Search Results - "Pou, Adolf"

Clinical and myopathological evaluation of early- and late-onset subtypes of myofibrillar myopathy by Olivé, Montse, Odgerel, Zagaa, Martínez, Amaia, Poza, Juan José, Bragado, Federico García, Zabalza, Ramón J, Jericó, Ivonne, Gonzalez-Mera, Laura, Shatunov, Alexey, Lee, Hee Suk, Armstrong, Judith, Maraví, Elías, Arroyo, Maria Ramos, Pascual-Calvet, Jordi, Navarro, Carmen, Paradas, Carmen, Huerta, Mariano, Marquez, Fabian, Rivas, Eduardo Gutierrez, Pou, Adolf, Ferrer, Isidre, Goldfarb, Lev G

“…Abstract Myofibrillar myopathies (MFM) are a group of disorders associated with mutations in DES , CRYAB , MYOT , ZASP , FLNC , or BAG3 genes and characterized…”
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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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New cardiac and skeletal protein aggregate myopathy associated with combined MuRF1 and MuRF3 mutations by Olivé, Montse, Abdul-Hussein, Saba, Oldfors, Anders, González-Costello, José, van der Ven, Peter F M, Fürst, Dieter O, González, Laura, Moreno, Dolores, Torrejón-Escribano, Benjamín, Alió, Josefina, Pou, Adolf, Ferrer, Isidro, Tajsharghi, Homa

“…Protein aggregate myopathies (PAMs) define muscle disorders characterized by protein accumulation in muscle fibres. We describe a new PAM in a patient with…”
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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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New cardiac and skeletal protein aggregate myopathy associated with combined MuRF1 and MuRF3 mutations by Olivé, Montse, Abdul-Hussein, Saba, Oldfors, Anders, González-Costello, José, van der Ven, Peter F M, Fürst, Dieter O, González, Laura, Moreno, Dolores, Torrejón-Escribano, Benjamín, Alió, Josefina, Pou, Adolf, Ferrer, Isidro, Tajsharghi, Homa

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New cardiac and skeletal protein aggregate myopathy associated with combined MuRF1 and MuRF3 mutations: Human Molecular Genetics, 24, 13, (2015) 3638-3650DOI: 10.1093/hmg/ddv108 [Erratum by Olivé, Montse, Abdul-Hussein, Saba, Oldfors, Anders, González-Costello, José, van der Ven, Peter F. M., Fürst, Dieter O., González, Laura, Moreno, Dolores, Torrejón-Escribano, Benjamín, Alió, Josefina, Pou, Adolf, Ferrer, Isidro, Tajsharghi, Homa

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Mononeuritis multiplex in Waldenström's macroglobulinemia by Lamarca, J, Casquero, P, Pou, A

“…We describe a patient with mononeuritis multiplex who had cranial nerve involvement in association with Waldenström's macroglobulinemia. Sural nerve biopsy…”
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Phenotypic patterns of desminopathy associated with three novel mutations in the desmin gene by Olivé, Montse, Armstrong, Judith, Miralles, Francesc, Pou, Adolf, Fardeau, Michel, Gonzalez, Laura, Martínez, Francesca, Fischer, Dirk, Martínez Matos, Juan Antonio, Shatunov, Alexey, Goldfarb, Lev, Ferrer, Isidre

“…Abstract Desminopathy represents a subgroup of myofibrillar myopathies caused by mutations in the desmin gene. Three novel disease-associated mutations in the…”
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Pure sensory neuropathy in primary Sjögren's syndrome. Longterm prospective followup and review of the literature by FONT, Josep, RAMOS-CASALS, Manuel, INGELMO, Miguel, GRAUS, Francesc, DE LA RED, Gloria, POU, Adolf, CASANOVA, Arnau, GARCIA-CARRASCO, Mario, CERVERA, Ricard, MOLINA, José A, VALLS, Josep, BOVE, Albert

“…To study the clinical course, response to therapy, and longterm outcome of pure sensory neuropathy (PSN) in a series of patients with primary Sjögren's…”
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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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Clinical and myopathological evaluation of early- and late-onset subtypes of myofibrillar myopathy by Olivé i Plana, Montserrat, Odgerel, Zagaa, Martínez, Amaia, Poza, Juan José, García Bragado, Federico, Zabalza, Ramón J, Jericó, Ivonne, González Mera, Laura, Shatunov, Alexei, Lee, Hee Suk, Armstrong i Morón, Judith, Maraví, Elías, Ramos Arroyo, María, Pascual Calvet, Jordi, Navarro, Carmen, Paradas, Carmen, Huerta, Mariano, Márquez, Fabian, Gutierrez Rivas, Eduardo, Pou, Adolf, Ferrer, Isidro (Ferrer Abizanda), Goldfarb, Lev G

“…Myofibrillar myopathies (MFM) are a group of disorders associated with mutations in DES, CRY A B, M YOT, ZASP, FLNC, or BAG3 genes and characterized by…”
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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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Phenotypic patterns of desminopathy associated with three novel mutations in the desmin gene by Olivé i Plana, Montserrat, Armstrong i Morón, Judith, Miralles, Francesc, Pou, Adolf, Fardeau, Michel, González Mera, Laura, Martínez, Francesca, Fisher, Dirk, Martínez Matos, Juan Antonio, Shatunov, Alexey, Goldfardb, Lev, Ferrer, Isidro (Ferrer Abizanda)

“…Desminopathy represents a subgroup of myofibrillar myopathies caused by mutations in the desmin gene. Three novel disease-associated mutations in the desmin…”
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Intracerebral haemorrhage in AIDS by Roquer, J, Palomeras, E, Knobel, H, Pou, A

“…We report 8 patients with the acquired immunodeficiency syndrome (AIDS) and intracerebral haemorrhage. There were 7 men and 1 woman (mean age 37.2 years) with…”
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Pure sensory neuropathy in primary Sjögren's syndrome. Longterm prospective followup and review of the literature by Josep Font, Manuel Ramos-Casals, Gloria de la Red, Adolf Pou, Arnau Casanova, Mario García-Carrasco, Ricard Cervera, José A Molina, Josep Valls, Albert BovÃ, Miguel Ingelmo, Francesc Graus

“…OBJECTIVE: To study the clinical course, response to therapy, and longterm outcome of pure sensory neuropathy (PSN) in a series of patients with primary…”
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Multiple endocrine involvement in two pediatric patients with Kearns-Sayre syndrome by Artuch, R, Pavía, C, Playán, A, Vilaseca, M A, Colomer, J, Valls, C, Rissech, M, González, M A, Pou, A, Briones, P, Montoya, J, Pineda, M

“…We present 2 cases of progressively severe Kearns-Sayre syndrome (KSS) with multisystemic affectation and atypical endocrine and cutaneous features, a…”
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Normal proprioceptive trigeminal afferents in patients with Sjögren's syndrome and sensory neuronopathy by Valls-Sole, J, Graus, F, Font, J, Pou, A, Tolosa, E S

“…A pure sensory neuropathy due to neuronal damage in the gasserian and spinal ganglia has been described in patients with Sjögren's syndrome. Conventional…”
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Sensory neuronopathy and Sjögren's syndrome: clinical and immunologic study of two patients by GRAUS, F, POU, A, KANTEREWICZ, E, ANDERSON, N. E

“…In two patients, a sensory neuronopathy was the initial presentation of Sjögren's syndrome. There was no systemic or peripheral nerve vasculitis…”
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Sensory neuronopathy and Sjögren's syndrome: Clinical and immunologic study Of two patients by Graus, Fransesc, Pou, Adolf, Kanterewicz, Eduardo, Anderson, Neil E.

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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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