Search Results - "Péréon, Y"

Therapeutic tools for inherited neuropathies by Péréon, Y.

“…Inherited neuropathies are a genetically and phenotypically heterogenous group of disorders leading to sensory and motor dysfunction. For years, these…”
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An old but still relevant question: Why are specific muscles more involved in some myopathies? by Drouin, E., Magot, A., Péréon, Y.

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Maupassant's folie, from unpublished letters by Drouin, E, Péréon, Y

“…Guy de Maupassant (1850-1893) was one of the most important storytellers of all times. We analysed some unpublished handwritten letters of Maupassant and…”
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Peduncular hallucinosis according to Jean Lhermitte by Drouin, E., Péréon, Y.

“…Peduncular hallucinosis (PH) is a rare clinical syndrome with dream-like visual hallucinations intruding normal consciousness. It was initially reported in a…”
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Marian apparitions: Point of view from Jean Lhermitte by Drouin, E, Péréon, Y

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ARL6IP1 mutation causes congenital insensitivity to pain, acromutilation and spastic paraplegia by Nizon, M., Küry, S., Péréon, Y., Besnard, T., Quinquis, D., Boisseau, P., Marsaud, T., Magot, A., Mussini, J.‐M., Mayrargue, E., Barbarot, S., Bézieau, S., Isidor, B.

“…Hereditary sensory and autonomic neuropathies (HSAN) type II are characterized by autosomal recessive inheritance, onset at birth and self‐mutilating behavior…”
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COVID-19: A putative trigger for neuralgic amyotrophy by Balloy, G., Magot, A., Fayet, G., Bonnemain, B., Péréon, Y.

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Prospective study of the additional benefit of plexus magnetic resonance imaging in the diagnosis of chronic inflammatory demyelinating polyneuropathy by Jomier, F., Bousson, V., Viala, K., Péréon, Y., Magot, A., Cauquil, C., Bouhour, F., Vial, C., Bedat‐Millet, A.‐L., Taithe, F., Bresch, S., Siri, A., Kubis, N., Lozeron, P.

“…Background and purpose Hypertrophy/signal hyperintensity and/or gadolinium enhancement of plexus structures on magnetic resonance imaging (MRI) are observed in…”
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Self-reported outcomes and quality of life of patients with non-dystrophic myotonia: The French IMPACT 2022 survey by Vicart, S., Péréon, Y., Ghorab, K., Pegat, A., Dufresne, R., Zozulya-Weidenfeller, A., Noury, J.-B., Nadaj-Pakleza, A., Tard, C., Sacconi, S.

“…•Patients with non-dystrophic myotonias develop coping strategies for daily living.•The French IMPACT 2022 survey evaluated how myotonia affects patients’…”
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Restoration of vision in RPE65-deficient Briard dogs using an AAV serotype 4 vector that specifically targets the retinal pigmented epithelium by LE MEUR, G, STIEGER, K, ALI, R. R, HAMEL, C, MOULLIER, P, ROLLING, F, SMITH, A. J, WEBER, M, DESCHAMPS, J. Y, NIVARD, D, MENDES-MADEIRA, A, PROVOST, N, PEREON, Y, CHEREL, Y

“…Previous studies have tested gene replacement therapy in RPE65-deficient dogs using recombinant adeno-associated virus 2/2 (rAAV2/2), -2/1 or -2/5 mediated…”
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Dramatic recovery in a patient with anti-myelin–associated glycoprotein neuropathy by Magot, A., Mahé, B., Balloy, G., Chevallier, P., Péréon, Y.

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Demonic possession by Jean Lhermitte by Drouin, E, Péréon, T, Péréon, Y

“…The name of the French neurologist and psychiatrist Jean Lhermitte (1877-1959) is most often associated with the sign he described back in 1927 in three…”
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Current clinical management of CIDP with immunoglobulins in France: An expert opinion by Cintas, P., Bouhour, F., Cauquil, C., Masingue, M., Tard, C., Sacconi, S., Delmont, E., Choumert, A., Chanson, J.-B., Michaud, M., Solé, G., Cassereau, J., Noury, J.-B., Nicolas, G., Bellance, R., Péréon, Y., Camdessanché, J.-P., Magy, L., Attarian, S.

“…•Recurrent Ig shortages require a responsible use.•Disability and impairment scales should be used regularly to assess Ig efficacy.•Treatment dependence should…”
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Consensus on the use of neurophysiological tests in the intensive care unit (ICU): Electroencephalogram (EEG), evoked potentials (EP), and electroneuromyography (ENMG) by Guérit, J.-M, Amantini, A, Amodio, P, Andersen, K.V, Butler, S, de Weerd, A, Facco, E, Fischer, C, Hantson, P, Jäntti, V, Lamblin, M.-D, Litscher, G, Péréon, Y

“…Summary Study aim To provide a consensus of European leading authorities about the optimal use of clinical neurophysiological (CN) tests (electroencephalogram…”
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Duchenne muscular dystrophy pathophysiology by Péréon, Y, Mercier, S, Magot, A

“…Dystrophin is a large cytoskeletal protein located at the plasma membrane in both muscle and non-muscle tissues, which mediates interactions between the…”
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Intraoperative neurophysiologic monitoring in spine surgery. Developments and state of the art in France in 2011 by Gavaret, M, Jouve, J.L, Péréon, Y, Accadbled, F, André-Obadia, N, Azabou, E, Blondel, B, Bollini, G, Delécrin, J, Farcy, J.-P, Fournet-Fayard, J, Garin, C, Henry, P, Manel, V, Mutschler, V, Perrin, G, Sales de Gauzy, J

“…Summary Intraoperative spinal cord monitoring consists in a subcontinuous evaluation of spinal cord sensory-motor functions and allows the reduction the…”
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Specific features of Becker Muscular Dystrophy patients and female carriers of Duchenne Muscular Dystrophy by Magot, A, Mercier, S, Péréon, Y

“…Becker muscular dystrophy (BMD) was first described in 1955 and linked to the DMD gene in 1987. Compared to Duchenne muscular dystrophy (DMD), clinical onset…”
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Late-onset Pompe disease in France: molecular features and epidemiology from a nationwide study by Semplicini, Claudio, Letard, Pascaline, De Antonio, Marie, Taouagh, Nadjib, Perniconi, Barbara, Bouhour, Françoise, Echaniz-Laguna, Andoni, Orlikowski, David, Sacconi, Sabrina, Salort-Campana, Emmanuelle, Solé, Guilhem, Zagnoli, Fabien, Hamroun, Dalil, Froissart, Roseline, Caillaud, Catherine, Laforêt, Pascal

“…Pompe disease (PD) is caused by a deficiency of lysosomal acid α-glucosidase resulting from mutations in the GAA gene. The clinical spectrum ranges from a…”
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Diagnostic and prognostic contribution of laryngeal electromyography in unilateral vocal-fold immobility in adults by Focquet, A, Péréon, Y, Ségura, S, Ferron, C, Malard, O, Espitalier, F

“…Abstract Objectives To study the diagnostic and prognostic contribution of laryngeal electromyography in unilateral vocal-fold immobility in adults. Material…”
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Effect of enzyme replacement therapy with alglucosidase alfa (Myozyme®) in 12 patients with advanced late-onset Pompe disease by Papadopoulos, Constantinos, Orlikowski, David, Prigent, Hélène, Lacour, Arnaud, Tard, Céline, Furby, Alain, Praline, Julien, Solé, Guilhem, Hogrel, Jean-Yves, De Antonio, Marie, Semplicini, Claudio, Deibener-Kaminsky, Joelle, Kaminsky, Pierre, Eymard, Bruno, Taouagh, Nadjib, Perniconi, Barbara, Hamroun, Dalil, Laforêt, Pascal, Bassez, G., Bedat-Millet, A.-L., Behin, A., Eymard, B., Leonard-Louis, S., Stojkovic, T., Canal, A., Decostre, V., Bouhour, F., Boyer, F., Caillaud, C., Castaing, Y., Chapon, F., Cintas, P., Durieu, I., Echaniz-Laguna, A., Feasson, L., Ferrer, X., Froissart, R., Piraud, M., Germain, D., Benistan, K., Guffon-Fouilhoux, N., Journel, H., Labauge, P., Levy, A., Magot, A., Péréon, Y., Minot-Myhié, M.-C., Nadaj-Pakleza, A., Nathier, C., Pellegrini, N., Petiot, P., Lofaso, F., Dutry, A., Renard, D., Sacconi, S., Desnuelle, C., Salort-Campana, E., Pouget, J., Tiffreau, V., Vincent, D., Zagnoli, F.

“…The efficacy of enzyme replacement therapy (ERT) in patients at an advanced stage of Pompe disease has only been addressed in a few studies. Our objective was…”
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