| Title |
Congenital stridor with feeding difficulty as a presenting symptom
of Dok7 congenital myasthenic syndrome
. |
| Author |
Jephson,C.G., Mills,N.A., Pitt,M.C., Beeson,D., Aloysius,A.,
Muntoni,F., Robb,S.A. and Bailey,C.M.
|
| Journal |
Int. J. Pediatr. Otorhinolaryngol. 74 (9), 991-994 (2010)
|
|
| Title |
The cytoplasmic adaptor protein Dok7 activates the receptor
tyrosine kinase MuSK via dimerization
. |
| Author |
Bergamin,E., Hallock,P.T., Burden,S.J. and Hubbard,S.R.
|
| Journal |
Mol. Cell 39 (1), 100-109 (2010)
|
|
| Title |
DOK7 mutations presenting as a proximal myopathy in French
Canadians
. |
| Author |
Srour,M., Bolduc,V., Guergueltcheva,V., Lochmuller,H., Gendron,D.,
Shevell,M.I., Poulin,C., Mathieu,J., Bouchard,J.P. and Brais,B.
|
| Journal |
Neuromuscul. Disord. 20 (7), 453-457 (2010)
|
|
| Title |
Mutations in MUSK causing congenital myasthenic syndrome impair
MuSK-Dok-7 interaction
. |
| Author |
Maselli,R.A., Arredondo,J., Cagney,O., Ng,J.J., Anderson,J.A.,
Williams,C., Gerke,B.J., Soliven,B. and Wollmann,R.L.
|
| Journal |
Hum. Mol. Genet. 19 (12), 2370-2379 (2010)
|
|
| Title |
Phenotype genotype analysis in 15 patients presenting a congenital
myasthenic syndrome due to mutations in DOK7
. |
| Author |
Ben Ammar,A., Petit,F., Alexandri,N., Gaudon,K., Bauche,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., Hentati,F., Fardeau,M., Sternberg,D.,
Hantai,D., Richard,P. and Eymard,B.
|
| Journal |
J. Neurol. 257 (5), 754-766 (2010)
|
|
| Title |
Variable phenotypes associated with mutations in DOK7
. |
| Author |
Anderson,J.A., Ng,J.J., Bowe,C., McDonald,C., Richman,D.P.,
Wollmann,R.L. and Maselli,R.A.
|
| Journal |
Muscle Nerve 37 (4), 448-456 (2008)
|
|
| Title |
Mutations causing DOK7 congenital myasthenia ablate functional
motifs in Dok-7
. |
| Author |
Hamuro,J., Higuchi,O., Okada,K., Ueno,M., Iemura,S., Natsume,T.,
Spearman,H., Beeson,D. and Yamanashi,Y.
|
| Journal |
J. Biol. Chem. 283 (9), 5518-5524 (2008)
|
|
| Title |
Phenotypical spectrum of DOK7 mutations in congenital myasthenic
syndromes
. |
| Author |
Muller,J.S., Herczegfalvi,A., Vilchez,J.J., Colomer,J.,
Bachinski,L.L., Mihaylova,V., Santos,M., Schara,U., Deschauer,M.,
Shevell,M., Poulin,C., Dias,A., Soudo,A., Hietala,M., Aarimaa,T.,
Krahe,R., Karcagi,V., Huebner,A., Beeson,D., Abicht,A. and
Lochmuller,H.
|
| Journal |
Brain 130 (PT 6), 1497-1506 (2007)
|
|
| Title |
Dok-7 mutations underlie a neuromuscular junction synaptopathy
. |
| Author |
Beeson,D., Higuchi,O., Palace,J., Cossins,J., Spearman,H.,
Maxwell,S., Newsom-Davis,J., Burke,G., Fawcett,P., Motomura,M.,
Muller,J.S., Lochmuller,H., Slater,C., Vincent,A. and Yamanashi,Y.
|
| Journal |
Science 313 (5795), 1975-1978 (2006)
|
|
| Title |
The muscle protein Dok-7 is essential for neuromuscular
synaptogenesis
. |
| Author |
Okada,K., Inoue,A., Okada,M., Murata,Y., Kakuta,S., Jigami,T.,
Kubo,S., Shiraishi,H., Eguchi,K., Motomura,M., Akiyama,T.,
Iwakura,Y., Higuchi,O. and Yamanashi,Y.
|
| Journal |
Science 312 (5781), 1802-1805 (2006)
|
|
