Mutations in CNTNAP1 and ADCY6 are responsible for severe arthrogryposis multiplex congenita with axoglial defects

Human Molecular Genetics

Volumn 23, Issue 9, 2014, Pages 2279-2289

  Laquérriere, Annie ^a   Maluenda, Jérome ^b,c   Camus, Adrien ^b,c   Fontenas, Laura ^b,c   Dieterich, Klaus ^b,d   Nolent, Flora ^b,c   Zhou, Jié ^b,c   Monnier, Nicole ^e   Latour, Philippe ^f   Gentil, Damien ^a   Héron, Delphine ^g   Desguerres, Isabelle ^h   Landrieu, Pierre ^c   Beneteau, Claire ⁱ   Delaporte, Benoit ^j   Bellesme, Céline ^k   Baumann, Clarisse ^l   Capri, Yline ^l   Goldenberg, Alice ^m   Lyonnet, Stanislas ⁿ   Bonneau, Dominique ^o,p   Estournet, Brigitte ^q   Quijano Roy, Susana ^q   Francannet, Christine ^r   Odent, Sylvie ^s   Saint Frison, Marie Hélène ^t   Sigaudy, Sabine ^u   Figarella Branger, Dominique ^v   Gelot, Antoinette ^w   Mussini, Jean Marie ^x   Lacroix, Catherine ^k   Drouin Garraud, Valerie ^m   Malinge, Marie Claire ^o   Attié Bitach, Tania ⁿ   Bessieres, Bettina ^h   Bonniere, Maryse ^h   Encha Razavi, Ferechte ^h   Beaufrère, Anne Marie ^y   Khung Savatovsky, Suonary ^l   JoséPerez, Marie ^z   Vasiljevic, Alexandre ^f   Mercier, Sandra ⁱ   Roume, Joelle ^aa   Trestard, Laetitia ^ab   Saugier Veber, Pascale ^m   Cordier, Marie Pierre ^f   Layet, Valérie ^j   Legendre, Marine ^ac   Vigouroux Castera, Adeline ^ad   Lunardi, Joel ^e   Bayes, Monica ^ae   Jouk, Pierre S ^d   Rigonnot, Luc ^af   Granier, Michèle ^ag   Sternberg, Damien ^g   Warszawski, Josiane ^ah   Gut, Ivo ^ae   Gonzales, Marie ^w   Tawk, Marcel ^b,c   Melki, Judith ^b,c,k   more..

^a UNIVERSITY OF ROUEN   (France)

^b Universite Paris Sud   (France)

^c UNIVERSITÉ PARIS SACLAY   (France)

^d GRENOBLE INSTITUT DES NEUROSCIENCES   (France)

^e GRENOBLE UNIVERSITY HOSPITAL   (France)

^f HOSPICES CIVILS DE LYON   (France)

^g PITIÉ SALPÊTRIÈRE HOSPITAL   (France)

^h HÔPITAL NECKER ENFANTS MALADES   (France)

ⁱ UNIVERSITÉ DE NANTES   (France)

^j Service de Pé diatrie Néonatale Unité de Génétique Médicale et Cytogéné tique   (France)

^k BICÊTRE HOSPITAL   (France)

^l HÔPITAL ROBERT DEBRÉ   (France)

^m ROUEN UNIVERSITY HOSPITAL   (France)

ⁿ UNIVERSITÉ PARIS DESCARTES   (France)

^o ANGERS UNIVERSITY HOSPITAL   (France)

^p INSERM   (France)

^q Service de Pé diatrie et Réanimation infantile Hopitalm R Poincaré   (France)

^r Unité de GénétiqueMé dicale CHUClermont Ferrand   (France)

^s UNIVERSITÉ DE RENNES 1   (France)

^t CENTRE HOSPITALIER VICTOR DUPOUY   (France)

^u TIMONE HOSPITAL   (France)

^v Service d'anatomie pathologique et de neuropathologie   (France)

^w SORBONNE UNIVERSITÉ   (France)

^x NANTES UNIVERSITY HOSPITAL   (France)

^y UNIVERSITY HOSPITAL OF CLERMONT FERRAND   (France)

^z MONTPELLIER UNIVERSITY HOSPITAL   (France)

^aa CENTRE HOSPITALIER INTERCOMMUNAL   (France)

^ab Belvedere Hospital   (France)

^ac POITIERS UNIVERSITY HOSPITAL   (France)

^ad TOULOUSE UNIVERSITY HOSPITAL   (France)

^ae France 38Centro Nacional de Aná lisis Genómico   (Spain)

^af CENTRE HOSPITALIER SUD FRANCILIEN   (France)

^ag Service de Médecine Néonatale CHSF   (France)

^ah CENTRE FOR RESEARCH IN EPIDEMIOLOGY AND POPULATION HEALTH   (France)

more..

Author keywords

[No Author keywords available]

Indexed keywords

ADENYLATE CYCLASE; ADENYLATE CYCLASE 6; CYCLIC AMP; GENOMIC DNA; MYELIN; UNCLASSIFIED DRUG; ADENYLYL CYCLASE 6; CNTNAP1 PROTEIN, HUMAN; NERVE CELL ADHESION MOLECULE;

ACTION POTENTIAL; ADCY6 GENE; ARTHROGRYPOSIS; ARTICLE; CLINICAL FEATURE; CNTNAP1 GENE; ENZYME SYNTHESIS; FETUS; FRAMESHIFT MUTATION; GENE; GENE IDENTIFICATION; GENE MUTATION; HUMAN; HUMAN TISSUE; IN VITRO STUDY; MAJOR CLINICAL STUDY; MOTOR NERVE CONDUCTION; NEUROMUSCULAR DISEASE; NEWBORN; NUCLEOTIDE SEQUENCE; PERIPHERAL NERVOUS SYSTEM; PHENOTYPE; PRIORITY JOURNAL; SCHWANN CELL; SCIATIC NERVE; SEQUENCE ANALYSIS; TRANSMISSION ELECTRON MICROSCOPY; UPREGULATION; FEMALE; GENETIC PREDISPOSITION; GENETICS; MALE; METABOLISM; MUTATION; MYELIN SHEATH; NERVE FIBER; PATHOLOGY; PREGNANCY; ULTRASTRUCTURE;

ADENYLATE CYCLASE; ARTHROGRYPOSIS; AXONS; CELL ADHESION MOLECULES, NEURONAL; FEMALE; GENETIC PREDISPOSITION TO DISEASE; HUMANS; MALE; MICROSCOPY, ELECTRON, TRANSMISSION; MUTATION; MYELIN SHEATH; PERIPHERAL NERVOUS SYSTEM; PREGNANCY; SCHWANN CELLS;

EID: 84897487902     PISSN: 09646906     EISSN: 14602083     Source Type: Journal    
DOI: 10.1093/hmg/ddt618     Document Type: Article

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