J, Franques, J, Lefebvre, M-N, Ghorab, K, Al-Moussawi, M, Tiffreau, V, Preudhomme, M, Magot, A, Leclair-Visonneau, L, Stojkovic, T, Bossi, L, Lehert, P, Gilbert, W, Bertrand, V, Mandel, J, Milet, A, Hajj, R, Boudiaf, L, Scart-Gres, C, Nabirotchkin, S, Guedj, M, Chumakov, I, Cohen, D, Attarian, S, Vallat, J-M, Magy, L, Funalot, B, Gonnaud, P-M, Lacour, A, Pereon, Y, Dubourg, O, Pouget, J, Micallef, J, Franques, J, Lefebvre, M-N, Ghorab, K, Al-Moussawi, M, Tiffreau, V, Preudhomme, M, Magot, A, Leclair-Visonneau, L, Stojkovic, T, Bossi, L, Lehert, P, Gilbert, W, Bertrand, V, Mandel, J, Milet, A, Hajj, R, Boudiaf, L, Scart-Gres, C, Nabirotchkin, S, Guedj, M, Chumakov, I, and Cohen, D

Abstract

BACKGROUND: Charcot-Marie-Tooth type 1A disease (CMT1A) is a rare orphan inherited neuropathy caused by an autosomal dominant duplication of a gene encoding for the structural myelin protein PMP22, which induces abnormal Schwann cell differentiation and dysmyelination, eventually leading to axonal suffering then loss and muscle wasting. We favour the idea that diseases can be more efficiently treated when targeting multiple disease-relevant pathways. In CMT1A patients, we therefore tested the potential of PXT3003, a low-dose combination of three already approved compounds (baclofen, naltrexone and sorbitol). Our study conceptually builds on preclinical experiments highlighting a pleiotropic mechanism of action that includes downregulation of PMP22. The primary objective was to assess safety and tolerability of PXT3003. The secondary objective aimed at an exploratory analysis of efficacy of PXT3003 in CMT1A, to be used for designing next clinical development stages (Phase 2b/3). METHODS: 80 adult patients with mild-to-moderate CMT1A received in double-blind for 1 year Placebo or one of the three increasing doses of PXT3003 tested, in four equal groups. Safety and tolerability were assessed with the incidence of related adverse events. Efficacy was assessed using the Charcot-Marie-Tooth Neuropathy Score (CMTNS) and the Overall Neuropathy Limitations Scale (ONLS) as main endpoints, as well as various clinical and electrophysiological outcomes. RESULTS: This trial confirmed the safety and tolerability of PXT3003. The highest dose (HD) showed consistent evidence of improvement beyond stabilization. CMTNS and ONLS, with a significant improvement of respectively of 8% (0.4% - 16.2%) and 12.1% (2% - 23.2%) in the HD group versus the pool of all other groups, appear to be the most sensitive clinical endpoints to treatment despite their quasi-stability over one year under Placebo. Patients who did not deteriorate over one year were significantly more frequent in the HD group.

Published
2014

41. FLNA genomic rearrangements cause periventricular nodular heterotopia

Author

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

Published
2012
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43. A common pattern of brain MRI imaging in mitochondrial diseases with complex I deficiency

Author

Lebre, A. S., primary, Rio, M., additional, Faivre d'Arcier, L., additional, Vernerey, D., additional, Landrieu, P., additional, Slama, A., additional, Jardel, C., additional, Laforet, P., additional, Rodriguez, D., additional, Dorison, N., additional, Galanaud, D., additional, Chabrol, B., additional, Paquis-Flucklinger, V., additional, Grevent, D., additional, Edvardson, S., additional, Steffann, J., additional, Funalot, B., additional, Villeneuve, N., additional, Valayannopoulos, V., additional, de Lonlay, P., additional, Desguerre, I., additional, Brunelle, F., additional, Bonnefont, J. P., additional, Rotig, A., additional, Munnich, A., additional, and Boddaert, N., additional

Published
2010
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44. Mutation update for theCSB/ERCC6andCSA/ERCC8genes involved in Cockayne syndrome

Author

Laugel, V., primary, Dalloz, C., additional, Durand, M., additional, Sauvanaud, F., additional, Kristensen, U., additional, Vincent, M.C., additional, Pasquier, L., additional, Odent, S., additional, Cormier-Daire, V., additional, Gener, B., additional, Tobias, E.S., additional, Tolmie, J.L., additional, Martin-Coignard, D., additional, Drouin-Garraud, V., additional, Heron, D., additional, Journel, H., additional, Raffo, E., additional, Vigneron, J., additional, Lyonnet, S., additional, Murday, V., additional, Gubser-Mercati, D., additional, Funalot, B., additional, Brueton, L., additional, Sanchez del Pozo, J., additional, Muñoz, E., additional, Gennery, A.R., additional, Salih, M., additional, Noruzinia, M., additional, Prescott, K., additional, Ramos, L., additional, Stark, Z., additional, Fieggen, K., additional, Chabrol, B., additional, Sarda, P., additional, Edery, P., additional, Bloch-Zupan, A., additional, Fawcett, H., additional, Pham, D., additional, Egly, J.M., additional, Lehmann, A.R., additional, Sarasin, A., additional, and Dollfus, H., additional

Published
2010
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46. 1H MRS spectroscopy evidence of cerebellar high lactate in mitochondrial respiratory chain deficiency

Author

Boddaert, N., primary, Romano, S., additional, Funalot, B., additional, Rio, M., additional, Sarzi, E., additional, Lebre, A.S., additional, Bahi-Buisson, N., additional, Valayannopoulos, V., additional, Desguerre, I., additional, Seidenwurm, D., additional, Brunelle, F., additional, Brami-Zylberberg, F., additional, Rötig, A., additional, Munnich, A., additional, and de Lonlay, P., additional

Published
2008
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