Full name :
First name :
Mail :
Zip Code :
City :
Country :
Email :
Phone :
Fax :
Website :
Directory :
| Title : The transgenic expression of LARGE exacerbates the muscle phenotype of dystroglycanopathy mice - Whitmore_2014_Hum.Mol.Genet_23_1842 |
| Author(s) : Whitmore C , Fernandez-Fuente M , Booler H , Parr C , Kavishwar M , Ashraf A , Lacey E , Kim J , Terry R , Ackroyd MR , Wells KE , Muntoni F , Wells DJ , Brown SC |
| Ref : Hum Mol Genet , 23 :1842 , 2014 |
| Abstract : Whitmore_2014_Hum.Mol.Genet_23_1842 |
| ESTHER : Whitmore_2014_Hum.Mol.Genet_23_1842 |
| PubMedSearch : Whitmore_2014_Hum.Mol.Genet_23_1842 |
| PubMedID: 24234655 |
| Title : Congenital myasthenic syndrome with tubular aggregates caused by GFPT1 mutations - Guergueltcheva_2012_J.Neurol_259_838 |
| Author(s) : Guergueltcheva V , Muller JS , Dusl M , Senderek J , Oldfors A , Lindbergh C , Maxwell S , Colomer J , Mallebrera CJ , Nascimento A , Vilchez JJ , Muelas N , Kirschner J , Nafissi S , Kariminejad A , Nilipour Y , Bozorgmehr B , Najmabadi H , Rodolico C , Sieb JP , Schlotter B , Schoser B , Herrmann R , Voit T , Steinlein OK , Najafi A , Urtizberea A , Soler DM , Muntoni F , Hanna MG , Chaouch A , Straub V , Bushby K , Palace J , Beeson D , Abicht A , Lochmuller H |
| Ref : Journal of Neurology , 259 :838 , 2012 |
| Abstract : Guergueltcheva_2012_J.Neurol_259_838 |
| ESTHER : Guergueltcheva_2012_J.Neurol_259_838 |
| PubMedSearch : Guergueltcheva_2012_J.Neurol_259_838 |
| PubMedID: 21975507 |
| Title : Impaired neuromuscular transmission and response to acetylcholinesterase inhibitors in centronuclear myopathies - Robb_2011_Neuromuscul.Disord_21_379 |
| Author(s) : Robb SA , Sewry CA , Dowling JJ , Feng L , Cullup T , Lillis S , Abbs S , Lees MM , Laporte J , Manzur AY , Knight RK , Mills KR , Pike MG , Kress W , Beeson D , Jungbluth H , Pitt MC , Muntoni F |
| Ref : Neuromuscular Disorders , 21 :379 , 2011 |
| Abstract : Robb_2011_Neuromuscul.Disord_21_379 |
| ESTHER : Robb_2011_Neuromuscul.Disord_21_379 |
| PubMedSearch : Robb_2011_Neuromuscul.Disord_21_379 |
| PubMedID: 21440438 |
| Title : A comparative study of alpha-dystroglycan glycosylation in dystroglycanopathies suggests that the hypoglycosylation of alpha-dystroglycan does not consistently correlate with clinical severity - Jimenez-Mallebrera_2009_Brain.Pathol_19_596 |
| Author(s) : Jimenez-Mallebrera C , Torelli S , Feng L , Kim J , Godfrey C , Clement E , Mein R , Abbs S , Brown SC , Campbell KP , Kroger S , Talim B , Topaloglu H , Quinlivan R , Roper H , Childs AM , Kinali M , Sewry CA , Muntoni F |
| Ref : Brain Pathology , 19 :596 , 2009 |
| Abstract : Jimenez-Mallebrera_2009_Brain.Pathol_19_596 |
| ESTHER : Jimenez-Mallebrera_2009_Brain.Pathol_19_596 |
| PubMedSearch : Jimenez-Mallebrera_2009_Brain.Pathol_19_596 |
| PubMedID: 18691338 |
| Title : Functional requirements for fukutin-related protein in the Golgi apparatus - Esapa_2002_Hum.Mol.Genet_11_3319 |
| Author(s) : Esapa CT , Benson MA , Schroder JE , Martin-Rendon E , Brockington M , Brown SC , Muntoni F , Kroger S , Blake DJ |
| Ref : Hum Mol Genet , 11 :3319 , 2002 |
| Abstract : Esapa_2002_Hum.Mol.Genet_11_3319 |
| ESTHER : Esapa_2002_Hum.Mol.Genet_11_3319 |
| PubMedSearch : Esapa_2002_Hum.Mol.Genet_11_3319 |
| PubMedID: 12471058 |