Search Results - "CASASNOVAS, C"

Early electrophysiological findings in Fisher-Bickerstaff syndrome by Alberti, M A, Povedano, M, Montero, J, Casasnovas, C

“…INTRODUCTIONThe term Fisher-Bickerstaff syndrome (FBS) has been proposed to describe the clinical spectrum encompassing Miller-Fisher syndrome (MFS) and…”
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MuSK autoantibodies in myasthenia gravis detected by cell based assay — A multinational study by Tsonis, A.I, Zisimopoulou, P, Lazaridis, K, Tzartos, J, Matsigkou, E, Zouvelou, V, Mantegazza, R, Antozzi, C, Andreetta, F, Evoli, A, Deymeer, F, Saruhan-Direskeneli, G, Durmus, H, Brenner, T, Vaknin, A, Berrih-Aknin, S, Behin, A, Sharshar, T, De Baets, M, Losen, M, Martinez-Martinez, P, Kleopa, K.A, Zamba-Papanicolaou, E, Kyriakides, T, Kostera-Pruszczyk, A, Szczudlik, P, Szyluk, B, Lavrnic, D, Basta, I, Peric, S, Tallaksen, C, Maniaol, A, Casasnovas Pons, C, Pitha, J, Jakubíkova, M, Hanisch, F, Tzartos, S.J

“…Abstract Seronegative myasthenia gravis (MG) presents a serious gap in MG diagnosis and understanding. We applied a cell based assay (CBA) for the detection of…”
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Phenotypic spectrum of MFN2 mutations in the Spanish population by Casasnovas, C, Banchs, I, Cassereau, J, Gueguen, N, Chevrollier, A, Martínez-Matos, J A, Bonneau, D, Volpini, V

“…The most common form of axonal Charcot-Marie-Tooth (CMT) disease is type 2A, caused by mutations in the mitochondrial GTPase mitofusin 2 (MFN2). The objective…”
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Early electrophysiological findings in Fisher-Bickerstaff syndrome by Alberti, M.A., Povedano, M., Montero, J., Casasnovas, C.

“…The term Fisher-Bickerstaff syndrome (FBS) has been proposed to describe the clinical spectrum encompassing Miller-Fisher syndrome (MFS) and Bickerstaff…”
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Cervical Vestibular-Evoked Myogenic Potential (cVEMP) in adrenomyeloneuropathy patients by Veciana, M, Pedro, J, Yagüe, S, Pujol, A, Casasnovas, C, Papathanasiou, E.S

“…Objective Adrenomyeloneuropathy (ADM) is one of the clinical phenotypes of adrenoleukodystrophy, characterized by distal axonopathy and varyng degrees of…”
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Hereditary Transthyretin Amyloidosis with Polyneuropathy: Monitoring and Management by Vélez-Santamaría, Valentina, Nedkova-Hristova, Velina, Morales de la Prida, Moisés, Casasnovas, Carlos

“…Our aim in this review is to discuss current treatments and investigational products and their effect on patients with hereditary transthyretin amyloidosis…”
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SIMULTANEOUS MFN2 AND GDAP1 MUTATIONS CAUSE MAJOR MITOCHONDRIAL DEFECTS IN A PATIENT WITH CMT by CASSEREAU, J, CASASNOVAS, C, PROCACCIO, V, CHEVROLLIER, A, GUEGUEN, N, MALINGE, M.-C, GUILLET, V, REYNIER, P, BONNEAU, D, AMATI-BONNEAU, P, BANCHS, I, VOLPINI, V

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Clinical practice guidelines for the diagnosis and management of Charcot-Marie-Tooth disease by Sivera Mascaró, R, García Sobrino, T, Horga Hernández, A, Pelayo Negro, A L, Alonso Jiménez, A, Antelo Pose, A, Calabria Gallego, M D, Casasnovas, C, Cemillán Fernández, C A, Esteban Pérez, J, Fenollar Cortés, M, Frasquet Carrera, M, Gallano Petit, M P, Giménez Muñoz, A, Gutiérrez Gutiérrez, G, Gutiérrez Martínez, A, Juntas Morales, R, Ciano-Petersen, N L, Martínez Ulloa, P L, Mederer Hengstl, S, Millet Sancho, E, Navacerrada Barrero, F J, Navarrete Faubel, F E, Pardo Fernández, J, Pascual Pascual, S I, Pérez Lucas, J, Pino Mínguez, J, Rabasa Pérez, M, Sánchez González, M, Sotoca, J, Rodríguez Santiago, B, Rojas García, R, Turon-Sans, J, Vicent Carsí, V, Sevilla Mantecón, T

“…Charcot-Marie-Tooth disease (CMT) is classified according to neurophysiological and histological findings, the inheritance pattern, and the underlying genetic…”
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P820: Withdrawal reaction in response to a single nociceptive stimulus in myelopathy by Yaguee, S, Veciana, M, Pedro, J, Casasnovas, C, Pujol, A, Albertí, A, Montero, J, Valls, J

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Clinical study of 39 patients with atypical lacunar syndrome by Arboix, A, López-Grau, M, Casasnovas, C, García-Eroles, L, Massons, J, Balcells, M

“…The aim of this study was to describe the clinical characteristics of atypical lacunar syndrome (ALS) based on data collected from a prospective acute stroke…”
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Hallazgos electrofisiológicos precoces en síndrome Fisher-Bickerstaff by Alberti, M.A., Povedano, M., Montero, J., Casasnovas, C.

“…El término síndrome de Fisher-Bickerstaff (SFB) ha sido propuesto para describir el espectro clínico que engloba el síndrome de Miller-Fisher y la encefalitis…”
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Titin antibodies in “seronegative” myasthenia gravis — A new role for an old antigen by Stergiou, C, Lazaridis, K, Zouvelou, V, Tzartos, J, Mantegazza, R, Antozzi, C, Andreetta, F, Evoli, A, Deymeer, F, Saruhan-Direskeneli, G, Durmus, H, Brenner, T, Vaknin, A, Berrih-Aknin, S, Behin, A, Sharshar, T, De Baets, M, Losen, M, Martinez-Martinez, P, Kleopa, K.A, Zamba-Papanicolaou, E, Kyriakides, T, Kostera-Pruszczyk, A, Szczudlik, P, Szyluk, B, Lavrnic, D, Basta, I, Peric, S, Tallaksen, C, Maniaol, A, Gilhus, N.E, Casasnovas Pons, C, Pitha, J, Jakubíkova, M, Hanisch, F, Bogomolovas, J, Labeit, D, Labeit, S, Tzartos, S.J

“…Abstract Myasthenia gravis (MG) is an autoimmune disease caused by antibodies targeting the neuromuscular junction of skeletal muscles. Triple-seronegative MG…”
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Motivation to change in eating disorders: clinical and therapeutic implications by Casasnovas, C., Fernández-Aranda, F., Granero, R., Krug, I., Jiménez-Murcia, S., Bulik, C. M., Vallejo-Ruiloba, J.

“…Objectives The aim of this study was to understand the clinical impact of the motivational stage of change on the psychopathology and symptomatology of…”
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Two Spanish families with Charcot–Marie–Tooth type 2A: Clinical, electrophysiological and molecular findings by Banchs, I, Casasnovas, C, Montero, J, Martínez-Matos, J.A, Volpini, V

“…Abstract Mutations in the Mitofusin 2 (MFN2) gene have been related to the axonal type of Charcot–Marie–Tooth type 2 (CMT 2A). We report the first two Spanish…”
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Guidelines for molecular diagnosis of Charcot-Marie-Tooth disease by Berciano, J, Sevilla, T, Casasnovas, C, Sivera, R, Vílchez, J J, Infante, J, Ramón, C, Pelayo-Negro, A L, Illa, I

“…Charcot-Marie-Tooth disease (CMT) is the most frequent form of inherited neuropathy. In accordance with the inheritance pattern and degree of slowing of motor…”
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Multifocal acquired demyelinating sensory and motor neuropathy presenting as idiopathic hypertrophic brachial neuropathy by Simó, M, Casasnovas, C, Martínez-Yélamos, S, Martínez-Matos, J A

“…There was no clear clinical response. [...]prednisone was replaced by treatment with immunoglobulins (0.4 g/kg) every 2 months. Diffuse brachial plexus with…”
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457 “DE NOVO” AMYLOIDOSIS IN RECIPIENTS OF DOMINO LIVER TRANSPLANTATION: CLINICAL AND HISTOLOGICAL DATA by Baliellas, C, Lladó, L, Casasnovas, C, Castellote, J, Fabregat, J, Ferrer, I, Rota, R, Torras, J, Ramos, E, Xiol, X, Rafecas, A

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Musk-antibody positive myasthenia gravis presenting with isolated neck extensor weakness by Casasnovas, C, Povedano, M, Jaumà, S, Montero, J, Martínez-Matos, J.A

“…Abstract Dropped head sign is characterized by the gradual forward sagging of the head due to weakness of neck extensor muscles. This may be a prominent sign…”
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Clinical and molecular analysis of X-linked Charcot-Marie-Tooth disease type 1 in Spanish population by Casasnovas, C, Banchs, I, Corral, J, Martínez-Matos, JA, Volpini, V

“…From 1995 to 2004, 979 families with hereditary peripheral neuropathy were referred to the Genetic Diagnosis Center. Using single‐strand conformation analysis…”
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Guidelines for molecular diagnosis of Charcot-Marie-Tooth disease by Berciano, J., Sevilla, T., Casasnovas, C., Sivera, R., Vílchez, J.J., Infante, J., Ramón, C., Pelayo-Negro, A.L., Illa, I.

“…Charcot-Marie-Tooth disease (CMT) is the most frequent form of inherited neuropathy. In accordance with the inheritance pattern and degree of slowing of motor…”
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