| Title : Mutation in CPT1C Associated With Pure Autosomal Dominant Spastic Paraplegia - Rinaldi_2015_JAMA.Neurol_72_561 |
| Author(s) : Rinaldi C , Schmidt T , Situ AJ , Johnson JO , Lee PR , Chen KL , Bott LC , Fado R , Harmison GH , Parodi S , Grunseich C , Renvoise B , Biesecker LG , De Michele G , Santorelli FM , Filla A , Stevanin G , Durr A , Brice A , Casals N , Traynor BJ , Blackstone C , Ulmer TS , Fischbeck KH |
| Ref : JAMA Neurol , 72 :561 , 2015 |
| Abstract : |
| PubMedSearch : Rinaldi_2015_JAMA.Neurol_72_561 |
| PubMedID: 25751282 |
| 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 : |
| 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 : |
| 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 : |
| PubMedSearch : Letinsky_1976_J.Neurocytol_5_691 |
| PubMedID: 1087337 |