Year |
Citation |
Score |
2012 |
Hardiman O, Figlewicz DA. The expansions of ALS. Neurology. 79: 842-3. PMID 22843260 DOI: 10.1212/Wnl.0B013E3182662031 |
0.444 |
|
2009 |
Chow CY, Landers JE, Bergren SK, Sapp PC, Grant AE, Jones JM, Everett L, Lenk GM, McKenna-Yasek DM, Weisman LS, Figlewicz D, Brown RH, Meisler MH. Deleterious variants of FIG4, a phosphoinositide phosphatase, in patients with ALS. American Journal of Human Genetics. 84: 85-8. PMID 19118816 DOI: 10.1016/J.Ajhg.2008.12.010 |
0.345 |
|
2008 |
Meisler MH, Russ C, Montgomery KT, Greenway M, Ennis S, Hardiman O, Figlewicz DA, Quenneville NR, Conibear E, Brown RH. Evaluation of the Golgi trafficking protein VPS54 (wobbler) as a candidate for ALS. Amyotrophic Lateral Sclerosis : Official Publication of the World Federation of Neurology Research Group On Motor Neuron Diseases. 9: 141-8. PMID 18574757 DOI: 10.1080/17482960801934403 |
0.312 |
|
2007 |
Dixit M, Ansseau E, Tassin A, Winokur S, Shi R, Qian H, Sauvage S, Mattéotti C, van Acker AM, Leo O, Figlewicz D, Barro M, Laoudj-Chenivesse D, Belayew A, Coppée F, et al. DUX4, a candidate gene of facioscapulohumeral muscular dystrophy, encodes a transcriptional activator of PITX1. Proceedings of the National Academy of Sciences of the United States of America. 104: 18157-62. PMID 17984056 DOI: 10.1073/Pnas.0708659104 |
0.332 |
|
2003 |
Figlewicz DA, Orrell RW. The genetics of motor neuron diseases. Amyotrophic Lateral Sclerosis and Other Motor Neuron Disorders : Official Publication of the World Federation of Neurology, Research Group On Motor Neuron Diseases. 4: 225-31. PMID 14753656 DOI: 10.1080/14660820310011287 |
0.385 |
|
2003 |
Winokur ST, Barrett K, Martin JH, Forrester JR, Simon M, Tawil R, Chung SA, Masny PS, Figlewicz DA. Facioscapulohumeral muscular dystrophy (FSHD) myoblasts demonstrate increased susceptibility to oxidative stress. Neuromuscular Disorders : Nmd. 13: 322-33. PMID 12868502 DOI: 10.1016/S0960-8966(02)00284-5 |
0.426 |
|
2002 |
Kriscenski-Perry E, Durham HD, Sheu SS, Figlewicz DA. Synergistic effects of low level stressors in an oxidative damage model of spinal motor neuron degeneration. Amyotrophic Lateral Sclerosis and Other Motor Neuron Disorders : Official Publication of the World Federation of Neurology, Research Group On Motor Neuron Diseases. 3: 151-7. PMID 12495577 DOI: 10.1080/146608202760834166 |
0.539 |
|
2002 |
Menzies FM, Grierson AJ, Cookson MR, Heath PR, Tomkins J, Figlewicz DA, Ince PG, Shaw PJ. Selective loss of neurofilament expression in Cu/Zn superoxide dismutase (SOD1) linked amyotrophic lateral sclerosis. Journal of Neurochemistry. 82: 1118-28. PMID 12358759 DOI: 10.1046/J.1471-4159.2002.01045.X |
0.462 |
|
2002 |
Cookson MR, Menzies FM, Manning P, Eggett CJ, Figlewicz DA, McNeil CJ, Shaw PJ. Cu/Zn superoxide dismutase (SOD1) mutations associated with familial amyotrophic lateral sclerosis (ALS) affect cellular free radical release in the presence of oxidative stress. Amyotrophic Lateral Sclerosis and Other Motor Neuron Disorders : Official Publication of the World Federation of Neurology, Research Group On Motor Neuron Diseases. 3: 75-85. PMID 12215229 DOI: 10.1080/146608202760196048 |
0.49 |
|
2002 |
Menzies FM, Cookson MR, Taylor RW, Turnbull DM, Chrzanowska-Lightowlers ZM, Dong L, Figlewicz DA, Shaw PJ. Mitochondrial dysfunction in a cell culture model of familial amyotrophic lateral sclerosis. Brain : a Journal of Neurology. 125: 1522-33. PMID 12077002 DOI: 10.1093/Brain/Awf167 |
0.459 |
|
2002 |
Meijer IA, Hand CK, Cossette P, Figlewicz DA, Rouleau GA. Spectrum of SPG4 mutations in a large collection of North American families with hereditary spastic paraplegia. Archives of Neurology. 59: 281-6. PMID 11843700 DOI: 10.1001/Archneur.59.2.281 |
0.35 |
|
2001 |
Hadano S, Hand CK, Osuga H, Yanagisawa Y, Otomo A, Devon RS, Miyamoto N, Showguchi-Miyata J, Okada Y, Singaraja R, Figlewicz DA, Kwiatkowski T, Hosler BA, Sagie T, Skaug J, et al. A gene encoding a putative GTPase regulator is mutated in familial amyotrophic lateral sclerosis 2. Nature Genetics. 29: 166-73. PMID 11586298 DOI: 10.1038/Ng1001-166 |
0.416 |
|
2001 |
Manning P, Cookson MR, McNeil CJ, Figlewicz D, Shaw PJ. Superoxide-induced nitric oxide release from cultured glial cells. Brain Research. 911: 203-10. PMID 11511391 DOI: 10.1016/S0006-8993(01)02688-9 |
0.339 |
|
2001 |
Orrell RW, Figlewicz DA. Clinical implications of the genetics of ALS and other motor neuron diseases. Neurology. 57: 9-17. PMID 11460829 DOI: 10.1212/Wnl.57.1.9 |
0.468 |
|
2001 |
Doroudchi MM, Minotti S, Figlewicz DA, Durham HD. Nitrotyrosination contributes minimally to toxicity of mutant SOD1 associated with ALS. Neuroreport. 12: 1239-43. PMID 11338199 |
0.389 |
|
2001 |
Williams RE, Cookson MR, Fray AE, Manning PM, Menzies FM, Figlewicz DA, Shaw PJ. Cultured glial cells are resistant to the effects of motor neurone disease-associated SOD1 mutations. Neuroscience Letters. 302: 146-50. PMID 11290408 DOI: 10.1016/S0304-3940(01)01686-X |
0.473 |
|
2000 |
Derby ML, Giuliano R, Figlewicz DA, Bohn MC. GDNF is trophic for mouse motoneurons that express a mutant superoxide dismutase (SOD-1) gene. Amyotrophic Lateral Sclerosis and Other Motor Neuron Disorders : Official Publication of the World Federation of Neurology, Research Group On Motor Neuron Diseases. 1: 113-22. PMID 11467048 DOI: 10.1080/14660820050515412 |
0.36 |
|
2000 |
Ingram JL, Stodgell CJ, Hyman SL, Figlewicz DA, Weitkamp LR, Rodier PM. Discovery of allelic variants of HOXA1 and HOXB1: genetic susceptibility to autism spectrum disorders. Teratology. 62: 393-405. PMID 11091361 DOI: 10.1002/1096-9926(200012)62:6<393::Aid-Tera6>3.0.Co;2-V |
0.316 |
|
1999 |
Mohajeri MH, Figlewicz DA, Bohn MC. Intramuscular grafts of myoblasts genetically modified to secrete glial cell line-derived neurotrophic factor prevent motoneuron loss and disease progression in a mouse model of familial amyotrophic lateral sclerosis. Human Gene Therapy. 10: 1853-66. PMID 10446925 DOI: 10.1089/10430349950017536 |
0.342 |
|
1999 |
Figlewicz DA, Bird TD. "Pure" hereditary spastic paraplegias: the story becomes complicated. Neurology. 53: 5-7. PMID 10408527 DOI: 10.1212/Wnl.53.1.5 |
0.342 |
|
1999 |
Mithal NP, Radunović A, Figlewicz DA, McMillan TJ, Leigh PN. Cells from individuals with SOD-1 associated familial amyotrophic lateral sclerosis do not have an increased susceptibility to radiation-induced free radical production or DNA damage. Journal of the Neurological Sciences. 164: 89-92. PMID 10385054 DOI: 10.1016/S0022-510X(99)00053-2 |
0.398 |
|
1999 |
Bruening W, Roy J, Giasson B, Figlewicz DA, Mushynski WE, Durham HD. Up-regulation of protein chaperones preserves viability of cells expressing toxic Cu/Zn-superoxide dismutase mutants associated with amyotrophic lateral sclerosis. Journal of Neurochemistry. 72: 693-9. PMID 9930742 DOI: 10.1046/J.1471-4159.1999.0720693.X |
0.472 |
|
1998 |
Roy J, Minotti S, Dong L, Figlewicz DA, Durham HD. Glutamate potentiates the toxicity of mutant Cu/Zn-superoxide dismutase in motor neurons by postsynaptic calcium-dependent mechanisms. The Journal of Neuroscience : the Official Journal of the Society For Neuroscience. 18: 9673-84. PMID 9822728 DOI: 10.1523/Jneurosci.18-23-09673.1998 |
0.438 |
|
1998 |
Mohajeri MH, Figlewicz DA, Bohn MC. Selective loss of alpha motoneurons innervating the medial gastrocnemius muscle in a mouse model of amyotrophic lateral sclerosis. Experimental Neurology. 150: 329-36. PMID 9527903 DOI: 10.1006/Exnr.1998.6758 |
0.358 |
|
1998 |
Tawil R, Figlewicz DA, Griggs RC, Weiffenbach B. Facioscapulohumeral dystrophy: a distinct regional myopathy with a novel molecular pathogenesis. FSH Consortium. Annals of Neurology. 43: 279-82. PMID 9506542 DOI: 10.1002/Ana.410430303 |
0.325 |
|
1997 |
Durham HD, Roy J, Dong L, Figlewicz DA. Aggregation of mutant Cu/Zn superoxide dismutase proteins in a culture model of ALS. Journal of Neuropathology and Experimental Neurology. 56: 523-30. PMID 9143265 |
0.401 |
|
1996 |
Rubio A, Steinberg K, Figlewicz DA, MacDonald ME, Greenamyre T, Hamill R, Shoulson I, Powers JM. Coexistence of Huntington's disease and familial amyotrophic lateral sclerosis: case presentation. Acta Neuropathologica. 92: 421-7. PMID 8891076 DOI: 10.1007/S004010050539 |
0.364 |
|
1996 |
Tawil R, Forrester J, Griggs RC, Mendell J, Kissel J, McDermott M, King W, Weiffenbach B, Figlewicz D. Evidence for anticipation and association of deletion size with severity in facioscapulohumeral muscular dystrophy. The FSH-DY Group. Annals of Neurology. 39: 744-8. PMID 8651646 DOI: 10.1002/Ana.410390610 |
0.306 |
|
1996 |
Fink JK, Heiman-Patterson T, Bird T, Cambi F, Dubé MP, Figlewicz DA, Fink JK, Haines JL, Heiman-Patterson T, Hentati A, Pericak-Vance MA, Raskind W, Rouleau GA, Siddique T. Hereditary spastic paraplegia: advances in genetic research. Hereditary Spastic Paraplegia Working group. Neurology. 46: 1507-14. PMID 8649538 DOI: 10.1212/Wnl.46.6.1507 |
0.337 |
|
1996 |
Rooke K, Figlewicz DA, Han FY, Rouleau GA. Analysis of the KSP repeat of the neurofilament heavy subunit in familiar amyotrophic lateral sclerosis. Neurology. 46: 789-90. PMID 8618684 DOI: 10.1212/Wnl.46.3.789 |
0.449 |
|
1996 |
Rouleau GA, Clark AW, Rooke K, Pramatarova A, Krizus A, Suchowersky O, Julien JP, Figlewicz D. SOD1 mutation is associated with accumulation of neurofilaments in amyotrophic lateral sclerosis. Annals of Neurology. 39: 128-31. PMID 8572658 DOI: 10.1002/Ana.410390119 |
0.429 |
|
1995 |
Pramatarova A, Figlewicz DA, Krizus A, Han FY, Ceballos-Picot I, Nicole A, Dib M, Meininger V, Brown RH, Rouleau GA. Identification of new mutations in the Cu/Zn superoxide dismutase gene of patients with familial amyotrophic lateral sclerosis. American Journal of Human Genetics. 56: 592-6. PMID 7887412 |
0.312 |
|
1995 |
Parboosingh JS, Rouleau GA, Meninger V, McKenna-Yasek D, Brown RH, Figlewicz DA. Absence of mutations in the Mn superoxide dismutase or catalase genes in familial amyotrophic lateral sclerosis. Neuromuscular Disorders : Nmd. 5: 7-10. PMID 7719145 DOI: 10.1016/0960-8966(94)E0022-Z |
0.43 |
|
1995 |
Garofalo O, Figlewicz DA, Thomas SM, Butler R, Lebuis L, Rouleau G, Meininger V, Leigh PN. Superoxide dismutase activity in lymphoblastoid cells from motor neurone disease/amyotrophic lateral sclerosis (MND/ALS) patients. Journal of the Neurological Sciences. 129: 90-2. PMID 7595631 DOI: 10.1016/0022-510X(95)00073-B |
0.446 |
|
1995 |
Durham HD, O'Brien C, Nalbantoglu J, Figlewicz DA. Use of tissue culture models to study environmental-genetic interactions relevant to neurodegenerative diseases. Clinical and Experimental Pharmacology & Physiology. 22: 366-7. PMID 7554432 DOI: 10.1111/J.1440-1681.1995.Tb02019.X |
0.443 |
|
1995 |
Griggs RC, Tawil R, McDermott M, Forrester J, Figlewicz D, Weiffenbach B. Monozygotic twins with facioscapulohumeral dystrophy (FSHD): Implications for genotype/phenotype correlation Muscle & Nerve. 18. DOI: 10.1002/Mus.880181311 |
0.317 |
|
1994 |
Hentati A, Bejaoui K, Pericak-Vance MA, Hentati F, Speer MC, Hung WY, Figlewicz DA, Haines J, Rimmler J, Ben Hamida C. Linkage of recessive familial amyotrophic lateral sclerosis to chromosome 2q33-q35. Nature Genetics. 7: 425-8. PMID 7920663 DOI: 10.1038/Ng0794-425 |
0.386 |
|
1994 |
Figlewicz DA, Krizus A, Martinoli MG, Meininger V, Dib M, Rouleau GA, Julien JP. Variants of the heavy neurofilament subunit are associated with the development of amyotrophic lateral sclerosis. Human Molecular Genetics. 3: 1757-61. PMID 7849698 DOI: 10.1093/Hmg/3.10.1757 |
0.425 |
|
1994 |
Figlewicz DA, McInnis MG, Goto J, Haines JL, Warren AC, Krizus A, Khodr N, Brown RH, McKenna-Yasek D, Antonarakis SE. Identification of flanking markers for the familial amyotrophic lateral sclerosis gene ALS1 on chromosome 21. Journal of the Neurological Sciences. 124: 90-5. PMID 7807155 DOI: 10.1016/0022-510X(94)90190-2 |
0.302 |
|
1993 |
Rosen DR, Siddique T, Patterson D, Figlewicz DA, Sapp P, Hentati A, Donaldson D, Goto J, O'Regan JP, Deng HX. Mutations in Cu/Zn superoxide dismutase gene are associated with familial amyotrophic lateral sclerosis. Nature. 362: 59-62. PMID 8446170 DOI: 10.1038/362059a0 |
0.366 |
|
1993 |
Goto J, Figlewicz DA, Haines JL, Brown RH, Khodr N, Rouleau GA. The glycinamide ribonucleotide transformylase (GART) gene is not responsible for familial amyotrophic lateral sclerosis. Neuromuscular Disorders : Nmd. 3: 157-60. PMID 8358240 DOI: 10.1016/0960-8966(93)90008-8 |
0.341 |
|
1993 |
Cochius JI, Figlewicz DA, Kälviäinen R, Nousiainen U, Farrell K, Patry G, Söderfeldt B, Frydman M, Lerman P, Andermann F. Unverricht-Lundborg disease: absence of nonallelic genetic heterogeneity. Annals of Neurology. 34: 739-41. PMID 8239570 DOI: 10.1002/Ana.410340519 |
0.324 |
|
1991 |
Siddique T, Figlewicz DA, Pericak-Vance MA, Haines JL, Rouleau G, Jeffers AJ, Sapp P, Hung WY, Bebout J, McKenna-Yasek D. Linkage of a gene causing familial amyotrophic lateral sclerosis to chromosome 21 and evidence of genetic-locus heterogeneity. The New England Journal of Medicine. 324: 1381-4. PMID 2020294 DOI: 10.1056/Nejm199105163242001 |
0.408 |
|
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