Ausgabe 1/2011
Inhalt (89 Artikel)
Molecular analysis and intestinal expression of SAR1 genes and proteins in Anderson's disease (Chylomicron retention disease)
Amandine Georges, Jessica Bonneau, Dominique Bonnefont-Rousselot, Jacqueline Champigneulle, Jean P Rabès, Marianne Abifadel, Thomas Aparicio, Jean C Guenedet, Eric Bruckert, Catherine Boileau, Alain Morali, Mathilde Varret, Lawrence P Aggerbeck, Marie E Samson-Bouma
Genome-wide analysis of Ollier disease: Is it all in the genes?
Twinkal C Pansuriya, Jan Oosting, Tibor Krenács, Antonie HM Taminiau, Suzan HM Verdegaal, Luca Sangiorgi, Raf Sciot, Pancras CW Hogendoorn, Karoly Szuhai, Judith VMG Bovée
Respective implications of glutamate decarboxylase antibodies in stiff person syndrome and cerebellar ataxia
Mario U Manto, Christiane S Hampe, Véronique Rogemond, Jérome Honnorat
Sensory and motor neuronopathy in a patient with the A382P TDP-43 mutation
Jean-Philippe Camdessanché, Véronique V Belzil, Guillemette Jousserand, Guy A Rouleau, Christelle Créac'h, Philippe Convers, Jean-Christophe Antoine
Erratum To:Clinical and genetic characterization of chanarin-dorfman syndrome patients: first report of large deletions in the ABHD5 gene
Chiara Redaelli, Rosalind A Coleman, Laura Moro, Amalia Sertedaki, Talia Kakourou, Solaf Mohamed Elsayed, Daniele Prati, Agostino Colli, Donatella Mela, Roberto Colombo, Daniela Tavian
Prenatal manifestation and management of a mother and child affected by spondyloperipheral dysplasia with a C-propeptide mutation in COL2A1: case report
Maria Francesca Bedeschi, Vera Bianchi, Barbara Gentilin, Lorenzo Colombo, Federica Natacci, Sabrina Giglio, Elena Andreucci, Laura Trespidi, Barbara Acaia, Andrea Superti Furga, Faustina Lalatta
Autosomal recessive cerebellar ataxia caused by mutations in the PEX2 gene
Caroline Sevin, Sacha Ferdinandusse, Hans R Waterham, Ronald J Wanders, Patrick Aubourg
Utero-vaginal aplasia (Mayer-Rokitansky-Küster-Hauser syndrome) associated with deletions in known DiGeorge or DiGeorge-like loci
Karine Morcel, Tanguy Watrin, Laurent Pasquier, Lucie Rochard, Cédric Le Caignec, Christèle Dubourg, Philippe Loget, Bernard-Jean Paniel, Sylvie Odent, Véronique David, Isabelle Pellerin, Claude Bendavid, Daniel Guerrier
Lack of a synergistic effect of a non-viral ALS gene therapy based on BDNF and a TTC fusion molecule
Ana C Calvo, María Moreno-Igoa, Renzo Mancuso, Raquel Manzano, Sara Oliván, María J Muñoz, Clara Penas, Pilar Zaragoza, Xavier Navarro, Rosario Osta
Mortality associated with neurofibromatosis type 1: A study based on Italian death certificates (1995-2006)
Maria Masocco, Yllka Kodra, Monica Vichi, Susanna Conti, Mark Kanieff, Monica Pace, Luisa Frova, Domenica Taruscio
Cholestasis in patients with Cockayne syndrome and suggested modified criteria for clinical diagnosis
Tawhida Y Abdel Ghaffar, Ezzat S Elsobky, Solaf M Elsayed
Microarray based analysis of an inherited terminal 3p26.3 deletion, containing only the CHL1 gene, from a normal father to his two affected children
Cristina Cuoco, Patrizia Ronchetto, Stefania Gimelli, Frédérique Béna, Maria Teresa Divizia, Margherita Lerone, Marisol Mirabelli-Badenier, Monica Mascaretti, Giorgio Gimelli
Efficacy of alpha1-antitrypsin augmentation therapy in conditions other than pulmonary emphysema
Ignacio Blanco, Beatriz Lara, Frederick de Serres
Mortality Associated with Neurofibromatosis 1: A Cohort Study of 1895 Patients in 1980-2006 in France
Tu Anh Duong, Emilie Sbidian, Laurence Valeyrie-Allanore, Cédric Vialette, Salah Ferkal, Smaïl Hadj-Rabia, Christophe Glorion, Stanislas Lyonnet, Michel Zerah, Isabelle Kemlin, Diana Rodriguez, Sylvie Bastuji-Garin, Pierre Wolkenstein
Complex chromosome rearrangements related 15q14 microdeletion plays a relevant role in phenotype expression and delineates a novel recurrent syndrome
Maria Cristina Roberti, Cecilia Surace, Maria Cristina Digilio, Gemma D'Elia, Pietro Sirleto, Rossella Capolino, Antonietta Lombardo, Anna Cristina Tomaiuolo, Stefano Petrocchi, Adriano Angioni
Limitations of drug registries to evaluate orphan medicinal products for the treatment of lysosomal storage disorders
Carla EM Hollak, Johannes MFG Aerts, Ségolène Aymé, Jeremy Manuel
MR spectroscopy-based brain metabolite profiling in propionic acidaemia: metabolic changes in the basal ganglia during acute decompensation and effect of liver transplantation
James E Davison, Nigel P Davies, Martin Wilson, Yu Sun, Anupam Chakrapani, Patrick J McKiernan, John H Walter, P Gissen, Andrew C Peet
Clinical and animal research findings in pycnodysostosis and gene mutations of cathepsin K from 1996 to 2011
Yang Xue, Tao Cai, Songtao Shi, Weiguang Wang, Yanli Zhang, Tianqiu Mao, Xiaohong Duan
Congenitally corrected transposition
Gonzalo A Wallis, Diane Debich-Spicer, Robert H Anderson
Safety and caregiver satisfaction with gastrostomy in patients with Ataxia Telangiectasia
Maureen A Lefton-Greif, Thomas O Crawford, Sharon McGrath-Morrow, Kathryn A Carson, Howard M Lederman
Glucose-6-phosphatase deficiency
Roseline Froissart, Monique Piraud, Alix Mollet Boudjemline, Christine Vianey-Saban, François Petit, Aurélie Hubert-Buron, Pascale Trioche Eberschweiler, Vincent Gajdos, Philippe Labrune
Population pharmacokinetics and pharmacodynamics of hydroxyurea in sickle cell anemia patients, a basis for optimizing the dosing regimen
Ines Paule, Hind Sassi, Anoosha Habibi, Kim PD Pham, Dora Bachir, Frédéric Galactéros, Pascal Girard, Anne Hulin, Michel Tod
Parental risk factors and anorectal malformations: systematic review and meta-analysis
Nadine Zwink, Ekkehart Jenetzky, Hermann Brenner
Epithelial thymic tumours in paediatric age: a report from the TREP project
Elena Carretto, Alessandro Inserra, Andrea Ferrari, Massimo Conte, Andrea Di Cataldo, Roberta Migliorati, Giovanni Cecchetto, Gianni Bisogno
A combination of transcriptome and methylation analyses reveals embryologically-relevant candidate genes in MRKH patients
Katharina Rall, Gianmaria Barresi, Michael Walter, Sven Poths, Karina Haebig, Karin Schaeferhoff, Birgitt Schoenfisch, Olaf Riess, Diethelm Wallwiener, Michael Bonin, Sara Brucker
Autosomal dominant cerebellar ataxia type I: A review of the phenotypic and genotypic characteristics
Nathaniel Robb Whaley, Shinsuke Fujioka, Zbigniew K Wszolek
Machado-Joseph Disease: from first descriptions to new perspectives
Conceição Bettencourt, Manuela Lima
Pontine tegmental cap dysplasia: developmental and cognitive outcome in three adolescent patients
Marilena Briguglio, Lorenzo Pinelli, Lucio Giordano, Alessandro Ferraris, Eva Germanò, Serena Micheletti, Mariasavina Severino, Laura Bernardini, Sara Loddo, Gaetano Tortorella, Francesca Ormitti, Roberto Gasparotti, Andrea Rossi, Enza Maria Valente
Autosomal recessive primary microcephaly (MCPH): clinical manifestations, genetic heterogeneity and mutation continuum
Saqib Mahmood, Wasim Ahmad, Muhammad J Hassan
Complete exon sequencing of all known Usher syndrome genes greatly improves molecular diagnosis
Crystel Bonnet, M'hamed Grati, Sandrine Marlin, Jacqueline Levilliers, Jean-Pierre Hardelin, Marine Parodi, Magali Niasme-Grare, Diana Zelenika, Marc Délépine, Delphine Feldmann, Laurence Jonard, Aziz El-Amraoui, Dominique Weil, Bruno Delobel, Christophe Vincent, Hélène Dollfus, Marie-Madeleine Eliot, Albert David, Catherine Calais, Jacqueline Vigneron, Bettina Montaut-Verient, Dominique Bonneau, Jacques Dubin, Christel Thauvin, Alain Duvillard, Christine Francannet, Thierry Mom, Didier Lacombe, Françoise Duriez, Valérie Drouin-Garraud, Marie-Françoise Thuillier-Obstoy, Sabine Sigaudy, Anne-Marie Frances, Patrick Collignon, Georges Challe, Rémy Couderc, Mark Lathrop, José-Alain Sahel, Jean Weissenbach, Christine Petit, Françoise Denoyelle
Molecular Genetic Analysis of the PLP1 Gene in 38 Families with PLP1-related disorders: Identification and Functional Characterization of 11 Novel PLP1 Mutations
Serena Grossi, Stefano Regis, Roberta Biancheri, Matthew Mort, Susanna Lualdi, Enrico Bertini, Graziella Uziel, Odile Boespflug-Tanguy, Alessandro Simonati, Fabio Corsolini, Ercan Demir, Valentina Marchiani, Antonio Percesepe, Franco Stanzial, Andrea Rossi, Catherine Vaurs-Barrière, David N Cooper, Mirella Filocamo
Development of an ELISA for sensitive and specific detection of IgA autoantibodies against BP180 in pemphigoid diseases
Kinga Csorba, Sabine Schmidt, Florina Florea, Norito Ishii, Takashi Hashimoto, Michael Hertl, Sarolta Kárpáti, Leena Bruckner-Tuderman, Wataru Nishie, Cassian Sitaru
Congenital neutropenia: diagnosis, molecular bases and patient management
Jean Donadieu, Odile Fenneteau, Blandine Beaupain, Nizar Mahlaoui, Christine Bellanné Chantelot
Ichthyosis follicularis, alopecia, and photophobia (IFAP) syndrome
Hala Mégarbané, André Mégarbané
Cognitive development in patients with Mucopolysaccharidosis type III (Sanfilippo syndrome)
Marlies J Valstar, Jan Pieter Marchal, Martha Grootenhuis, Vivian Colland, Frits A Wijburg
Pricing and reimbursement of orphan drugs: the need for more transparency
Steven Simoens
"MY PKU": increasing self-management in patients with phenylketonuria. A randomized controlled trial
Amber E ten Hoedt, Carla EM Hollak, Carolien CA Boelen, N Ada P van der Herberg-van de Wetering, Nienke M ter Horst, Cora F Jonkers, Frits A Wijburg, Annet M Bosch
Survival and associated factors in 268 adults with Pompe disease prior to treatment with enzyme replacement therapy
Deniz Güngör, Juna M de Vries, Wim CJ Hop, Arnold JJ Reuser, Pieter A van Doorn, Ans T van der Ploeg, Marloes LC Hagemans
TRPV4 related skeletal dysplasias: a phenotypic spectrum highlighted byclinical, radiographic, and molecular studies in 21 new families
Elena Andreucci, Salim Aftimos, Melanie Alcausin, Eric Haan, Warwick Hunter, Peter Kannu, Bronwyn Kerr, George McGillivray, RJ McKinlay Gardner, Maria G Patricelli, David Sillence, Elizabeth Thompson, Margaret Zacharin, Andreas Zankl, Shireen R Lamandé, Ravi Savarirayan
9q22 Deletion - First Familial Case
Linda Siggberg, Maarit Peippo, Marjatta Sipponen, Taina Miikkulainen, Keiko Shimojima, Toshiyuki Yamamoto, Jaakko Ignatius, Sakari Knuutila
Phenotypic variability of the kyphoscoliotic type of Ehlers-Danlos syndrome (EDS VIA): clinical, molecular and biochemical delineation
Marianne Rohrbach, Anthony Vandersteen, Uluç Yiş, Gul Serdaroglu, Esra Ataman, Maya Chopra, Sixto Garcia, Kristi Jones, Ariana Kariminejad, Marius Kraenzlin, Carlo Marcelis, Matthias Baumgartner, Cecilia Giunta
Mutation spectrum of MLL2 in a cohort of kabuki syndrome patients
Lucia Micale, Bartolomeo Augello, Carmela Fusco, Angelo Selicorni, Maria N Loviglio, Margherita Cirillo Silengo, Alexandre Reymond, Barbara Gumiero, Federica Zucchetti, Ester V D'Addetta, Elga Belligni, Alessia Calcagnì, Maria C Digilio, Bruno Dallapiccola, Francesca Faravelli, Francesca Forzano, Maria Accadia, Aldo Bonfante, Maurizio Clementi, Cecilia Daolio, Sofia Douzgou, Paola Ferrari, Rita Fischetto, Livia Garavelli, Elisabetta Lapi, Teresa Mattina, Daniela Melis, Maria G Patricelli, Manuela Priolo, Paolo Prontera, Alessandra Renieri, Maria A Mencarelli, Gioacchino Scarano, Matteo della Monica, Benedetta Toschi, Licia Turolla, Alessandra Vancini, Adriana Zatterale, Orazio Gabrielli, Leopoldo Zelante, Giuseppe Merla
Efficacy and outcome of expanded newborn screening for metabolic diseases - Report of 10 years from South-West Germany *
Martin Lindner, Gwendolyn Gramer, Gisela Haege, Junmin Fang-Hoffmann, Karl O Schwab, Uta Tacke, Friedrich K Trefz, Eugen Mengel, Udo Wendel, Michael Leichsenring, Peter Burgard, Georg F Hoffmann
Oxytocin may be useful to increase trust in others and decrease disruptive behaviours in patients with Prader-Willi syndrome: a randomised placebo-controlled trial in 24 patients
Maïthe Tauber, Carine Mantoulan, Pierre Copet, Joseba Jauregui, Genevieve Demeer, Gwenaëlle Diene, Bernadette Rogé, Virginie Laurier, Virginie Ehlinger, Catherine Arnaud, Catherine Molinas, Denise Thuilleaux
Incidence, Phenotypic Features and Molecular Genetics of Kallmann Syndrome in Finland
Eeva-Maria Laitinen, Kirsi Vaaralahti, Johanna Tommiska, Elina Eklund, Mari Tervaniemi, Leena Valanne, Taneli Raivio
The potential investment impact of improved access to accelerated approval on the development of treatments for low prevalence rare diseases
Brigitta E Miyamoto, Emil D Kakkis
At-Risk Phenotype of Neurofibromatose-1 Patients: A Multicentre Case-Control Study
Emilie Sbidian, Sylvie Bastuji-Garin, Laurence Valeyrie-Allanore, Salah Ferkal, Jean P Lefaucheur, Alain Drouet, Pierre Brugière, Cédric Vialette, Patrick Combemale, Sébastien Barbarot, Pierre Wolkenstein
Classification, diagnosis and potential mechanisms in Pontocerebellar Hypoplasia
Yasmin Namavar, Peter G Barth, Bwee Tien Poll-The, Frank Baas
Evaluation of SHOX copy number variations in patients with Müllerian aplasia
Maria Sandbacka, Mervi Halttunen, Varpu Jokimaa, Kristiina Aittomäki, Hannele Laivuori
Enzyme replacement therapy and/or hematopoietic stem cell transplantation at diagnosis in patients with mucopolysaccharidosis type I: results of a European consensus procedure
Minke H de Ru, Jaap J Boelens, Anibh M Das, Simon A Jones, Johanna H van der Lee, Nizar Mahlaoui, Eugen Mengel, Martin Offringa, Anne O'Meara, Rossella Parini, Attilio Rovelli, Karl-Walter Sykora, Vassili Valayannopoulos, Ashok Vellodi, Robert F Wynn, Frits A Wijburg
Awakening Australia to Rare Diseases: Symposium report and preliminary outcomes
Hugh JS Dawkins, Caron M Molster, Leanne M Youngs, Peter C O'Leary
Two new Rett syndrome families and review of the literature: expanding the knowledge of MECP2 frameshift mutations
Kirstine Ravn, Gitte Roende, Morten Duno, Kathrine Fuglsang, Kristin L Eiklid, Zeynep Tümer, Jytte B Nielsen, Ola H Skjeldal
Genome-wide association study of Stevens-Johnson Syndrome and Toxic Epidermal Necrolysis in Europe
Emmanuelle Génin, Martin Schumacher, Jean-Claude Roujeau, Luigi Naldi, Yvonne Liss, Rémi Kazma, Peggy Sekula, Alain Hovnanian, Maja Mockenhaupt
Understanding the impact of 1q21.1 copy number variant
Chansonette Harvard, Emma Strong, Eloi Mercier, Rita Colnaghi, Diana Alcantara, Eva Chow, Sally Martell, Christine Tyson, Monica Hrynchak, Barbara McGillivray, Sara Hamilton, Sandra Marles, Aziz Mhanni, Angelika J Dawson, Paul Pavlidis, Ying Qiao, Jeanette J Holden, Suzanne ME Lewis, Mark O'Driscoll, Evica Rajcan-Separovic
Does market exclusivity hinder the development of Follow-on Orphan Medicinal Products in Europe?
Anne EM Brabers, Ellen HM Moors, Sonja van Weely, Remco LA de Vrueh
Reducing selection bias in case-control studies from rare disease registries
J Alexander Cole, John S Taylor, Thomas N Hangartner, Neal J Weinreb, Pramod K Mistry, Aneal Khan
Estimating the budget impact of orphan medicines in Europe: 2010 - 2020
Carina Schey, Tsveta Milanova, Adam Hutchings
Population-based evaluation of a suggested anatomic and clinical classification of congenital heart defects based on the International Paediatric and Congenital Cardiac Code
Lucile Houyel, Babak Khoshnood, Robert H Anderson, Nathalie Lelong, Anne-Claire Thieulin, François Goffinet, Damien Bonnet
Congenital hyperinsulinism: current trends in diagnosis and therapy
Jean-Baptiste Arnoux, Virginie Verkarre, Cécile Saint-Martin, Françoise Montravers, Anaïs Brassier, Vassili Valayannopoulos, Francis Brunelle, Jean-Christophe Fournet, Jean-Jacques Robert, Yves Aigrain, Christine Bellanné-Chantelot, Pascale de Lonlay
Mutational screening of the USH2A gene in Spanish USH patients reveals 23 novel pathogenic mutations
Gema Garcia-Garcia, Maria J Aparisi, Teresa Jaijo, Regina Rodrigo, Ana M Leon, Almudena Avila-Fernandez, Fiona Blanco-Kelly, Sara Bernal, Rafael Navarro, Manuel Diaz-Llopis, Montserrat Baiget, Carmen Ayuso, Jose M Millan, Elena Aller
Therapy of Fabry disease with pharmacological chaperones: from in silico predictions to in vitro tests
Giuseppina Andreotti, Valentina Citro, Agostina De Crescenzo, Pierangelo Orlando, Marco Cammisa, Antonella Correra, Maria Vittoria Cubellis
Consequences of a global enzyme shortage of agalsidase beta in adult Dutch Fabry patients
Bouwien E Smid, Saskia M Rombach, Johannes MFG Aerts, Symen Kuiper, Mina Mirzaian, Hermen S Overkleeft, Ben JHM Poorthuis, Carla EM Hollak, Johanna EM Groener, Gabor E Linthorst
Mucopolysaccharidosis type II: European recommendations for the diagnosis and multidisciplinary management of a rare disease
Maurizio Scarpa, Zsuzsanna Almássy, Michael Beck, Olaf Bodamer, Iain A Bruce, Linda De Meirleir, Nathalie Guffon, Encarna Guillén-Navarro, Pauline Hensman, Simon Jones, Wolfgang Kamin, Christoph Kampmann, Christina Lampe, Christine A Lavery, Elisa Leão Teles, Bianca Link, Allan M Lund, Gunilla Malm, Susanne Pitz, Michael Rothera, Catherine Stewart, Anna Tylki-Szymańska, Ans van der Ploeg, Robert Walker, Jiri Zeman, James E Wraith
The hyperimmunoglobulin E syndrome - clinical manifestation diversity in primary immune deficiency
Aleksandra Szczawinska-Poplonyk, Zdzislawa Kycler, Barbara Pietrucha, Edyta Heropolitanska-Pliszka, Anna Breborowicz, Karolina Gerreth
Ancient founder mutation is responsible for Imerslund-Gräsbeck Syndrome among diverse ethnicities
Cameron M Beech, Sandya Liyanarachchi, Nidhi P Shah, Amy C Sturm, May F Sadiq, Albert de la Chapelle, Stephan M Tanner
Spinal muscular atrophy
Adele D'Amico, Eugenio Mercuri, Francesco D Tiziano, Enrico Bertini
Sporadic and genetic forms of paediatric somatotropinoma: a retrospective analysis of seven cases and a review of the literature
Cécile Nozières, Pascale Berlier, Clémentine Dupuis, Catherine Raynaud-Ravni, Yves Morel, Françoise Borson Chazot, Marc Nicolino
Exon duplications in the ATP7A gene: Frequency and Transcriptional Behaviour
Mie Mogensen, Tina Skjørringe, Hiroko Kodama, Kenneth Silver, Nina Horn, Lisbeth B Møller
Benefits, challenges and obstacles of adaptive clinical trial designs
Shein-Chung Chow, Ralph Corey
Coordinated multidisciplinary care for ambulatory Huntington's disease patients. Evaluation of 18 months of implementation
Ruth B Veenhuizen, Branda Kootstra, Wilma Vink, Janneke Posthumus, Pleuntje van Bekkum, Margriet Zijlstra, Jelleke Dokter
Fibrodysplasia Ossificans Progressiva: Clinical and Genetic Aspects
Robert J Pignolo, Eileen M Shore, Frederick S Kaplan
Population pharmacokinetics and pharmacodynamics of cysteamine in nephropathic cystinosis patients
Naïm Bouazza, Jean-Marc Tréluyer, Chris Ottolenghi, Saik Urien, Georges Deschenes, Daniel Ricquier, Patrick Niaudet, Bernadette Chadefaux-Vekemans
Osteogenesis imperfecta: the audiological phenotype lacks correlation with the genotype
Freya KR Swinnen, Paul J Coucke, Anne M De Paepe, Sofie Symoens, Fransiska Malfait, Filomena V Gentile, Luca Sangiorgi, Patrizia D'Eufemia, Mauro Celli, Ton JTM Garretsen, Cor WRJ Cremers, Ingeborg JM Dhooge, Els MR De Leenheer
Congenital Dyserythropoietic Anemia Type II: molecular analysis and expression of the SEC23B Gene
Francesca Punzo, Aida M Bertoli-Avella, Saverio Scianguetta, Fulvio Della Ragione, Maddalena Casale, Luisa Ronzoni, Maria D Cappellini, Gianluca Forni, Ben A Oostra, Silverio Perrotta
5'UTR mutations of ENG cause hereditary hemorrhagic telangiectasia
Kristy Damjanovich, Carmen Langa, Francisco J Blanco, Jamie McDonald, Luisa M Botella, Carmelo Bernabeu, Whitney Wooderchak-Donahue, David A Stevenson, Pinar Bayrak-Toydemir
Biomarker analysis of Morquio syndrome: identification of disease state and drug responsive markers
Lisa Martell, Kelly Lau, Miranda Mei, Vicki Burnett, Celeste Decker, Erik D Foehr
Anderson's disease/chylomicron retention disease in a Japanese patient with uniparental disomy 7 and a normal SAR1B gene protein coding sequence
Tomoo Okada, Michio Miyashita, Junji Fukuhara, Masahiko Sugitani, Takahiro Ueno, Marie-Elisabeth Samson-Bouma, Lawrence P Aggerbeck
Efficacy of vinblastine in central nervous system Langerhans cell histiocytosis: a nationwide retrospective study
Sophie Ng Wing Tin, Nadine Martin-Duverneuil, Ahmed Idbaih, Catherine Garel, Maria Ribeiro, Judith Landman Parker, Anne-Sophie Defachelles, Anne Lambilliotte, Mohamed Barkaoui, Martine Munzer, Martine Gardembas, Jean Sibilia, Patrick Lutz, Renato Fior, Michel Polak, Alain Robert, Olivier Aumaitre, Dominique Plantaz, Corinne Armari-Alla, Thierry Genereau, Perrine Marec Berard, Ghislain Nokam Talom, Jean-Loup Pennaforte, Hubert Ducou Le Pointe, Marie-Anne Barthez, Gérard Couillault, Julien Haroche, Karima Mokhtari, Jean Donadieu, Khê Hoang-Xuan
Lidocaine for systemic sclerosis: a double-blind randomized clinical trial
Rachel Riera, Luís EC Andrade, Alexandre WS Souza, Cristiane Kayser, Edison T Yanagita, Virgínia FM Trevisani
A locus-specific database for mutations in GDAP1 allows analysis of genotype-phenotype correlations in Charcot-Marie-Tooth diseases type 4A and 2K
Julien Cassereau, Arnaud Chevrollier, Dominique Bonneau, Christophe Verny, Vincent Procaccio, Pascal Reynier, Marc Ferré