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| Title : A duplication at chromosome 11q12.2-11q12.3 is associated with spinocerebellar ataxia type 20 - Knight_2008_Hum.Mol.Genet_17_3847 |
| Author(s) : Knight MA , Hernandez D , Diede SJ , Dauwerse HG , Rafferty I , van de Leemput J , Forrest SM , Gardner RJ , Storey E , van Ommen GJ , Tapscott SJ , Fischbeck KH , Singleton AB |
| Ref : Hum Mol Genet , 17 :3847 , 2008 |
| Abstract : Knight_2008_Hum.Mol.Genet_17_3847 |
| ESTHER : Knight_2008_Hum.Mol.Genet_17_3847 |
| PubMedSearch : Knight_2008_Hum.Mol.Genet_17_3847 |
| PubMedID: 18801880 |
| Gene_locus related to this paper: human-DAGLA |
| Title : Congenital myasthenic syndromes due to heteroallelic nonsense\/missense mutations in the acetylcholine receptor epsilon subunit gene: identification and functional characterization of six new mutations - Ohno_1997_Hum.Mol.Genet_6_753 |
| Author(s) : Ohno K , Quiram PA , Milone M , Wang HL , Harper MC , Pruitt JN, 2nd , Brengman JM , Pao L , Fischbeck KH , Crawford TO , Sine SM , Engel AG |
| Ref : Hum Mol Genet , 6 :753 , 1997 |
| Abstract : Ohno_1997_Hum.Mol.Genet_6_753 |
| ESTHER : Ohno_1997_Hum.Mol.Genet_6_753 |
| PubMedSearch : Ohno_1997_Hum.Mol.Genet_6_753 |
| PubMedID: 9158150 |
| Title : Precision of reinnervation of original postsynaptic sites in frog muscle after a nerve crush - Letinsky_1976_J.Neurocytol_5_691 |
| Author(s) : Letinsky MS , Fischbeck KH , McMahan UJ |
| Ref : Journal of Neurocytology , 5 :691 , 1976 |
| Abstract : Letinsky_1976_J.Neurocytol_5_691 |
| ESTHER : Letinsky_1976_J.Neurocytol_5_691 |
| PubMedSearch : Letinsky_1976_J.Neurocytol_5_691 |
| PubMedID: 1087337 |