Búsqueda | Portal de Búsqueda de la BVS España

1.

Titin copy number variations associated with dominant inherited phenotypes.

Perrin, Aurélien; Métay, Corinne; Savarese, Marco; Ben Yaou, Rabah; Demidov, German; Nelson, Isabelle; Solé, Guilhem; Péréon, Yann; Bertini, Enrico Silvio; Fattori, Fabiana; D'Amico, Adele; Ricci, Federica; Ginsberg, Mira; Seferian, Andreea; Boespflug-Tanguy, Odile; Servais, Laurent; Chapon, Françoise; Lagrange, Emmeline; Gaudon, Karen; Bloch, Adrien; Ghanem, Robin; Guyant-Maréchal, Lucie; Johari, Mridul; Van Goethem, Charles; Fardeau, Michel; Morales, Raul Juntas; Genetti, Casie A; Marttila, Minttu; Koenig, Michel; Beggs, Alan H; Udd, Bjarne; Bonne, Gisèle; Cossée, Mireille.

J Med Genet; 61(4): 369-377, 2024 Mar 21.

Artículo en Inglés | MEDLINE | ID: mdl-37935568

2.

VMA21 deficiency causes an autophagic myopathy by compromising V-ATPase activity and lysosomal acidification.

Ramachandran, Nivetha; Munteanu, Iulia; Wang, Peixiang; Aubourg, Pauline; Rilstone, Jennifer J; Israelian, Nyrie; Naranian, Taline; Paroutis, Paul; Guo, Ray; Ren, Zhi-Ping; Nishino, Ichizo; Chabrol, Brigitte; Pellissier, Jean-Francois; Minetti, Carlo; Udd, Bjarne; Fardeau, Michel; Tailor, Chetankumar S; Mahuran, Don J; Kissel, John T; Kalimo, Hannu; Levy, Nicolas; Manolson, Morris F; Ackerley, Cameron A; Minassian, Berge A.

Cell; 137(2): 235-46, 2009 Apr 17.

Artículo en Inglés | MEDLINE | ID: mdl-19379691

3.

ACTN2 mutations cause "Multiple structured Core Disease" (MsCD).

Lornage, Xavière; Romero, Norma B; Grosgogeat, Claire A; Malfatti, Edoardo; Donkervoort, Sandra; Marchetti, Michael M; Neuhaus, Sarah B; Foley, A Reghan; Labasse, Clémence; Schneider, Raphaël; Carlier, Robert Y; Chao, Katherine R; Medne, Livija; Deleuze, Jean-François; Orlikowski, David; Bönnemann, Carsten G; Gupta, Vandana A; Fardeau, Michel; Böhm, Johann; Laporte, Jocelyn.

Acta Neuropathol; 137(3): 501-519, 2019 03.

Artículo en Inglés | MEDLINE | ID: mdl-30701273

4.

Sarcomeric disorganization and nemaline bodies in muscle biopsies of patients with EXOSC3-related type 1 pontocerebellar hypoplasia.

Pinto, Miguel M; Monges, Soledad; Malfatti, Edoardo; Lubieniecki, Fabiana; Lornage, Xavière; Alias, Laura; Labasse, Clémence; Madelaine, Angéline; Fardeau, Michel; Laporte, Jocelyn; Tizzano, Eduardo F; Romero, Norma B.

Muscle Nerve; 59(1): 137-141, 2019 01.

Artículo en Inglés | MEDLINE | ID: mdl-30025162

5.

Recessive MYPN mutations cause cap myopathy with occasional nemaline rods.

Lornage, Xavière; Malfatti, Edoardo; Chéraud, Chrystel; Schneider, Raphaël; Biancalana, Valérie; Cuisset, Jean-Marie; Garibaldi, Matteo; Eymard, Bruno; Fardeau, Michel; Boland, Anne; Deleuze, Jean-François; Thompson, Julie; Carlier, Robert-Yves; Böhm, Johann; Romero, Norma B; Laporte, Jocelyn.

Ann Neurol; 81(3): 467-473, 2017 Mar.

Artículo en Inglés | MEDLINE | ID: mdl-28220527

6.

Affected female carriers of MTM1 mutations display a wide spectrum of clinical and pathological involvement: delineating diagnostic clues.

Biancalana, Valérie; Scheidecker, Sophie; Miguet, Marguerite; Laquerrière, Annie; Romero, Norma B; Stojkovic, Tanya; Abath Neto, Osorio; Mercier, Sandra; Voermans, Nicol; Tanner, Laura; Rogers, Curtis; Ollagnon-Roman, Elisabeth; Roper, Helen; Boutte, Célia; Ben-Shachar, Shay; Lornage, Xavière; Vasli, Nasim; Schaefer, Elise; Laforet, Pascal; Pouget, Jean; Moerman, Alexandre; Pasquier, Laurent; Marcorelle, Pascale; Magot, Armelle; Küsters, Benno; Streichenberger, Nathalie; Tranchant, Christine; Dondaine, Nicolas; Schneider, Raphael; Gasnier, Claire; Calmels, Nadège; Kremer, Valérie; Nguyen, Karine; Perrier, Julie; Kamsteeg, Erik Jan; Carlier, Pierre; Carlier, Robert-Yves; Thompson, Julie; Boland, Anne; Deleuze, Jean-François; Fardeau, Michel; Zanoteli, Edmar; Eymard, Bruno; Laporte, Jocelyn.

Acta Neuropathol; 134(6): 889-904, 2017 Dec.

Artículo en Inglés | MEDLINE | ID: mdl-28685322

7.

Dihydropyridine receptor (DHPR, CACNA1S) congenital myopathy.

Schartner, Vanessa; Romero, Norma B; Donkervoort, Sandra; Treves, Susan; Munot, Pinki; Pierson, Tyler Mark; Dabaj, Ivana; Malfatti, Edoardo; Zaharieva, Irina T; Zorzato, Francesco; Abath Neto, Osorio; Brochier, Guy; Lornage, Xavière; Eymard, Bruno; Taratuto, Ana Lía; Böhm, Johann; Gonorazky, Hernan; Ramos-Platt, Leigh; Feng, Lucy; Phadke, Rahul; Bharucha-Goebel, Diana X; Sumner, Charlotte Jane; Bui, Mai Thao; Lacene, Emmanuelle; Beuvin, Maud; Labasse, Clémence; Dondaine, Nicolas; Schneider, Raphael; Thompson, Julie; Boland, Anne; Deleuze, Jean-François; Matthews, Emma; Pakleza, Aleksandra Nadaj; Sewry, Caroline A; Biancalana, Valérie; Quijano-Roy, Susana; Muntoni, Francesco; Fardeau, Michel; Bönnemann, Carsten G; Laporte, Jocelyn.

Acta Neuropathol; 133(4): 517-533, 2017 04.

Artículo en Inglés | MEDLINE | ID: mdl-28012042

8.

Constitutive activation of the calcium sensor STIM1 causes tubular-aggregate myopathy.

Böhm, Johann; Chevessier, Frédéric; Maues De Paula, André; Koch, Catherine; Attarian, Shahram; Feger, Claire; Hantaï, Daniel; Laforêt, Pascal; Ghorab, Karima; Vallat, Jean-Michel; Fardeau, Michel; Figarella-Branger, Dominique; Pouget, Jean; Romero, Norma B; Koch, Marc; Ebel, Claudine; Levy, Nicolas; Krahn, Martin; Eymard, Bruno; Bartoli, Marc; Laporte, Jocelyn.

Am J Hum Genet; 92(2): 271-8, 2013 Feb 07.

Artículo en Inglés | MEDLINE | ID: mdl-23332920

9.

Cylindrical spirals associated with severe congenital muscle weakness and epileptic encephalopathy.

Malfatti, Edoardo; Chaves, Marcelo; Bellance, Remi; Viou, Mai Thao; Sarrazin, Elisabeth; Fardeau, Michel; Romero, Norma B.

Muscle Nerve; 52(5): 895-9, 2015 Nov.

Artículo en Inglés | MEDLINE | ID: mdl-25959956

10.

Adult-onset autosomal dominant centronuclear myopathy due to BIN1 mutations.

Böhm, Johann; Biancalana, Valérie; Malfatti, Edoardo; Dondaine, Nicolas; Koch, Catherine; Vasli, Nasim; Kress, Wolfram; Strittmatter, Matthias; Taratuto, Ana Lia; Gonorazky, Hernan; Laforêt, Pascal; Maisonobe, Thierry; Olivé, Montse; Gonzalez-Mera, Laura; Fardeau, Michel; Carrière, Nathalie; Clavelou, Pierre; Eymard, Bruno; Bitoun, Marc; Rendu, John; Fauré, Julien; Weis, Joachim; Mandel, Jean-Louis; Romero, Norma B; Laporte, Jocelyn.

Brain; 137(Pt 12): 3160-70, 2014 Dec.

Artículo en Inglés | MEDLINE | ID: mdl-25260562

11.

Clinical, histological and genetic characterisation of patients with tubular aggregate myopathy caused by mutations in STIM1.

Böhm, Johann; Chevessier, Frédéric; Koch, Catherine; Peche, G Arielle; Mora, Marina; Morandi, Lucia; Pasanisi, Barbara; Moroni, Isabella; Tasca, Giorgio; Fattori, Fabiana; Ricci, Enzo; Pénisson-Besnier, Isabelle; Nadaj-Pakleza, Aleksandra; Fardeau, Michel; Joshi, Pushpa Raj; Deschauer, Marcus; Romero, Norma Beatriz; Eymard, Bruno; Laporte, Jocelyn.

J Med Genet; 51(12): 824-33, 2014 Dec.

Artículo en Inglés | MEDLINE | ID: mdl-25326555

12.

Autosomal dominant eccentric core disease caused by a heterozygous mutation in the MYH7 gene.

Romero, Norma B; Xie, Ting; Malfatti, Edoardo; Schaeffer, Ursula; Böhm, Johann; Wu, Bin; Xu, Fengping; Boucebci, Samy; Mathis, Stéphane; Neau, Jean-Philippe; Monnier, Nicole; Fardeau, Michel; Laporte, Jocelyn.

J Neurol Neurosurg Psychiatry; 85(10): 1149-52, 2014 Oct.

Artículo en Inglés | MEDLINE | ID: mdl-24828896

13.

Mutations in dynamin 2 cause dominant centronuclear myopathy.

Bitoun, Marc; Maugenre, Svetlana; Jeannet, Pierre-Yves; Lacène, Emmanuelle; Ferrer, Xavier; Laforêt, Pascal; Martin, Jean-Jacques; Laporte, Jocelyn; Lochmüller, Hanns; Beggs, Alan H; Fardeau, Michel; Eymard, Bruno; Romero, Norma B; Guicheney, Pascale.

Nat Genet; 37(11): 1207-9, 2005 Nov.

Artículo en Inglés | MEDLINE | ID: mdl-16227997

14.

[Congenital myasthenic syndromes; French experience]. / Syndromes myasthéniques congénitaux - L'expérience française.

Eymard, Bruno; Hantaï, Daniel; Fournier, Emmanuel; Nicole, Sophie; Sternberg, Damien; Richard, Pascale; Fardeau, Michel.

Bull Acad Natl Med; 198(2): 257-70; discussion 270-1, 2014 Feb.

Artículo en Francés | MEDLINE | ID: mdl-26263703

15.

VMA21 deficiency prevents vacuolar ATPase assembly and causes autophagic vacuolar myopathy.

Ramachandran, Nivetha; Munteanu, Iulia; Wang, Peixiang; Ruggieri, Alessandra; Rilstone, Jennifer J; Israelian, Nyrie; Naranian, Taline; Paroutis, Paul; Guo, Ray; Ren, Zhi-Ping; Nishino, Ichizo; Chabrol, Brigitte; Pellissier, Jean-Francois; Minetti, Carlo; Udd, Bjarne; Fardeau, Michel; Tailor, Chetankumar S; Mahuran, Don J; Kissel, John T; Kalimo, Hannu; Levy, Nicolas; Manolson, Morris F; Ackerley, Cameron A; Minassian, Berge A.

Acta Neuropathol; 125(3): 439-57, 2013 Mar.

Artículo en Inglés | MEDLINE | ID: mdl-23315026

16.

Identification of an agrin mutation that causes congenital myasthenia and affects synapse function.

Huzé, Caroline; Bauché, Stéphanie; Richard, Pascale; Chevessier, Frédéric; Goillot, Evelyne; Gaudon, Karen; Ben Ammar, Asma; Chaboud, Annie; Grosjean, Isabelle; Lecuyer, Heba-Aude; Bernard, Véronique; Rouche, Andrée; Alexandri, Nektaria; Kuntzer, Thierry; Fardeau, Michel; Fournier, Emmanuel; Brancaccio, Andrea; Rüegg, Markus A; Koenig, Jeanine; Eymard, Bruno; Schaeffer, Laurent; Hantaï, Daniel.

Am J Hum Genet; 85(2): 155-67, 2009 Aug.

Artículo en Inglés | MEDLINE | ID: mdl-19631309

17.

COL4A1 mutations and hereditary angiopathy, nephropathy, aneurysms, and muscle cramps.

Plaisier, Emmanuelle; Gribouval, Olivier; Alamowitch, Sonia; Mougenot, Béatrice; Prost, Catherine; Verpont, Marie Christine; Marro, Béatrice; Desmettre, Thomas; Cohen, Salomon Yves; Roullet, Etienne; Dracon, Michel; Fardeau, Michel; Van Agtmael, Tom; Kerjaschki, Dontscho; Antignac, Corinne; Ronco, Pierre.

N Engl J Med; 357(26): 2687-95, 2007 Dec 27.

Artículo en Inglés | MEDLINE | ID: mdl-18160688

18.

[Not Available]. / Séance dédiée aux muscles. INTRODUCTION.

Fardeau, Michel.

Bull Acad Natl Med; 199(1): 19-20, 2015 Jan.

Artículo en Francés | MEDLINE | ID: mdl-27236874

19.

The clinical, histologic, and genotypic spectrum of SEPN1-related myopathy: A case series.

Villar-Quiles, Rocio N; von der Hagen, Maja; Métay, Corinne; Gonzalez, Victoria; Donkervoort, Sandra; Bertini, Enrico; Castiglioni, Claudia; Chaigne, Denys; Colomer, Jaume; Cuadrado, Maria Luz; de Visser, Marianne; Desguerre, Isabelle; Eymard, Bruno; Goemans, Nathalie; Kaindl, Angela; Lagrue, Emmanuelle; Lütschg, Jürg; Malfatti, Edoardo; Mayer, Michèle; Merlini, Luciano; Orlikowski, David; Reuner, Ulrike; Salih, Mustafa A; Schlotter-Weigel, Beate; Stoetter, Mechthild; Straub, Volker; Topaloglu, Haluk; Urtizberea, J Andoni; van der Kooi, Anneke; Wilichowski, Ekkehard; Romero, Norma B; Fardeau, Michel; Bönnemann, Carsten G; Estournet, Brigitte; Richard, Pascale; Quijano-Roy, Susana; Schara, Ulrike; Ferreiro, Ana.

Neurology; 95(11): e1512-e1527, 2020 09 15.

Artículo en Inglés | MEDLINE | ID: mdl-32796131

20.

"Necklace" fibers, a new histological marker of late-onset MTM1-related centronuclear myopathy.

Bevilacqua, Jorge A; Bitoun, Marc; Biancalana, Valérie; Oldfors, Anders; Stoltenburg, Gisela; Claeys, Kristl G; Lacène, Emmanuelle; Brochier, Guy; Manéré, Linda; Laforêt, Pascal; Eymard, Bruno; Guicheney, Pascale; Fardeau, Michel; Romero, Norma Beatriz.

Acta Neuropathol; 117(3): 283-91, 2009 Mar.

Artículo en Inglés | MEDLINE | ID: mdl-19084976

Portal de Búsqueda de la BVS España

Información y Conocimiento para la Salud

Configurar filtros

Su selección (0)

Formato de exportación:

Exportar: