Search Results - "Lévy, N"

MEN1 Disease Occurring Before 21 Years Old: A 160-Patient Cohort Study From the Groupe d'étude des Tumeurs Endocrines by Goudet, P, Dalac, A, Le Bras, M, Cardot-Bauters, C, Niccoli, P, Lévy-Bohbot, N, du Boullay, H, Bertagna, X, Ruszniewski, P, Borson-Chazot, F, Vergès, B, Sadoul, J. L, Ménégaux, F, Tabarin, A, Kühn, J. M, d'Anella, P, Chabre, O, Christin-Maitre, S, Cadiot, G, Binquet, C, Delemer, B

“…Context: Multiple endocrine neoplasia Type-1 (MEN1) in young patients is only described by case reports. Objective: To improve the knowledge of MEN1 natural…”
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Identification of novel pathogenic copy number variations in Charcot-Marie-Tooth disease by Mortreux, J, Bacquet, J, Boyer, A, Alazard, E, Bellance, R, Giguet-Valard, A G, Cerino, M, Krahn, M, Audic, F, Chabrol, B, Laugel, V, Desvignes, J P, Béroud, C, Nguyen, K, Verschueren, A, Lévy, N, Attarian, S, Delague, V, Missirian, C, Bonello-Palot, N

“…Charcot-Marie-Tooth disease (CMT) is a hereditary sensory-motor neuropathy characterized by a strong clinical and genetic heterogeneity. Over the past few…”
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Novel CAPN3 variant associated with an autosomal dominant calpainopathy by Cerino, M., Campana‐Salort, E., Salvi, A., Cintas, P., Renard, D., Juntas Morales, R., Tard, C., Leturcq, F., Stojkovic, T., Bonello‐Palot, N., Gorokhova, S., Mortreux, J., Maues De Paula, A., Lévy, N., Pouget, J., Cossée, M., Bartoli, M., Krahn, M., Attarian, S.

“…Aims The most common autosomal recessive limb girdle muscular dystrophy is associated with the CAPN3 gene. The exclusively recessive inheritance of this…”
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Clinical massively parallel sequencing for the diagnosis of myopathies by Gorokhova, S, Biancalana, V, Lévy, N, Laporte, J, Bartoli, M, Krahn, M

“…Massively parallel sequencing, otherwise known as high-throughput or next-generation sequencing, is rapidly gaining wide use in clinical practice due to…”
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"Pain as the fifth vital sign" and dependence on the "numerical pain scale" is being abandoned in the US: Why? by Levy, N, Sturgess, J, Mills, P

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Eosinophilic infiltration related to CAPN3 mutations: a pathophysiological component of primary calpainopathy? by Krahn, M, Goicoechea, M, Hanisch, F, Groen, E, Bartoli, M, Pécheux, C, Garcia-Bragado, F, Leturcq, F, Jeannet, P-Y, Lobrinus, JA, Jacquemont, S, Strober, J, Urtizberea, JA, Saenz, A, Bushby, K, Lévy, N, Lopez de Munain, A

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Diagnostic strategy for limb-girdle muscular dystrophies by Eymard, B., Lévy, N.

“…Limb-girdle muscular dystrophies represent a major chapter of genetic myopathies. Many different entities have been identified, most of them with recessive…”
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T.P.27 Characterization of the modular domains of dysferlin for gene transfer by Barthélémy, F, Kergourlay, V, Lévy, N, Krahn, M, Bartoli, M

“…Abstract Dysferlin, a transmembrane protein involved in muscle membrane repair and T-tubule homeostasis is composed by several domains including seven C2…”
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Pre‐operative optimisation of the surgical patient with diagnosed and undiagnosed diabetes: a practical review by Levy, N., Dhatariya, K.

“…Summary Peri‐operative hyperglycaemia, whether the cause is known diabetes, undiagnosed diabetes or stress hyperglycaemia, is a risk factor for harm, increased…”
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Next-generation DNA sequencing in clinical diagnostics by Lacoste, C, Fabre, A, Pécheux, C, Lévy, N, Krahn, M, Malzac, P, Bonello-Palot, N, Badens, C, Bourgeois, P

“…The advent of next generation sequencing (NGS) technologies is so scale-changing that it modifies molecular diagnostics indications and induces laboratories to…”
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Narcissistic Personality Disorder: Diagnostic and Clinical Challenges by Caligor, Eve, Levy, Kenneth N., Yeomans, Frank E.

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Founder Effect and Estimation of the Age of the c.892C>T (p.Arg298Cys) Mutation in LMNA Associated to Charcot‐Marie‐Tooth Subtype CMT2B1 in Families from North Western Africa by Hamadouche, T., Poitelon, Y., Genin, E., Chaouch, M., Tazir, M., Kassouri, N., Nouioua, S., Chaouch, A., Boccaccio, I., Benhassine, T., De Sandre‐Giovannoli, A., Grid, D., Lévy, N., Delague, V.

“…Summary CMT2B1, an axonal subtype (MIM 605588) of the Charcot‐Marie‐Tooth disease, is an autosomal recessive motor and sensory neuropathy characterized by…”
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Strain-Induced Pseudo-Magnetic Fields Greater Than 300 Tesla in Graphene Nanobubbles by Levy, N, Burke, S.A, Meaker, K.L, Panlasigui, M, Zettl, A, Guinea, F, Neto, A.H. Castro, Crommie, M.F

“…Recent theoretical proposals suggest that strain can be used to engineer graphene electronic states through the creation of a pseudo-magnetic field. This…”
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Phosphorus-mediated sp2–sp3 couplings for C–H fluoroalkylation of azines by Zhang, Xuan, Nottingham, Kyle G., Patel, Chirag, Alegre-Requena, Juan V., Levy, Jeffrey N., Paton, Robert S., McNally, Andrew

“…Fluoroalkyl groups profoundly affect the physical properties of pharmaceuticals and influence almost all metrics associated with their pharmacokinetic and…”
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PMP22 overexpression causes dysmyelination in mice by Robaglia‐Schlupp, A., Pizant, J., Norreel, J.‐C., Passage, E., Sabéran‐Djoneidi, D., Ansaldi, J.‐L., Vinay, L., Figarella‐Branger, D., Lévy, N., Clarac, F., Cau, P., Pellissier, J.‐F., Fontés, M.

“…Charcot–Marie–Tooth (CMT) disease is the most frequent hereditary peripheral neuropathy in humans. Its prevalence is about one in 2500. A subform, CMT1A, is…”
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Regional anaesthesia in patients with diabetes by Levy, N., Lirk, P.

“…Summary Diabetes is the most common metabolic condition worldwide and about 20% of surgical patients will have this condition. It is a major risk‐factor for…”
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National guidance contributes to the high incidence of inpatient hypoglycaemia by Levy, N., Hall, G. M.

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D.P.2 Next generation sequencing after selected DNA capture as a tool for molecular diagnosis of neuromuscular disorders by Nelson, I, Allamand, V, Ben Yaou, R, Baulande, S, Criqui, A, De Cid Ibeas, R, Richard, I, Richard, P, Voit, T, Lévy, N, Bonne, G

“…Abstract Currently in most laboratories, molecular investigations of neuromuscular disorders (NMDs) are based on a differential molecular diagnosis by a…”
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P2.52 Dysferlin and anoctamin 5 mutations in the Dutch distal muscular dystrophy cohort by de Visser, M, Linssen, W.H.J, Wokke, J.H.J, Bernard, R, Lévy, N, Ginjaar, H.B

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Initial Construction and Validation of the Pathological Narcissism Inventory by Pincus, Aaron L, Ansell, Emily B, Pimentel, Claudia A, Cain, Nicole M, Wright, Aidan G. C, Levy, Kenneth N

“…The construct of narcissism is inconsistently defined across clinical theory, social-personality psychology, and psychiatric diagnosis. Two problems were…”
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