| Year |
Citation |
Score |
| 2018 |
Feldman HR, Dlouhy SR, Lah MD, Payne KK, Weaver DD. The progression of Wiedemann-Steiner syndrome in adulthood and two novel variants in the KMT2A gene. American Journal of Medical Genetics. Part A. PMID 30549396 DOI: 10.1002/Ajmg.A.60698 |
0.302 |
|
| 2018 |
Nelson K, Jackman C, Bell J, Shih CS, Payne K, Dlouhy S, Walsh L. Novel Homozygous Deletion in STRADA Gene Associated With Polyhydramnios, Megalencephaly, and Epilepsy in 2 Siblings: Implications for Diagnosis and Treatment. Journal of Child Neurology. 883073818802724. PMID 30311510 DOI: 10.1177/0883073818802724 |
0.384 |
|
| 2016 |
Celestino-Soper PB, Simpson E, Tumbleson Brink D, Lynnes TC, Dlouhy S, Vatta M, Yeley J, Brown C, Bai S. Intragenic CFTR Duplication and 5T/12TG Variant in a Patient with Non-Classic Cystic Fibrosis. Scientific Reports. 6: 38776. PMID 27996019 DOI: 10.1038/Srep38776 |
0.33 |
|
| 2016 |
Chakraborty S, Vatta M, Bachinski LL, Krahe R, Dlouhy S, Bai S. Molecular Diagnosis of Myotonic Dystrophy. Current Protocols in Human Genetics. 91: 9.29.1-9.29.19. PMID 27727437 DOI: 10.1002/Cphg.22 |
0.362 |
|
| 2015 |
Drendel HM, Pike JE, Schumacher K, Ouyang K, Wang J, Stuy M, Dlouhy S, Bai S. Intermediate MCAD Deficiency Associated with a Novel Mutation of the ACADM Gene: c.1052C>T. Case Reports in Genetics. 2015: 532090. PMID 26798524 DOI: 10.1155/2015/532090 |
0.365 |
|
| 2014 |
Singh S, Zhang A, Dlouhy S, Bai S. Detection of large expansions in myotonic dystrophy type 1 using triplet primed PCR. Frontiers in Genetics. 5: 94. PMID 24795756 DOI: 10.3389/Fgene.2014.00094 |
0.309 |
|
| 2007 |
Spina S, Murrell JR, Yoshida H, Ghetti B, Bermingham N, Sweeney B, Dlouhy SR, Crowther RA, Goedert M, Keohane C. The novel Tau mutation G335S: clinical, neuropathological and molecular characterization. Acta Neuropathologica. 113: 461-70. PMID 17186252 DOI: 10.1007/S00401-006-0182-5 |
0.359 |
|
| 2005 |
Gao Q, Thurston VC, Vance GH, Dlouhy SR, Hodes ME. Genetic diagnosis of PLP gene duplications/deletions in patients with Pelizaeus-Merzbacher disease Clinical Genetics. 68: 466-467. PMID 16207216 DOI: 10.1111/J.1399-0004.2005.00522.X |
0.335 |
|
| 2005 |
Laukaitis CM, Dlouhy SR, Emes RD, Ponting CP, Karn RC. Diverse spatial, temporal, and sexual expression of recently duplicated androgen-binding protein genes in Mus musculus. Bmc Evolutionary Biology. 5: 40. PMID 16018816 DOI: 10.1186/1471-2148-5-40 |
0.309 |
|
| 2004 |
Wexler NS, Lorimer J, Porter J, Gomez F, Moskowitz C, Shackell E, Marder K, Penchaszadeh G, Roberts SA, Gayán J, Brocklebank D, Cherny SS, Cardon LR, Gray J, Dlouhy SR, et al. Venezuelan kindreds reveal that genetic and environmental factors modulate Huntington's disease age of onset. Proceedings of the National Academy of Sciences of the United States of America. 101: 3498-503. PMID 14993615 DOI: 10.1073/Pnas.0308679101 |
0.332 |
|
| 2003 |
Laukaitis CM, Dlouhy SR, Karn RC. The mouse salivary androgen-binding protein (ABP) gene cluster on chromosomes 7: characterization and evolutionary relationships. Mammalian Genome : Official Journal of the International Mammalian Genome Society. 14: 679-91. PMID 14694904 DOI: 10.1007/S00335-003-2291-Y |
0.342 |
|
| 2002 |
Taratuto AL, Piccardo P, Reich EG, Chen SG, Sevlever G, Schultz M, Luzzi AA, Rugiero M, Abecasis G, Endelman M, Garcia AM, Capellari S, Xie Z, Lugaresi E, Gambetti P, ... Dlouhy SR, et al. Insomnia associated with thalamic involvement in E200K Creutzfeldt-Jakob disease. Neurology. 58: 362-7. PMID 11839833 DOI: 10.1212/Wnl.58.3.362 |
0.377 |
|
| 2001 |
Piccardo P, Liepnieks JJ, William A, Dlouhy SR, Farlow MR, Young K, Nochlin D, Bird TD, Nixon RR, Ball MJ, DeCarli C, Bugiani O, Tagliavini F, Benson MD, Ghetti B. Prion proteins with different conformations accumulate in Gerstmann-Sträussler-Scheinker disease caused by A117V and F198S mutations. The American Journal of Pathology. 158: 2201-7. PMID 11395398 DOI: 10.1016/S0002-9440(10)64692-5 |
0.35 |
|
| 2000 |
Woodward K, Kirtland K, Dlouhy S, Raskind W, Bird T, Malcolm S, Abeliovich D. X inactivation phenotype in carriers of Pelizaeus-Merzbacher disease: skewed in carriers of a duplication and random in carriers of point mutations. European Journal of Human Genetics : Ejhg. 8: 449-54. PMID 10878666 DOI: 10.1038/Sj.Ejhg.5200480 |
0.398 |
|
| 2000 |
Hodes ME, Woodward K, Spinner NB, Emanuel BS, Enrico-Simon A, Kamholz J, Stambolian D, Zackai EH, Pratt VM, Thomas IT, Crandall K, Dlouhy SR, Malcolm S. Additional copies of the proteolipid protein gene causing Pelizaeus- Merzbacher disease arise by separate integration in to the X chromosome American Journal of Human Genetics. 67: 14-22. PMID 10827108 DOI: 10.1086/302965 |
0.368 |
|
| 1999 |
Garbern JY, Cambi F, Lewis R, Shy M, Sima A, Kraft G, Vallat JM, Bosch EP, Hodes ME, Dlouhy S, Raskind W, Bird T, Macklin W, Kamholz J. Peripheral Neuropathy Caused by Proteolipid Protein Gene Mutations. Annals of the New York Academy of Sciences. 883: 351-365. PMID 29086946 DOI: 10.1111/J.1749-6632.1999.Tb08597.X |
0.39 |
|
| 1999 |
Hodes ME, Zimmerman AW, Aydanian A, Naidu S, Miller NR, Garcia Oller JL, Barker B, Aleck KA, Hurley TD, Dlouhy SR. Different mutations in the same codon of the proteolipid protein gene, PLP, may help in correlating genotype with phenotype in Pelizaeus-Merzbacher disease/X-linked spastic paraplegia (PMD/SPG2) American Journal of Medical Genetics. 82: 132-139. PMID 9934976 DOI: 10.1002/(Sici)1096-8628(19990115)82:2<132::Aid-Ajmg6>3.0.Co;2-4 |
0.43 |
|
| 1999 |
Tarauto A, Piccardo P, Reich F, Sevlever G, Schultz M, Leuzzi A, Ruggiero M, Abecassis G, Engelmann M, Garcia AM, Capellari S, Lugaresi E, Gambetti P, Dlouhy SR, Ghetti B. INSOMNIA IN FAMILIAL CREUTZFELDT JAKOB DISEASE (FCJD), E200K, WITH THALAMIC INVOLVEMENT Journal of Neuropathology and Experimental Neurology. 58: 551. DOI: 10.1097/00005072-199905000-00179 |
0.311 |
|
| 1999 |
Piccardo P, Dlouhy SR, Young K, William A, Feng Y, Ouinn B, Canto MD, Sufit R, Ghetti B. Creutzfeldt Jakob Disease (Cjd) With Prion Protein Gene (Prnp) V2101 Mutation Journal of Neuropathology and Experimental Neurology. 58: 550. DOI: 10.1097/00005072-199905000-00177 |
0.45 |
|
| 1999 |
Dlouhy S, Feng Y, Young K, Bird T, DeCarli C, Hodes ME, Piccardo P, Ghetti B. AN INTRON MUTATION IN THE PRION PROTEIN GENE (PRNP) Journal of Neuropathology and Experimental Neurology. 58: 550. DOI: 10.1097/00005072-199905000-00176 |
0.437 |
|
| 1998 |
Hodes ME, Aydanian A, Dlouhy SR, Whelan DT, Heshka T, Ronen G. A de novo mutation (C755T; Ser252Phe) in exon 6 of the proteolipid protein gene responsible for Pelizaeus-Merzbacher disease [3] Clinical Genetics. 54: 248-249. PMID 9788732 DOI: 10.1111/J.1399-0004.1998.Tb04295.X |
0.418 |
|
| 1998 |
Piccardo P, Dlouhy SR, Lievens PM, Young K, Bird TD, Nochlin D, Dickson DW, Vinters HV, Zimmerman TR, Mackenzie IR, Kish SJ, Ang LC, De Carli C, Pocchiari M, Brown P, et al. Phenotypic variability of Gerstmann-Sträussler-Scheinker disease is associated with prion protein heterogeneity. Journal of Neuropathology and Experimental Neurology. 57: 979-88. PMID 9786248 DOI: 10.1097/00005072-199810000-00010 |
0.409 |
|
| 1998 |
Wei J, Hodes ME, Piva R, Feng Y, Wang Y, Ghetti B, Dlouhy SR. Characterization of murine Girk2 transcript isoforms: structure and differential expression. Genomics. 51: 379-90. PMID 9721208 DOI: 10.1006/Geno.1998.5369 |
0.355 |
|
| 1998 |
Hodes ME, Hadjisavvas A, Butler IJ, Aydanian A, Dlouhy SR. X-linked spastic paraplegia due to a mutation (C506T; Ser169Phe) in exon 4 of the proteolipid protein gene (PLP) American Journal of Medical Genetics. 75: 516-517. PMID 9489796 DOI: 10.1002/(Sici)1096-8628(19980217)75:5<516::Aid-Ajmg11>3.0.Co;2-N |
0.406 |
|
| 1998 |
Piccardo P, Kish SJ, Ang LC, Young K, Bugiani O, Tagliavini F, Dlouhy SR, Ghetti B. PRION PROTEIN ISOFORMS IN THE NEW VARIANT OF GERSTMAN-STRÄUSSLER-SCHEINKER DISEASE Q212P Journal of Neuropathology and Experimental Neurology. 57: 518. DOI: 10.1097/00005072-199805000-00214 |
0.35 |
|
| 1998 |
Young K, Piccardo P, Kish SJ, Ang LC, Dlouhy S, Ghetti B. GERSTMANN-STRÄUSSLER-SCHEINKER DISEASE (GSS) WITH A MUTATION AT PRION PROTEIN (PrP) RESIDUE 212 Journal of Neuropathology and Experimental Neurology. 57: 518. DOI: 10.1097/00005072-199805000-00213 |
0.429 |
|
| 1997 |
Naidu S, Dlouhy SR, Geraghty MT, Hodes ME. A male child with the rumpshaker mutation, X-linked spastic paraplegia/Pelizaeus-Merzbacher disease and lysinuria Journal of Inherited Metabolic Disease. 20: 811-816. PMID 9427151 DOI: 10.1023/A:1005328019832 |
0.385 |
|
| 1997 |
Dlouhy S. A reintroduction to mendelian genetics Cancer Investigation. 15: 429-434. PMID 9316625 DOI: 10.3109/07357909709047582 |
0.328 |
|
| 1997 |
Bond C, Si X, Crisp M, Wong P, Paulson GW, Boesel CP, Dlouhy SR, Hodes ME. Family with Pelizaeus-Merzbacher disease/X-linked spastic paraplegia and a nonsense mutation in exon 6 of the proteolipid protein gene. American Journal of Medical Genetics. 71: 357-60. PMID 9268109 DOI: 10.1002/(Sici)1096-8628(19970822)71:3<357::Aid-Ajmg19>3.0.Co;2-J |
0.439 |
|
| 1997 |
Garbern JY, Cambi F, Tang XM, Sima AA, Vallat JM, Bosch EP, Lewis R, Shy M, Sohi J, Kraft G, Chen KL, Joshi I, Leonard DG, Johnson W, Raskind W, ... Dlouhy SR, et al. Proteolipid protein is necessary in peripheral as well as central myelin. Neuron. 19: 205-18. PMID 9247276 DOI: 10.1016/S0896-6273(00)80360-8 |
0.364 |
|
| 1997 |
Unverzagt FW, Farlow MR, Norton J, Dlouhy SR, Young K, Ghetti B. Neuropsychological function in patients with Gerstmann-Sträussler-Scheinker disease from the Indiana kindred (F198S). Journal of the International Neuropsychological Society : Jins. 3: 169-78. PMID 9126858 DOI: 10.1017/S1355617797001690 |
0.31 |
|
| 1997 |
Hodes ME, Blank CA, Pratt VM, Morales J, Napier J, Dlouhy SR. Nonsense mutation in exon 3 of the proteolipid protein gene (PLP) in a family with an unusual form of pelizaeus-merzbacher disease American Journal of Medical Genetics. 69: 121-125. PMID 9056547 DOI: 10.1002/(Sici)1096-8628(19970317)69:2<121::Aid-Ajmg2>3.0.Co;2-S |
0.474 |
|
| 1997 |
Young K, Clark HB, Piccardo P, Dlouhy SR, Ghetti B. Gerstmann-Sträussler-Scheinker disease with the PRNP P102L mutation and valine at codon 129. Brain Research. Molecular Brain Research. 44: 147-50. PMID 9030710 DOI: 10.1016/S0169-328X(96)00251-3 |
0.411 |
|
| 1997 |
Wei J, Dlouhy SR, Bayer S, Piva R, Verina T, Wang Y, Feng Y, Dupree B, Hodes ME, Ghetti B. In Situ Hybridization Analysis of Girk2 Expression in the Developing Central Nervous System in Normal and Weaver Mice Journal of Neuropathology and Experimental Neurology. 56: 762-771. DOI: 10.1097/00005072-199756070-00002 |
0.342 |
|
| 1997 |
Young K, Russell LA, Ma JM, Hedley-Whyte TE, Dlouhy SR, Piccardo P, Ghetti B. Gerstmann-Sträussler-Scheinker (Gss) Disease With The Prion Protein Gene (Prnp) P102L Mutation And Lower Motor Neuron Degeneration Journal of Neuropathology and Experimental Neurology. 56: 596. DOI: 10.1097/00005072-199705000-00113 |
0.41 |
|
| 1996 |
Piccardo P, Seiler C, Dlouhy SR, Young K, Farlow MR, Prelli F, Frangione B, Bugiani O, Tagliavini F, Ghetti B. Proteinase-K-resistant prion protein isoforms in Gerstmann-Sträussler-Scheinker disease (Indiana kindred). Journal of Neuropathology and Experimental Neurology. 55: 1157-63. PMID 8939199 DOI: 10.1097/00005072-199611000-00007 |
0.39 |
|
| 1996 |
Nance MA, Boyadjiev S, Pratt VM, Taylor S, Hodes ME, Dlouhy SR. Adult-onset neurodegenerative disorder due to proteolipid protein gene mutation in the mother of a man with Pelizaeus-Merzbacher disease Neurology. 47: 1333-1335. PMID 8909455 DOI: 10.1212/Wnl.47.5.1333 |
0.446 |
|
| 1996 |
Ghetti B, Piccardo P, Frangione B, Bugiani O, Giaccone G, Young K, Prelli F, Farlow MR, Dlouhy SR, Tagliavini F. Prion protein amyloidosis. Brain Pathology (Zurich, Switzerland). 6: 127-45. PMID 8737929 DOI: 10.1111/J.1750-3639.1996.Tb00796.X |
0.411 |
|
| 1996 |
Tong Y, Wei J, Zhang S, Strong JA, Dlouhy SR, Hodes ME, Ghetti B, Yu L. The weaver mutation changes the ion selectivity of the affected inwardly rectifying potassium channel GIRK2. Febs Letters. 390: 63-8. PMID 8706831 DOI: 10.1016/0014-5793(96)00632-1 |
0.37 |
|
| 1996 |
Wei J, Dlouhy SR, Hara A, Ghetti B, Hodes ME. Cloning a cDNA for carbonyl reductase (Cbr) from mouse cerebellum: murine genes that express cbr map to chromosomes 16 and 11. Genomics. 34: 147-8. PMID 8661038 DOI: 10.1006/Geno.1996.0255 |
0.308 |
|
| 1996 |
Ghetti B, Piccardo P, Spillantini MG, Ichimiya Y, Porro M, Perini F, Kitamoto T, Tateishi J, Seiler C, Frangione B, Bugiani O, Giaccone G, Prelli F, Goedert M, Dlouhy SR, et al. Vascular variant of prion protein cerebral amyloidosis with tau-positive neurofibrillary tangles: the phenotype of the stop codon 145 mutation in PRNP. Proceedings of the National Academy of Sciences of the United States of America. 93: 744-8. PMID 8570627 DOI: 10.1073/Pnas.93.2.744 |
0.393 |
|
| 1996 |
Young K, Piccardo P, Tagliavini F, Giaccone G, Bugiani O, Dlouhy SR, Clark HB, Ghetti B. 165 Prior protein (PrP) residue 129 Val in Gerstmann-Sträussler-Scheinker (GSS) disease with mutation PRNP P102L Neurobiology of Aging. 17. DOI: 10.1016/S0197-4580(96)80167-9 |
0.431 |
|
| 1996 |
Ghetti B, Piccardo P, Frangione B, Bugiani O, Giaccone G, Young K, Prelli F, Farlow MR, Dlouhy SR, Tagliavini F. Prion protein hereditary amyloidosis: Parenchymal and vascular Seminars in Virology. 7: 189-200. DOI: 10.1006/Smvy.1996.0024 |
0.376 |
|
| 1995 |
Ghetti B, Dlouhy SR, Giaccone G, Bugiani O, Frangione B, Farlow MR, Tagliavini F. Gerstmann-Sträussler-Scheinker disease and the Indiana kindred. Brain Pathology (Zurich, Switzerland). 5: 61-75. PMID 7767492 DOI: 10.1111/J.1750-3639.1995.Tb00578.X |
0.464 |
|
| 1995 |
Piccardo P, Ghetti B, Dickson DW, Vinters HV, Giaccone G, Bugiani O, Tagliavini F, Young K, Dlouhy SR, Seiler C. Gerstmann-Sträussler-Scheinker disease (PRNP P102L): amyloid deposits are best recognized by antibodies directed to epitopes in PrP region 90-165. Journal of Neuropathology and Experimental Neurology. 54: 790-801. PMID 7595652 DOI: 10.1097/00005072-199511000-00006 |
0.34 |
|
| 1995 |
Pratt VM, Boyadjiev S, Green K, Hodes ME, Dlouhy SR. Pelizaeus-Merzbacher disease caused by a de novo mutation that originated in exon 2 of the maternal great-grandfather of the propositus American Journal of Medical Genetics. 58: 70-73. PMID 7573159 DOI: 10.1002/Ajmg.1320580114 |
0.444 |
|
| 1995 |
Pratt VM, Dlouhy SR, Hodes ME. Pelizaeus-Merzbacher disease: A point mutation in exon 6 of the proteolipid protein (PLP) gene Clinical Genetics. 47: 99-100. PMID 7541731 DOI: 10.1111/J.1399-0004.1995.Tb03932.X |
0.467 |
|
| 1995 |
Kleindorfer DO, Dlouhy SR, Pratt VM, Jones MC, Trofatter JA, Hodes ME. In-frame deletion in the proteolipid protein gene of a family with Pelizaeus-Merzbacher disease American Journal of Medical Genetics. 55: 405-407. PMID 7539213 DOI: 10.1002/Ajmg.1320550404 |
0.444 |
|
| 1995 |
Pratt VM, Boyadjiev S, Dlouhy SR, Silver K, Der Kaloustian VM, Hodes ME. Pelizaeus-Merzbacher disease in a family of Portuguese origin caused by a point mutation in exon 5 of the proteolipid protein gene American Journal of Medical Genetics. 55: 402-404. PMID 7539212 DOI: 10.1002/Ajmg.1320550403 |
0.438 |
|
| 1995 |
Hodes ME, DeMyer WE, Pratt VM, Edwards MK, Dlouhy SR. Girl with signs of Pelizaeus-Merzbacher disease heterozygous for a mutation in exon 2 of the proteolipid protein gene. American Journal of Medical Genetics. 55: 397-401. PMID 7539211 DOI: 10.1002/Ajmg.1320550402 |
0.399 |
|
| 1995 |
Pratt VM, Naidu S, Dlouhy SR, Marks HG, Hodes ME. A novel mutation in exon 3 of the proteolipid protein gene in pelizaeus-merzbacher disease Neurology. 45: 394-395. PMID 7531827 DOI: 10.1212/Wnl.45.2.394 |
0.469 |
|
| 1995 |
Tagliavini F, Prelli F, Porro M, Rossi G, Giaccnne G, Bird TD, Dlouhy SR, Young K, Piccardo P, Ghetti B, Bugiani O, Frangione B. ONLY MUTANT PRP PARTICIPATES IN AMYLOID FORMATION IN GERSTMANN-STRÄUSSLER-SCHEINKER DISEASE WITH ALA>VAL SUBSTITUTION AT CODON 117 Journal of Neuropathology and Experimental Neurology. 54: 416. DOI: 10.1097/00005072-199505000-00037 |
0.338 |
|
| 1994 |
Tagliavini F, Prelli F, Porro M, Rossi G, Giaccone G, Farlow MR, Dlouhy SR, Ghetti B, Bugiani O, Frangione B. Amyloid fibrils in Gerstmann-Sträussler-Scheinker disease (Indiana and Swedish kindreds) express only PrP peptides encoded by the mutant allele. Cell. 79: 695-703. PMID 7954833 DOI: 10.1016/0092-8674(94)90554-1 |
0.414 |
|
| 1994 |
Hodes ME, Dlouhy SR, Wei JJ, Wang Y, Sangameswaran L, Lazar V, Triarhou LC, Ghetti B. cDNA approaches to isolation of the mouse mutant weaver gene. Neurochemical Research. 19: 1359-62. PMID 7898606 DOI: 10.1007/Bf00972463 |
0.32 |
|
| 1994 |
Kambouris M, Sangameswaran L, Triarhou LC, Kozak CA, Dlouhy SR, Ghetti B, Hodes ME. Molecular characterization of a novel cDNA from murine cerebellum, developmental expression, and distribution in brain. Brain Research. Molecular Brain Research. 25: 192-9. PMID 7808217 DOI: 10.1016/0169-328X(94)90153-8 |
0.34 |
|
| 1994 |
Kambouris M, Triarhou LC, Dlouhy SR, Sangameswaran L, Luo F, Ghetti B, Hodes ME. Novel cDNA clones obtained by antibody screening of a mouse cerebellar cDNA expression library. Brain Research. Molecular Brain Research. 25: 183-91. PMID 7808216 DOI: 10.1016/0169-328X(94)90152-X |
0.347 |
|
| 1993 |
Kambouris M, Sangameswaran L, Dlouhy SR, Hodes ME, Ghetti B, Triarhou LC. Cellular distribution of the RNA transcripts of a newly discovered gene in the brain of normal, weaver, Purkinje cell degeneration and reeler mutant mice as evidenced by in situ hybridization histochemistry. Brain Research. Molecular Brain Research. 18: 321-8. PMID 8326827 DOI: 10.1016/0169-328X(93)90096-8 |
0.32 |
|
| 1993 |
Hodes ME, Pratt VM, Dlouhy SR. Genetics of pelizaeus-merzbacher disease Developmental Neuroscience. 15: 383-394. PMID 7530633 DOI: 10.1159/000111361 |
0.467 |
|
| 1993 |
Dlouhy SR, Pratt VM, Boyadjiev SA, Hodes ME. Pelizaeus-Merzbacher Disease Caused By De Novo Mutation Journal of Neuropathology and Experimental Neurology. 52: 331. DOI: 10.1097/00005072-199305000-00284 |
0.407 |
|
| 1992 |
Pratt VM, Trofatter JA, Larsen MB, Hodes ME, Dlouhy SR. New variant in exon 3 of the proteolipid protein (PLP) gene in a family with Pelizaeus-Merzbacher disease American Journal of Medical Genetics. 43: 642-646. PMID 1376553 DOI: 10.1002/Ajmg.1320430335 |
0.475 |
|
| 1992 |
Hsiao K, Dlouhy SR, Farlow MR, Cass C, Da Costa M, Conneally PM, Hodes ME, Ghetti B, Prusiner SB. Mutant prion proteins in Gerstmann-Sträussler-Scheinker disease with neurofibrillary tangles. Nature Genetics. 1: 68-71. PMID 1363810 DOI: 10.1038/Ng0492-68 |
0.419 |
|
| 1992 |
Dlouhy SR, Hsiao K, Farlow MR, Foroud T, Conneally PM, Johnson P, Prusiner SB, Hodes ME, Ghetti B. Linkage of the Indiana kindred of Gerstmann-Sträussler-Scheinker disease to the prion protein gene. Nature Genetics. 1: 64-7. PMID 1363809 DOI: 10.1038/Ng0492-64 |
0.468 |
|
| 1992 |
Dlouhy SR, Farlow M, Hsiao K, Foroud T, Johnson P, Conneally PM, Prusiner SB, Hodes ME, Ghetti B. Linkage of the indiana kindred variant of Gerstmann-Sträussler-Scheinker disease to a mutation in the prion protein gene (PRNP)☆ Neurobiology of Aging. 13. DOI: 10.1016/0197-4580(92)90402-J |
0.478 |
|
| 1992 |
Farlow M, Bugiani O, Giaccone G, Tagliavini F, Ghetti B, Dlouhy S. A “presymptomatic” case of Gerstmann-Sträussler-Scheinker disease from the indiana kindred has cerebellar deposits of prion protein amyloid and a mutation in the prion protein gene Neurobiology of Aging. 13: S39. DOI: 10.1016/0197-4580(92)90281-2 |
0.436 |
|
| 1991 |
Ghetti B, Triarhou LC, Alyea CJ, Dlouhy SR, Karn RC. Unique cerebellar phenotype combining granule and Purkinje cell loss: morphological evidence for weaver* pcd double mutant mice. Journal of Neurocytology. 20: 27-38. PMID 2027034 DOI: 10.1007/Bf01187132 |
0.324 |
|
| 1991 |
Trofatter JA, Pratt VM, Dlouhy SR, Hodes ME. Ahall polymorphism in human X-linked proteolipid protein gene (PLP) Nucleic Acids Research. 19: 6057. PMID 1719490 DOI: 10.1093/Nar/19.21.6057-A |
0.325 |
|
| 1991 |
Pratt VM, Trofatter JA, Schinzel A, Dlouhy SR, Conneally PM, Hodes ME. A new mutation in the proteolipid protein (PLP) gene in a German family with Pelizaeus-Merzbacher disease. American Journal of Medical Genetics. 38: 136-9. PMID 1707231 DOI: 10.1002/Ajmg.1320380129 |
0.425 |
|
| 1989 |
Dlouhy SR, Schaff DA, Trofatter JA, Liu HS, Stambrook PJ, Tischfield JA. Denaturing gradient gel analysis of single-base substitutions at a mouse adenine phosphoribosyltransferase splice acceptor site Molecular Carcinogenesis. 2: 217-225. PMID 2803521 DOI: 10.1002/Mc.2940020408 |
0.34 |
|
| 1989 |
Ghetti B, Tagliavini F, Masters CL, Beyreuther K, Giaccone G, Verga L, Farlow MR, Conneally PM, Dlouhy SR, Azzarelli B. Gerstmann-Sträussler-Scheinker disease. II. Neurofibrillary tangles and plaques with PrP-amyloid coexist in an affected family. Neurology. 39: 1453-61. PMID 2573006 DOI: 10.1212/Wnl.39.11.1453 |
0.358 |
|
| 1989 |
Trofatter JA, Dlouhy SR, DeMyer W, Conneally PM, Hodes ME. Pelizaeus-Merzbacher disease: tight linkage to proteolipid protein gene exon variant. Proceedings of the National Academy of Sciences of the United States of America. 86: 9427-30. PMID 2480601 DOI: 10.1073/Pnas.86.23.9427 |
0.45 |
|
| 1987 |
Farlow MR, DeMyer W, Dlouhy SR, Hodes ME. X-linked recessive inheritance of ataxia and adult-onset dementia: clinical features and preliminary linkage analysis. Neurology. 37: 602-7. PMID 3470628 DOI: 10.1212/Wnl.37.4.602 |
0.328 |
|
| 1987 |
Dlouhy SR, Christian JC, Haines JL, Conneally PM, Hodes ME. Localization of the gene for a syndrome of X-linked skeletal dysplasia and mental retardation to Xq27-qter. Human Genetics. 75: 136-9. PMID 3469136 DOI: 10.1007/Bf00591074 |
0.339 |
|
| 1984 |
Dlouhy SR, Karn RC. Multiple gene action determining a mouse salivary protein phenotype: identification of the structural gene for androgen binding protein (Abp). Biochemical Genetics. 22: 657-667. PMID 6541906 DOI: 10.1007/Bf00485851 |
0.366 |
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