Search Results - "Pou Serradell, Adolf"

Mutation in the Human Acetylcholinesterase-Associated Collagen Gene, COLQ, Is Responsible for Congenital Myasthenic Syndrome with End-Plate Acetylcholinesterase Deficiency (Type Ic) by Donger, Claire, Krejci, Eric, Pou Serradell, Adolf, Eymard, Bruno, Bon, Suzanne, Nicole, Sophie, Chateau, Danielle, Gary, Françoise, Fardeau, Michel, Massoulié, Jean, Guicheney, Pascale

“…Congenital myasthenic syndrome (CMS) with end-plate acetylcholinesterase (AChE) deficiency is a rare autosomal recessive disease, recently classified as CMS…”
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Tuberous sclerosis complex. Forty-years of follow-up of a patient affected by Vallmanya, Felip, Placer, Jose, Pou Serradell, Adolf, Cortadellas, Ramon, Gelabert-Mas, Antoni

“…To report the case of a patient diagnosed with tuberous sclerosis complex (TSC), describe its clinical features, diagnosis, and to attract attention on the…”
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Sensory neuropathy with bone destruction due to a mutation in the membrane-shaping atlastin GTPase 3 by KORNAK, Uwe, MADEMAN, Inès, POU-SERRADELL, Adolf, VILCHEZ, Juan J, BEETZ, Christian, DECONINCK, Tine, TIMMERMAN, Vincent, KAETHER, Christoph, DE JONGHE, Peter, HÜBNER, Christian A, GAL, Andreas, AMLING, Michael, SCHINKE, Marte, MUNDLOS, Stefan, BAETS, Jonathan, KURTH, Ingo, VOIGT, Martin, KRAWITZ, Peter, HECHT, Jochen, BARVENCIK, Florian, SCHINKE, Thorsten, GIESSELMANN, Sebastian, TIMO BEIL, F

“…Many neurodegenerative disorders present with sensory loss. In the group of hereditary sensory and autonomic neuropathies loss of nociception is one of the…”
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Genetic spectrum of hereditary neuropathies with onset in the first year of life by Baets, Jonathan, Deconinck, Tine, De Vriendt, Els, Zimo, Magdalena, Yperzeele, Laetitia, Van Hoorenbeeck, Kim, Peeters, Kristien, Spiegel, Ronen, Parman, Yesim, Ceulemans, Berten, Van Bogaert, Patrick, Pou-Serradell, Adolf, Bernert, Günther, Dinopoulos, Argirios, Auer-Grumbach, Michaela, Sallinen, Satu-Leena, Fabrizi, Gian Maria, Pauly, Fernand, Van den Bergh, Peter, Bilir, Birdal, Battaloglu, Esra, Madrid, Ricardo E., Kabzi ska, Dagmara, Kochanski, Andrzej, Topaloglu, Haluk, Miller, Geoffrey, Jordanova, Albena, Timmerman, Vincent, De Jonghe, Peter

“…Early onset hereditary motor and sensory neuropathies are rare disorders encompassing congenital hypomyelinating neuropathy with disease onset in the direct…”
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Tuberous sclerosis complex. Forty-years of follow-up of a patients affected by Vallmanya, Felip, Placer, Jose, Pou Serradell, Adolf, Cortadellas, Ramon, Gelabert-Mas, Antoni

“…Objectives: To report the case of a patient diagnosed with tuberous sclerosis complex (TSC), describe its clinical features, diagnosis, and to attract…”
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Neuropatías disinmunes adquiridas. Sintomatología clínica y clasificación by Pou Serradell, Adolf

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A prospective study of atrial fibrillation and stroke by D'OLHABERRIAGUE, L, HERNANDEZ-VIDAL, A, MOLINA, L, SOLER-SINGLA, L, MARRUGAT, J, PONS, S, MORAL, A, POU-SERRADELL, A

“…In a prospective study of 72 patients with stroke and atrial fibrillation, we classified strokes as cardioembolic or noncardioembolic based on arterial…”
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Anticoagulación oral en la prevención secundaria de la enfermedad vascular cerebral. Seguimiento a largo plazo de 169 pacientes by Palomeras Soler, Ernest, Roquer González, Jaume, Pou Serradell, Adolf

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Varón de 56 años con debilidad en extremidades inferiores by Bonaventura Ibars, Immaculada, Pou Serradell, Adolf, Vinyas Gayà, J., Corominas, J.M.

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