Author details
Author Martin J |
Available item(s) by this author (10)
sorted by (Issue date descending, Issue date descending, System of projection of the document ascending) | Add the result to the basket | Make a suggestion | Refine your search
Article
Soder SA ; Pollock C ; Ferraro P ; Lafontaine E ; Martin J ; Nasir B ; Liberman M | United States | 25/11/2021Article
Gerhalter T, Author ; Gerhalter T ; Gast LV ; Marty B ; Martin J ; Trollmann R ; Schussler S ; Roemer F ; Laun FB ; Uder M ; Schröder R ; Carlier PG ; Nagel AM | 2019Article
Fontaine JM ; Simon S ; Hoppe A ; Carra S ; De Guzman C ; Martin J ; Landry J ; Welsh M ; Benndorf R | 2008Eight mutations in the small heat shock proteins (sHSP) Hsp22 and Hsp27 have been associated with the motor neuron diseases (MND) distal hereditary motor neuropathy and Charcot-Marie-Tooth disease. Hsp22 and Hsp27 interact with each other, sugge[...]Article
Congrès international de myologie 2008 (International Congress of Myology 2008; 26-30 mai 2008; Marseille, France) ; Simon S ; Fontaine JM ; Martin J ; Sun X ; Hoppe A ; Welsh M ; Benndorf R | 2008Three mutations (R120G, Q151X, 464?CT) in the small heat shock protein (sHsp) ?B-crystallin (?BC) have been found to cause inherited myofibrillar myopathy (Selcen and Engel, 2003; Vicart et al., 1998). ?BC forms homo-dimers, hetero-dimers with o[...]Article
Congrès international de myologie 2008 (International Congress of Myology 2008; 26-30 mai 2008; Marseille, France) ; Röder I ; Lissandron V ; Martin J ; Choi K ; Zaccolo M ; Rudolf R | 2008Fragmentation of the neuromuscular junction (NMJ) and a dramatically shortened halflife of the acetylcholine receptor are hallmarks of dystrophic mdx muscle. Since cyclic AMP (cAMP) mediated signalling is thought to be important for aspects of N[...]Article
Congrès international de myologie 2005 (International Congress of Myology 2005; 9-13 mai 2005; Nantes, France) ; van Parijs V ; van Goethem G ; Martin J ; van den Bergh P | 2005Communication n° 317. Autosomal dominant progressive external opththalmoplegia (adPEO) is characterized by ptosis and weakness of the extraocular muscles. Mutations within several nuclear genes (ANT1, C10orf2, POLG) were recently discovered to b[...]Article
Article
Lavau-Denes S ; Genet D ; Venat-Bouvet L ; Martin J ; Labourey JL ; Tubiana-Mathieu N | 2004Article
Anand P ; Parrett A ; Martin J ; Zeman S ; Foley P ; Swash M ; Leigh PN ; Cedarbaum JM ; Lindsay RM ; Williams-Chestnut RE ; Sinicropi DV | 1995