1 - 25 of 70 results for author:"Richard P." in Literature citations
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| L-xylo-3-hexulose reductase is the missing link in the oxidoreductive pathway for D-galactose catabolism in filamentous fungi. Mojzita D., Herold S., Metz B., Seiboth B., Richard P. J. Biol. Chem. 287:26010-26018(2012) · UniProtKB (2) |
| Cloning of two genes (LAT1,2) encoding specific L: -arabinose transporters of the L: -arabinose fermenting yeast Ambrosiozyma monospora. Verho R., Penttila M., Richard P. Appl. Biochem. Biotechnol. 164:604-611(2011) · UniProtKB (2) · Mapped (8) |
| Senataxin mutations and amyotrophic lateral sclerosis. Hirano M., Quinzii C.M., Mitsumoto H., Hays A.P., Roberts J.K., Richard P., Rowland L.P. Amyotroph Lateral Scler 12:223-227(2011) · Mapped (2) |
| Early onset collagen VI myopathies: Genetic and clinical correlations. Brinas L., Richard P., Quijano-Roy S., Gartioux C., Ledeuil C., Lacene E., Makri S., Ferreiro A., Maugenre S., Topaloglu H. et al. Ann. Neurol. 68:511-520(2010) · Mapped (6) |
| Multiexon deletions account for 15% of congenital myasthenic syndromes with RAPSN mutations after negative DNA sequencing. Gaudon K., Penisson-Besnier I., Chabrol B., Bouhour F., Demay L., Ben Ammar A., Bauche S., Vial C., Nicolas G., Eymard B. et al. J. Med. Genet. 47:795-796(2010) · Mapped (1) |
| Saccharomyces cerevisiae engineered to produce D-xylonate. Toivari M.H., Ruohonen L., Richard P., Penttila M., Wiebe M.G. Appl. Microbiol. Biotechnol. 88:751-760(2010) · Mapped (2) |
| Desmin myopathy with severe cardiomyopathy in a Uruguayan family due to a codon deletion in a new location within the desmin 1A rod domain. Vernengo L., Chourbagi O., Panuncio A., Lilienbaum A., Batonnet-Pichon S., Bruston F., Rodrigues-Lima F., Mesa R., Pizzarossa C., Demay L. et al. Neuromuscul. Disord. 20:178-187(2010) · Mapped (13) |
| Phenotype genotype analysis in 15 patients presenting a congenital myasthenic syndrome due to mutations in DOK7. Ben Ammar A., Petit F., Alexandri N., Gaudon K., Bauche S., Rouche A., Gras D., Fournier E., Koenig J., Stojkovic T. et al. |
| Clinical and mutational spectrum of limb-girdle muscular dystrophy type 2I in 11 French patients. Bourteel H., Vermersch P., Cuisset J.M., Maurage C.A., Laforet P., Richard P., Stojkovic T. J. Neurol. Neurosurg. Psychiatr. 80:1405-1408(2009) · Mapped (1) |
| Identification of an agrin mutation that causes congenital myasthenia and affects synapse function. Huze C., Bauche S., Richard P., Chevessier F., Goillot E., Gaudon K., Ben Ammar A., Chaboud A., Grosjean I., Lecuyer H.A. et al. Am. J. Hum. Genet. 85:155-167(2009) · UniProtKB (1) · Mapped (3) |
| Transcription termination by nuclear RNA polymerases. Richard P., Manley J.L. Genes Dev. 23:1247-1269(2009) · Mapped (47) |
| A new polymorphism in human calmodulin III gene promoter is a potential modifier gene for familial hypertrophic cardiomyopathy. Friedrich F.W., Bausero P., Sun Y., Treszl A., Kramer E., Juhr D., Richard P., Wegscheider K., Schwartz K., Brito D. et al. Eur. Heart J. 30:1648-1655(2009) · Mapped (1) |
| Clinical outcome in 19 French and Spanish patients with valosin-containing protein myopathy associated with Paget's disease of bone and frontotemporal dementia. Stojkovic T., Hammouda e.l. H., Richard P., Lopez de Munain A., Ruiz-Martinez J., Camano P., Gonzalez P.C., Laforet P., Penisson-Besnier I., Ferrer X. et al. Neuromuscul. Disord. 19:316-323(2009) · Mapped (6) |
| Differential involvement of sarcomeric proteins in myofibrillar myopathies: a morphological and immunohistochemical study. Claeys K.G., van der Ven P.F., Behin A., Stojkovic T., Eymard B., Dubourg O., Laforet P., Faulkner G., Richard P., Vicart P. et al. Acta Neuropathol. 117:293-307(2009) · Mapped (6) |
| Striking phenotypic variability in two familial cases of myosin storage myopathy with a MYH7 Leu1793pro mutation. Uro-Coste E., Arne-Bes M.C., Pellissier J.F., Richard P., Levade T., Heitz F., Figarella-Branger D., Delisle M.B. Neuromuscul. Disord. 19:163-166(2009) · Mapped (6) |
| Germinal mosaicism for LMNA mimics autosomal recessive congenital muscular dystrophy. Makri S., Clarke N.F., Richard P., Maugenre S., Demay L., Bonne G., Guicheney P. Neuromuscul. Disord. 19:26-28(2009) · Mapped (11) |
| A mutation in the SEPN1 selenocysteine redefinition element (SRE) reduces selenocysteine incorporation and leads to SEPN1-related myopathy. Maiti B., Arbogast S., Allamand V., Moyle M.W., Anderson C.B., Richard P., Guicheney P., Ferreiro A., Flanigan K.M., Howard M.T. Hum. Mutat. 30:411-416(2009) · UniProtKB (1) |
| The CHRNE 1293insG founder mutation is a frequent cause of congenital myasthenia in North Africa. Richard P., Gaudon K., Haddad H., Ammar A.B., Genin E., Bauche S., Paturneau-Jouas M., Muller J.S., Lochmuller H., Grid D. et al. Neurology 71:1967-1972(2008) · Mapped (2) |
| Heart-hand syndrome of Slovenian type: a new kind of laminopathy. Renou L., Stora S., Yaou R.B., Volk M., Sinkovec M., Demay L., Richard P., Peterlin B., Bonne G. J. Med. Genet. 45:666-671(2008) · UniProtKB (1) · Mapped (10) |
| De novo LMNA mutations cause a new form of congenital muscular dystrophy. Quijano-Roy S., Mbieleu B., Bonnemann C.G., Jeannet P.Y., Colomer J., Clarke N.F., Cuisset J.M., Roper H., De Meirleir L., D'Amico A. et al. |
| A familial form of conduction defects associated with a PRKAG2 gene mutation. Pochmalicki G., Genest M., Richard P., Komajda M., Charron P. Arch Mal Coeur Vaiss 100:760-765(2007) · Mapped (3) |
| Identification in the mould Hypocrea jecorina of a gene encoding an NADP(+): d-xylose dehydrogenase. Berghall S., Hilditch S., Penttila M., Richard P. FEMS Microbiol. Lett. 277:249-253(2007) · UniProtKB (1) |
| Protein O-mannosyltransferase activities in lymphoblasts from patients with alpha-dystroglycanopathies. Manya H., Bouchet C., Yanagisawa A., Vuillaumier-Barrot S., Quijano-Roy S., Suzuki Y., Maugenre S., Richard P., Inazu T., Merlini L. et al. Neuromuscul. Disord. 18:45-51(2008) · Mapped (15) |
| Metabolic engineering of Saccharomyces cerevisiae for conversion of D-glucose to xylitol and other five-carbon sugars and sugar alcohols. Toivari M.H., Ruohonen L., Miasnikov A.N., Richard P., Penttila M. Appl. Environ. Microbiol. 73:5471-5476(2007) · Mapped (5) |
| The missing link in the fungal D-galacturonate pathway: identification of the L-threo-3-deoxy-hexulosonate aldolase. Hilditch S., Berghall S., Kalkkinen N., Penttila M., Richard P. J. Biol. Chem. 282:26195-26201(2007) · UniProtKB (1) |