| Year |
Citation |
Score |
| 2020 |
Coratti G, Lucibello S, Pera MC, Duong T, Muni Lofra R, Civitello M, D'Amico A, Goemans N, Darras BT, Bruno C, Sansone VA, Day J, Nascimento Osorio A, Muntoni F, Montes J, et al. Gain and loss of abilities in type II SMA: A 12-month natural history study. Neuromuscular Disorders : Nmd. PMID 32893082 DOI: 10.1016/J.Nmd.2020.07.004 |
0.323 |
|
| 2020 |
Finkel RS, Day JW, De Vivo DC, Kirschner J, Mercuri E, Muntoni F, Shieh PB, Tizzano E, Desguerre I, Quijano-Roy S, Saito K, Droege M, Dabbous O, Khan F, Renault L, et al. RESTORE: A Prospective Multinational Registry of Patients with Genetically Confirmed Spinal Muscular Atrophy - Rationale and Study Design. Journal of Neuromuscular Diseases. PMID 32039859 DOI: 10.3233/Jnd-190451 |
0.32 |
|
| 2019 |
Tao F, Beecham GW, Rebelo AP, Blanton SH, Moran JJ, Lopez-Anido C, Svaren J, Abreu L, Rizzo D, Kirk CA, Wu X, Feely S, Verhamme C, Saporta MA, Herrmann DN, ... Day JW, et al. Modifier Gene Candidates in Charcot-Marie-Tooth Disease Type 1A: A Case-Only Genome-Wide Association Study. Journal of Neuromuscular Diseases. PMID 30958311 DOI: 10.3233/Jnd-190377 |
0.306 |
|
| 2019 |
Tao F, Beecham GW, Rebelo AP, Blanton SH, Moran JJ, Lopez-Anido C, Svaren J, Morrow JM, Abreu L, Rizzo D, Kirk CA, Wu X, Feely S, Verhamme C, Saporta MA, ... ... Day JW, et al. Variation in SIPA1L2 is Correlated with Phenotype Modification in CMT Type 1A. Annals of Neurology. PMID 30706531 DOI: 10.1002/Ana.25426 |
0.314 |
|
| 2019 |
Pera MC, Coratti G, Mazzone ES, Montes J, Scoto M, De Sanctis R, Main M, Mayhew A, Muni Lofra R, Dunaway Young S, Glanzman AM, Duong T, Pasternak A, Ramsey D, Darras B, ... Day JW, et al. Revised Upper Limb Module for Spinal Muscular Atrophy: 12 month changes. Muscle & Nerve. PMID 30677148 DOI: 10.1002/Mus.26419 |
0.308 |
|
| 2019 |
Shell R, Day J, Chiriboga C, Crawford T, Darras B, Finkel R, Connolly A, Iannaccone S, Kuntz N, Peña L, Shieh P, Smith E, Kausar I, Schultz M, Feltner D, et al. S61 Onasemnogene abeparvovec gene-replacement therapy (GRT) for spinal muscular atrophy type 1 (SMA1): preliminary pulmonary and ventilatory findings from the phase 3 study (STR1VE) Thorax. 74. DOI: 10.1136/Thorax-2019-Btsabstracts2019.67 |
0.34 |
|
| 2019 |
Day JW, Chiriboga CA, Crawford TO, Darras BT, Finkel RS, Connolly AM, Iannaccone ST, Kuntz NL, Pena LD, Schultz M, Shieh PB, Smith EC, Farrar M, Feltner DE, Ogrinc FG, et al. 066 Avxs-101 gene-replacement therapy (GRT) for spinal muscular atrophy type 1 (SMA1): pivotal phase 3 study (STR1VE) update Journal of Neurology, Neurosurgery & Psychiatry. 90: A22.1-A22. DOI: 10.1136/Jnnp-2019-Anzan.58 |
0.343 |
|
| 2019 |
Day JW, Chiriboga CA, Crawford TO, Darras BT, Finkel RS, Connolly AM, Iannaccone ST, Kuntz NL, Peña LD, Schultz M, Shieh PB, Smith EC, Kausar I, Feltner DE, Ogrinc FG, et al. 250 AVXS-101 phase 3 study in spinal muscular atrophy type 1 Journal of Neurology, Neurosurgery, and Psychiatry. 90. DOI: 10.1136/Jnnp-2019-Abn-2.202 |
0.323 |
|
| 2019 |
Ramsey D, Scoto M, Mayhew A, Lofra RM, Main M, Milev E, Mazzone E, Montes J, Glanzman A, Pasternak A, Duong T, Civitello M, Coratti G, Straub V, Day J, et al. P.220The revised Hammersmith scale (RHS) for spinal muscular atrophy: longitudinal trajectories in a large international cohort of patients with type 2 and 3 SMA Neuromuscular Disorders. 29. DOI: 10.1016/J.Nmd.2019.06.334 |
0.311 |
|
| 2018 |
Wang ET, Treacy D, Eichinger K, Struck A, Estabrook J, Olafson H, Wang TT, Bhatt K, Westbrook T, Sedehizadeh S, Ward A, Day J, Brook D, Berglund JA, Cooper T, et al. Transcriptome alterations in myotonic dystrophy skeletal muscle and heart. Human Molecular Genetics. PMID 30561649 DOI: 10.1093/Hmg/Ddy432 |
0.311 |
|
| 2018 |
Salazar R, Montes J, Dunaway Young S, McDermott MP, Martens W, Pasternak A, Quigley J, Mirek E, Glanzman AM, Civitello M, Gee R, Duong T, Mazzone ES, Main M, Mayhew A, ... ... Day JW, et al. Quantitative Evaluation of Lower Extremity Joint Contractures in Spinal Muscular Atrophy: Implications for Motor Function. Pediatric Physical Therapy : the Official Publication of the Section On Pediatrics of the American Physical Therapy Association. 30: 209-215. PMID 29924070 DOI: 10.1097/Pep.0000000000000515 |
0.3 |
|
| 2018 |
Diaz-Manera J, Fernandez-Torron R, LLauger J, James MK, Mayhew A, Smith FE, Moore UR, Blamire AM, Carlier PG, Rufibach L, Mittal P, Eagle M, Jacobs M, Hodgson T, Wallace D, ... ... Day JW, et al. Muscle MRI in patients with dysferlinopathy: pattern recognition and implications for clinical trials. Journal of Neurology, Neurosurgery, and Psychiatry. PMID 29735511 DOI: 10.1136/Jnnp-2017-317488 |
0.306 |
|
| 2018 |
Glascock J, Sampson J, Haidet-Phillips A, Connolly A, Darras B, Day J, Finkel R, Howell RR, Klinger K, Kuntz N, Prior T, Shieh PB, Crawford T, Kerr D, Jarecki J. Treatment Algorithm for Infants Diagnosed with Spinal Muscular Atrophy through Newborn Screening. Journal of Neuromuscular Diseases. PMID 29614695 DOI: 10.3233/Jnd-180304 |
0.322 |
|
| 2018 |
Hahn SH, Kronn D, Leslie ND, Pena LDM, Tanpaiboon P, Gambello MJ, Gibson JB, Hillman R, Stockton DW, Day JW, Wang RY, An Haack K, Shafi R, Sparks S, Zhao Y, et al. Efficacy, safety profile, and immunogenicity of alglucosidase alfa produced at the 4,000-liter scale in US children and adolescents with Pompe disease: ADVANCE, a phase IV, open-label, prospective study. Genetics in Medicine : Official Journal of the American College of Medical Genetics. PMID 29565424 DOI: 10.1038/Gim.2018.2 |
0.314 |
|
| 2018 |
Yucel N, Chang AC, Day JW, Rosenthal N, Blau HM. Humanizing the mdx mouse model of DMD: the long and the short of it. Npj Regenerative Medicine. 3: 4. PMID 29479480 DOI: 10.1038/S41536-018-0045-4 |
0.384 |
|
| 2018 |
Orengo JP, Khemani P, Day JW, Li J, Siskind CE. Charcot Marie Tooth disease type 4J with complex central nervous system features. Annals of Clinical and Translational Neurology. 5: 222-225. PMID 29468183 DOI: 10.1002/Acn3.525 |
0.316 |
|
| 2017 |
Pera MC, Coratti G, Forcina N, Mazzone ES, Scoto M, Montes J, Pasternak A, Mayhew A, Messina S, Sframeli M, Main M, Lofra RM, Duong T, Ramsey D, Dunaway S, ... ... Day J, et al. Content validity and clinical meaningfulness of the HFMSE in spinal muscular atrophy. Bmc Neurology. 17: 39. PMID 28231823 DOI: 10.1186/S12883-017-0790-9 |
0.33 |
|
| 2017 |
Ramsey D, Scoto M, Mayhew A, Main M, Mazzone ES, Montes J, de Sanctis R, Dunaway Young S, Salazar R, Glanzman AM, Pasternak A, Quigley J, Mirek E, Duong T, Gee R, ... ... Day J, et al. Revised Hammersmith Scale for spinal muscular atrophy: A SMA specific clinical outcome assessment tool. Plos One. 12: e0172346. PMID 28222119 DOI: 10.1371/Journal.Pone.0172346 |
0.327 |
|
| 2016 |
Mazzone ES, Mayhew A, Montes J, Ramsey D, Fanelli L, Dunaway Young S, Salazar R, De Sanctis R, Pasternak A, Glanzman A, Coratti G, Civitello M, Forcina N, Gee R, Duong T, ... ... Day JW, et al. Revised upper limb module for spinal muscular atrophy: Development of a new module. Muscle & Nerve. PMID 27701745 DOI: 10.1002/Mus.25430 |
0.318 |
|
| 2016 |
Turan S, Farruggio AP, Srifa W, Day JW, Calos MP. Precise correction of disease mutations in induced pluripotent stem cells derived from patients with limb girdle muscular dystrophy. Molecular Therapy : the Journal of the American Society of Gene Therapy. PMID 26916285 DOI: 10.1038/Mt.2016.40 |
0.311 |
|
| 2015 |
Sanmaneechai O, Feely S, Scherer SS, Herrmann DN, Burns J, Muntoni F, Li J, Siskind CE, Day JW, Laura M, Sumner CJ, Lloyd TE, Ramchandren S, Shy RR, Grider T, et al. Genotype-phenotype characteristics and baseline natural history of heritable neuropathies caused by mutations in the MPZ gene. Brain : a Journal of Neurology. 138: 3180-92. PMID 26310628 DOI: 10.1093/Brain/Awv241 |
0.372 |
|
| 2015 |
Findlay AR, Wein N, Kaminoh Y, Taylor LE, Dunn DM, Mendell JR, King WM, Pestronk A, Florence JM, Mathews KD, Finkel RS, Swoboda KJ, Howard MT, Day JW, McDonald C, et al. Clinical phenotypes as predictors of the outcome of skipping around DMD exon 45. Annals of Neurology. 77: 668-74. PMID 25612243 DOI: 10.1002/Ana.24365 |
0.357 |
|
| 2015 |
Fridman V, Bundy B, Reilly MM, Pareyson D, Bacon C, Burns J, Day J, Feely S, Finkel RS, Grider T, Kirk CA, Herrmann DN, Laurá M, Li J, Lloyd T, et al. CMT subtypes and disease burden in patients enrolled in the Inherited Neuropathies Consortium natural history study: a cross-sectional analysis. Journal of Neurology, Neurosurgery, and Psychiatry. 86: 873-8. PMID 25430934 DOI: 10.1136/Jnnp-2014-308826 |
0.358 |
|
| 2014 |
Bushby K, Finkel R, Wong B, Barohn R, Campbell C, Comi GP, Connolly AM, Day JW, Flanigan KM, Goemans N, Jones KJ, Mercuri E, Quinlivan R, Renfroe JB, Russman B, et al. Ataluren treatment of patients with nonsense mutation dystrophinopathy. Muscle & Nerve. 50: 477-87. PMID 25042182 DOI: 10.1002/Mus.24332 |
0.306 |
|
| 2014 |
Couthouis J, Raphael AR, Siskind C, Findlay AR, Buenrostro JD, Greenleaf WJ, Vogel H, Day JW, Flanigan KM, Gitler AD. Exome sequencing identifies a DNAJB6 mutation in a family with dominantly-inherited limb-girdle muscular dystrophy. Neuromuscular Disorders : Nmd. 24: 431-5. PMID 24594375 DOI: 10.1016/J.Nmd.2014.01.014 |
0.329 |
|
| 2013 |
Hilbert JE, Ashizawa T, Day JW, Luebbe EA, Martens WB, McDermott MP, Tawil R, Thornton CA, Moxley RT. Diagnostic odyssey of patients with myotonic dystrophy. Journal of Neurology. 260: 2497-504. PMID 23807151 DOI: 10.1007/S00415-013-6993-0 |
0.312 |
|
| 2013 |
Flanigan KM, Ceco E, Lamar KM, Kaminoh Y, Dunn DM, Mendell JR, King WM, Pestronk A, Florence JM, Mathews KD, Finkel RS, Swoboda KJ, Gappmaier E, Howard MT, Day JW, et al. LTBP4 genotype predicts age of ambulatory loss in Duchenne muscular dystrophy. Annals of Neurology. 73: 481-8. PMID 23440719 DOI: 10.1002/Ana.23819 |
0.311 |
|
| 2010 |
de Greef JC, Lemmers RJ, Camaño P, Day JW, Sacconi S, Dunand M, van Engelen BG, Kiuru-Enari S, Padberg GW, Rosa AL, Desnuelle C, Spuler S, Tarnopolsky M, Venance SL, Frants RR, et al. Clinical features of facioscapulohumeral muscular dystrophy 2. Neurology. 75: 1548-54. PMID 20975055 DOI: 10.1212/Wnl.0B013E3181F96175 |
0.31 |
|
| 2009 |
Flanigan KM, Dunn DM, von Niederhausern A, Soltanzadeh P, Gappmaier E, Howard MT, Sampson JB, Mendell JR, Wall C, King WM, Pestronk A, Florence JM, Connolly AM, Mathews KD, Stephan CM, ... ... Day JW, et al. Mutational spectrum of DMD mutations in dystrophinopathy patients: application of modern diagnostic techniques to a large cohort. Human Mutation. 30: 1657-66. PMID 19937601 DOI: 10.1002/Humu.21114 |
0.301 |
|
| 2008 |
Day JW. Congenital muscular dystrophy in a new age. Neurology. 71: 308-9. PMID 18663176 DOI: 10.1212/01.Wnl.0000319661.70648.9B |
0.324 |
|
| 2008 |
Saito T, Amakusa Y, Kimura T, Yahara O, Aizawa H, Ikeda Y, Day JW, Ranum LP, Ohno K, Matsuura T. Myotonic dystrophy type 2 in Japan: ancestral origin distinct from Caucasian families. Neurogenetics. 9: 61-3. PMID 18057971 DOI: 10.1007/S10048-007-0110-4 |
0.327 |
|
| 2006 |
Moseley ML, Zu T, Ikeda Y, Gao W, Mosemiller AK, Daughters RS, Chen G, Weatherspoon MR, Clark HB, Ebner TJ, Day JW, Ranum LP. Bidirectional expression of CUG and CAG expansion transcripts and intranuclear polyglutamine inclusions in spinocerebellar ataxia type 8. Nature Genetics. 38: 758-69. PMID 16804541 DOI: 10.1038/Ng1827 |
0.301 |
|
| 2006 |
Margolis JM, Schoser BG, Moseley ML, Day JW, Ranum LP. DM2 intronic expansions: evidence for CCUG accumulation without flanking sequence or effects on ZNF9 mRNA processing or protein expression. Human Molecular Genetics. 15: 1808-15. PMID 16624843 DOI: 10.1093/Hmg/Ddl103 |
0.315 |
|
| 2005 |
Day JW, Ranum LP. Genetics and molecular pathogenesis of the myotonic dystrophies. Current Neurology and Neuroscience Reports. 5: 55-9. PMID 15676109 DOI: 10.1007/S11910-005-0024-1 |
0.318 |
|
| 2005 |
Day JW, Ranum LP. RNA pathogenesis of the myotonic dystrophies. Neuromuscular Disorders : Nmd. 15: 5-16. PMID 15639115 DOI: 10.1016/J.Nmd.2004.09.012 |
0.317 |
|
| 2004 |
Ikeda Y, Dalton JC, Moseley ML, Gardner KL, Bird TD, Ashizawa T, Seltzer WK, Pandolfo M, Milunsky A, Potter NT, Shoji M, Vincent JB, Day JW, Ranum LP. Spinocerebellar ataxia type 8: molecular genetic comparisons and haplotype analysis of 37 families with ataxia. American Journal of Human Genetics. 75: 3-16. PMID 15152344 DOI: 10.1086/422014 |
0.304 |
|
| 2004 |
Ranum LP, Day JW. Myotonic dystrophy: RNA pathogenesis comes into focus. American Journal of Human Genetics. 74: 793-804. PMID 15065017 DOI: 10.1086/383590 |
0.364 |
|
| 2003 |
Mosemiller AK, Dalton JC, Day JW, Ranum LP. Molecular genetics of spinocerebellar ataxia type 8 (SCA8). Cytogenetic and Genome Research. 100: 175-83. PMID 14526178 DOI: 10.1159/000072852 |
0.315 |
|
| 2003 |
Liquori CL, Ikeda Y, Weatherspoon M, Ricker K, Schoser BG, Dalton JC, Day JW, Ranum LP. Myotonic dystrophy type 2: human founder haplotype and evolutionary conservation of the repeat tract. American Journal of Human Genetics. 73: 849-62. PMID 14505273 DOI: 10.1086/378720 |
0.301 |
|
| 2003 |
Ashok Muley S, Day JW. Autoimmune rippling muscle. Neurology. 61: 869-70. PMID 14504350 DOI: 10.1212/01.Wnl.0000068529.36993.03 |
0.329 |
|
| 2003 |
Udd B, Meola G, Krahe R, Thornton C, Ranum L, Day J, Bassez G, Ricker K. Report of the 115th ENMC workshop: DM2/PROMM and other myotonic dystrophies. 3rd Workshop, 14-16 February 2003, Naarden, The Netherlands. Neuromuscular Disorders : Nmd. 13: 589-96. PMID 12921797 DOI: 10.1016/S0960-8966(03)00092-0 |
0.347 |
|
| 2003 |
Day JW, Ricker K, Jacobsen JF, Rasmussen LJ, Dick KA, Kress W, Schneider C, Koch MC, Beilman GJ, Harrison AR, Dalton JC, Ranum LP. Myotonic dystrophy type 2: molecular, diagnostic and clinical spectrum. Neurology. 60: 657-64. PMID 12601109 DOI: 10.1212/01.Wnl.0000054481.84978.F9 |
0.312 |
|
| 2002 |
Ranum LP, Day JW. Myotonic dystrophy: clinical and molecular parallels between myotonic dystrophy type 1 and type 2. Current Neurology and Neuroscience Reports. 2: 465-70. PMID 12169228 DOI: 10.1007/S11910-002-0074-6 |
0.365 |
|
| 2002 |
Ranum LP, Day JW. Dominantly inherited, non-coding microsatellite expansion disorders. Current Opinion in Genetics & Development. 12: 266-71. PMID 12076668 DOI: 10.1016/S0959-437X(02)00297-6 |
0.339 |
|
| 2001 |
Liquori CL, Ricker K, Moseley ML, Jacobsen JF, Kress W, Naylor SL, Day JW, Ranum LP. Myotonic dystrophy type 2 caused by a CCTG expansion in intron 1 of ZNF9. Science (New York, N.Y.). 293: 864-7. PMID 11486088 DOI: 10.1126/Science.1062125 |
0.32 |
|
| 2000 |
Ashizawa T, Gonzales I, Ohsawa N, Singer RH, Devillers M, Balasubramanyam A, Cooper TA, Khajavi M, Lia-Baldini AS, Miller G, Philips AV, Timchenko LT, Waring J, Yamagata H, Barbet JP, ... ... Day JW, et al. New nomenclature and DNA testing guidelines for myotonic dystrophy type 1 (DM1) Neurology. 54: 1218-1221. PMID 10746587 DOI: 10.1212/Wnl.54.6.1218 |
0.318 |
|
| 1999 |
Koob MD, Moseley ML, Schut LJ, Benzow KA, Bird TD, Day JW, Ranum LP. An untranslated CTG expansion causes a novel form of spinocerebellar ataxia (SCA8) Nature Genetics. 21: 379-84. PMID 10192387 DOI: 10.1038/7710 |
0.305 |
|
| 1999 |
Day JW, Roelofs R, Leroy B, Pech I, Benzow K, Ranum LP. Clinical and genetic characteristics of a five-generation family with a novel form of myotonic dystrophy (DM2). Neuromuscular Disorders : Nmd. 9: 19-27. PMID 10063831 DOI: 10.1016/S0960-8966(98)00094-7 |
0.328 |
|
| 1998 |
Ranum LP, Rasmussen PF, Benzow KA, Koob MD, Day JW. Genetic mapping of a second myotonic dystrophy locus. Nature Genetics. 19: 196-8. PMID 9620781 DOI: 10.1038/570 |
0.332 |
|
| 1997 |
Gomez CM, Maselli R, Gundeck JE, Chao M, Day JW, Tamamizu S, Lasalde JA, McNamee M, Wollmann RL. Slow-channel transgenic mice: a model of postsynaptic organellar degeneration at the neuromuscular junction. The Journal of Neuroscience : the Official Journal of the Society For Neuroscience. 17: 4170-9. PMID 9151734 DOI: 10.1523/Jneurosci.17-11-04170.1997 |
0.31 |
|
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