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TWINKLE gene mutation: report of a French family with an autosomal dominant progressive external ophthalmoplegia and literature review.
Published in:
European Journal of Neurology, 2011, v. 18, n. 3, p. 436, doi. 10.1111/j.1468-1331.2010.03171.x
By:
- Martin-Negrier, M.-L.;
- Sole, G.;
- Jardel, C.;
- Vital, C.;
- Ferrer, X.;
- Vital, A.
Publication type:
Article
Phenotype genotype analysis in 15 patients presenting a congenital myasthenic syndrome due to mutations in DOK7.
Published in:
Journal of Neurology, 2010, v. 257, n. 5, p. 754, doi. 10.1007/s00415-009-5405-y
By:
- Ammar, A. Ben;
- Petit, F.;
- Alexandri, N.;
- Gaudon, K.;
- Bauché, S.;
- Rouche, A.;
- Gras, D.;
- Fournier, E.;
- Koenig, J.;
- Stojkovic, T.;
- Lacour, A.;
- Petiot, P.;
- Zagnoli, F.;
- Viollet, L.;
- Pellegrini, N.;
- Orlikowski, D.;
- Lazaro, L.;
- Ferrer, X.;
- Stoltenburg, G.;
- Paturneau-Jouas, M.
Publication type:
Article
Dissolved organic metabolite extraction from high‐salt media.
Published in:
NMR in Biomedicine, 2023, v. 36, n. 4, p. 1, doi. 10.1002/nbm.4797
By:
- Holderman, Nicole R.;
- Ferrer‐González, Frank X.;
- Glushka, John;
- Moran, Mary Ann;
- Edison, Arthur S.
Publication type:
Article
Involvement of respiratory muscles in adult-onset dystonia: A clinical and electrophysiological study.
Published in:
Movement Disorders, 1995, v. 10, n. 6, p. 708, doi. 10.1002/mds.870100603
By:
- Lagueny, A.;
- Burbaud, P.;
- Le Masson, G.;
- Bergouignan, F. X.;
- Ferrer, X.;
- Julien, J.
Publication type:
Article
Productivity as the main factor correlating with migratory behaviour in the evolutionary history of warblers.
Published in:
Journal of Zoology, 2018, v. 306, n. 3, p. 197, doi. 10.1111/jzo.12598
By:
- Ponti, R.;
- Arcones, A.;
- Ferrer, X.;
- Vieites, D. R.
Publication type:
Article
Malignant infiltration of peripheral nerves in the course of acute myelomonoblastic leukaemia: neuropathological study of two cases.
Published in:
Neuropathology & Applied Neurobiology, 1993, v. 19, n. 2, p. 159, doi. 10.1111/j.1365-2990.1993.tb00422.x
By:
- Vital, A.;
- Vital, C.;
- Ellie, E.;
- Ferrer, X.;
- Lagueny, A.;
- Ferrer, A. M.;
- Broustet, A.;
- Gbikpi-Benissan, G.
Publication type:
Article
Severe axonal polyneuropathy with onset in the postpartum period.
Published in:
Acta Neurologica Scandinavica, 1994, v. 89, n. 4, p. 303, doi. 10.1111/j.1600-0404.1994.tb01685.x
By:
- Vital, A.;
- Larrivière, M.;
- Lagueny, A.;
- Ellie, E.;
- Ferrer, X.;
- Dupon, M.;
- Barat, M.;
- Mazaux, J. M.
Publication type:
Article
The Ocean's labile DOC supply chain.
Published in:
Limnology & Oceanography, 2022, v. 67, n. 5, p. 1007, doi. 10.1002/lno.12053
By:
- Moran, Mary Ann;
- Ferrer‐González, Frank X.;
- Fu, He;
- Nowinski, Brent;
- Olofsson, Malin;
- Powers, McKenzie A.;
- Schreier, Jeremy E.;
- Schroer, William F.;
- Smith, Christa B.;
- Uchimiya, Mario
Publication type:
Article
LGMD2A: genotype-phenotype correlations based on a large mutational survey on the calpain 3 gene.
Published in:
2005
By:
- Sáenz A;
- Leturcq F;
- Cobo AM;
- Poza JJ;
- Ferrer X;
- Otaegui D;
- Camaño P;
- Urtasun M;
- Vílchez J;
- Gutiérrez-Rivas E;
- Emparanza J;
- Merlini L;
- Paisán C;
- Goicoechea M;
- Blázquez L;
- Eymard B;
- Lochmuller H;
- Walter M;
- Bonnemann C;
- Figarella-Branger D
Publication type:
Journal Article
LGMD2A: genotype–phenotype correlations based on a large mutational survey on the calpain 3 gene.
Published in:
Brain: A Journal of Neurology, 2005, v. 128, n. 4, p. 732
By:
- A. Sáenz;
- F. Leturcq;
- A. M. Cobo;
- J. J. Poza;
- X. Ferrer;
- D. Otaegui;
- P. Camaño;
- M. Urtasun;
- J. Vílchez;
- E. Gutiérrez-Rivas;
- J. Emparanza;
- L. Merlini;
- C. Paisán;
- M. Goicoechea;
- L. Blázquez;
- B. Eymard;
- H. Lochmuller;
- M. Walter;
- C. Bonnemann;
- D. Figarella-Branger
Publication type:
Article
Central nervous system disease in patients with macrophagic myofasciitis.
Published in:
2001
By:
- Authier, F J;
- Cherin, P;
- Creange, A;
- Bonnotte, B;
- Ferrer, X;
- Abdelmoumni, A;
- Ranoux, D;
- Pelletier, J;
- Figarella-Branger, D;
- Granel, B;
- Maisonobe, T;
- Coquet, M;
- Degos, J D;
- Gherardi, R K
Publication type:
journal article
CAPN3 mutations in patients with idiopathic eosinophilic myositis.
Published in:
2006
By:
- Krahn M;
- Lopez De Munain A;
- Streichenberger N;
- Bernard R;
- Pécheux C;
- Testard H;
- Pena-Segura JL;
- Yoldi E;
- Cabello A;
- Romero NB;
- Poza JJ;
- Bouillot-Eimer S;
- Ferrer X;
- Goicoechea M;
- Garcia-Bragado F;
- Leturcq F;
- Urtizberea JA;
- Lévy N
Publication type:
Journal Article
Spanish University Postgraduate Training on Addictions: The Historic Development and its Current Situation.
Published in:
Addictology / Adiktologie, 2023, n. 4, p. 293, doi. 10.35198/01-2023-004-0006
By:
- FERRER, X.;
- SIERRA, E.;
- ASPA, J.;
- SOLANAS, A.;
- AMATLLER, O.;
- OVEJERO, M.;
- SANDOVAL, P.;
- CALVO, F.
Publication type:
Article
Gender-Based Violence among Women who Use Drugs: A Quantitative and Qualitative Study in 6 EU Countries.
Published in:
Addictology / Adiktologie, 2023, n. 2, p. 107, doi. 10.35198/01-2023-001-0004
By:
- PLAZA-HERNÁNDEZ, L.;
- HANSEN RODRIGUEZ, G.;
- BEDOYA CARDONA, E.;
- FERRER PÉREZ, X.;
- RAMOS RIVERA, J.
Publication type:
Article
The Master's in Drug Dependence at the University of Barcelona: Historical Perspective and Future Challenges.
Published in:
Addictology / Adiktologie, 2021, v. 21, n. 4, p. 229, doi. 10.35198/01-2021-004-0002
By:
- FERRER, X.;
- SIERRA, E.;
- SOLANAS, A.;
- AMATLLER, O.;
- ASPA, J.;
- OVEJERO, M.;
- CALVO, F.
Publication type:
Article
Novel mutations in DNAJB6 cause LGMD1D and distal myopathy in French families.
Published in:
European Journal of Neurology, 2018, v. 25, n. 5, p. 790, doi. 10.1111/ene.13598
By:
- Jonson, P. H.;
- Palmio, J.;
- Johari, M.;
- Penttil#228;, S.;
- Evil#228;, A.;
- Nelson, I.;
- Bonne, G.;
- Wiart, N.;
- Meyer, V.;
- Boland, A.;
- Deleuze, J.-F.;
- Masson, C.;
- Stojkovic, T.;
- Chapon, F.;
- Romero, N. B.;
- Sol#233;, G.;
- Ferrer, X.;
- Ferreiro, A.;
- Hackman, P.;
- Richard, I.
Publication type:
Article
Clinical and molecular genetic spectrum of autosomal dominant Emery-Dreifuss muscular dystrophy due to mutations of the lamin A/C gene.
Published in:
Annals of Neurology, 2000, v. 48, n. 2, p. 170, doi. 10.1002/1531-8249(200008)48:2<170::AID-ANA6>3.0.CO;2-J
By:
- Bonne, G.;
- Mercuri, E.;
- Muchir, A.;
- Urtizberea, A.;
- Bécane, H. M.;
- Recan, D.;
- Merlini, L.;
- Wehnert, M.;
- Boor, R.;
- Reuner, U.;
- Vorgerd, M.;
- Wicklein, E. M.;
- Eymard, B.;
- Duboc, D.;
- Penisson-Besnier, I.;
- Cuisset, J. M.;
- Ferrer, X.;
- Desguerre, I.;
- Lacombe, D.;
- Bushby, K.
Publication type:
Article
IgM Demyelinative neuropathy with amyloidosis and biclonal gammopathy.
Published in:
Annals of Neurology, 1984, v. 15, n. 4, p. 395, doi. 10.1002/ana.410150415
By:
- Julien, J.;
- Vital, C.;
- Vallat, J. M.;
- Lagueny, A.;
- Ferrer, X.;
- Deminiere, C.;
- Leboutet, M. J.;
- Effroy, C.
Publication type:
Article
MicroRNA profile in very young women with breast cancer
Published in:
BMC Cancer, 2014, v. 14, n. 1, p. 529, doi. 10.1186/1471-2407-14-529
By:
- Peña-Chilet, Maria;
- Martínez, Maria T;
- Pérez-Fidalgo, Jose A;
- Peiró-Chova, Lorena;
- Oltra, Sara S;
- Tormo, Eduardo;
- Elisa Alonso-Yuste, Elisa x;
- Beatriz Martinez-Delgado, Beatriz x;
- Pilar Eroles, Pilar x;
- Joan Climent, Joan x;
- Octavio Burgués, Octavio x;
- Jaime Ferrer-Lozano, Jaime x;
- Bosch, Ana;
- Lluch, Ana;
- Ribas, Gloria
Publication type:
Article
Characterization of novel CAPN3 isoforms in white blood cells: an alternative approach for limb-girdle muscular dystrophy 2A diagnosis.
Published in:
Neurogenetics, 2008, v. 9, n. 3, p. 173, doi. 10.1007/s10048-008-0129-1
By:
- Blázquez, L.;
- Azpitarte, M.;
- Sáenz, A.;
- Goicoechea, M.;
- Otaegui, D.;
- Ferrer, X.;
- Illa, I.;
- Gutierrez-Rivas, E.;
- Vilchez, J.;
- López de Munain, A.
Publication type:
Article
Ultrastructural mitochondrial modifications characteristic of mitofusin 2 mutations (CMT2A)
Published in:
2009
By:
- Sole G;
- Ferrer X;
- Vital C;
- Martin-Negrier M;
- Vital A;
- Latour P
Publication type:
Journal Article
Peripheral neuropathy associated with mitochondrial disorders: 8 cases and review of the literature.
Published in:
Journal of the Peripheral Nervous System, 2002, v. 7, n. 4, p. 213, doi. 10.1046/j.1529-8027.2002.02027.x
By:
- Bouillot, S.;
- Martin-Négrier, M.L.;
- Vital, A.;
- Ferrer, X.;
- Lagueny, A.;
- Vincent, D.;
- Coquet, M.;
- Orgogozo, J.M.;
- Bloch, B.;
- Vital, C.
Publication type:
Article
Chronic inflammatory demyelinating polyneuropathy caused by HIV infection in a patient with asymptomatic CMT 1A.
Published in:
2000
By:
- Rajabally Y;
- Vital A;
- Ferrer X;
- Vital C;
- Julien J;
- Latour P;
- Vandenberghe A;
- Lagueny A
Publication type:
Journal Article

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