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au.\*:("VIOLLET, Louis")

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Paternal Uniparental Isodisomy of Chromosome 6 Causing a Complex Syndrome Including Complete IFN-γ Receptor 1 DeficiencyPRANDO, Carolina; BOISSON-DUPUIS, Stéphanie; QIUPING ZHANG et al.American journal of medical genetics. Part A. 2010, Vol 152, Num 3, pp 622-629, issn 1552-4825, 8 p.Article

A Rare Recessive Distal Hereditary Motor Neuropathy with HSJ1 Chaperone MutationBLUMEN, Sergiu C; ASTORD, Stephanie; BLUMEN, Nava et al.Annals of neurology. 2012, Vol 71, Num 4, pp 509-519, issn 0364-5134, 11 p.Article

Riluzole pharmacokinetics in young patients with spinal muscular atrophyABBARA, Chadi; ESTOURNET, Brigitte; LACOMBLEZ, Lucette et al.British journal of clinical pharmacology. 2011, Vol 71, Num 3, pp 403-410, issn 0306-5251, 8 p.Article

The loss of the snoRNP chaperone Nopp140 from Cajal bodies of patient fibroblasts correlates with the severity of spinal muscular atrophyRENVOISE, Benoit; COLASSE, Sabrina; BURLET, Philippe et al.Human molecular genetics (Print). 2009, Vol 18, Num 7, pp 1181-1189, issn 0964-6906, 9 p.Article

A novel association of the SMN protein with two major non-ribosomal nucleolar proteins and its implication in spinal muscular atrophyLEFEBVRE, Suzie; BURLET, Philippe; VIOLLET, Louis et al.Human molecular genetics (Print). 2002, Vol 11, Num 9, pp 1017-1027, issn 0964-6906Article

De novo mutations in ATP1A3 cause alternating hemiplegia of childhoodHEINZEN, Erin L; SWOBODA, Kathryn J; PANAGIOTAKAKI, Eleni et al.Nature genetics. 2012, Vol 44, Num 9, pp 1030-1034, issn 1061-4036, 5 p.Article

Study of LPIN1, LPIN2 and LPIN3 in rhabdomyolysis and exercise-induced myalgiaMICHOT, Caroline; HUBERT, Laurence; PETERS, Heidi et al.Journal of inherited metabolic disease. 2012, Vol 35, Num 6, pp 1119-1128, issn 0141-8955, 10 p.Article

A sensitive assay for measuring SMN mRNA levels in peripheral blood and in muscle samples of patients affected with spinal muscular atrophyVEZAIN, Myriam; SAUGIER-VEBER, Pascale; BOU, Jacqueline et al.European journal of human genetics. 2007, Vol 15, Num 10, pp 1054-1062, issn 1018-4813, 9 p.Article

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