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Katherine Mathews
Katherine Mathews
Professor of Pediatrics and Neurology, University of Iowa
uiowa.edu의 이메일 확인됨
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Post-translational disruption of dystroglycan–ligand interactions in congenital muscular dystrophies
DE Michele, R Barresi, M Kanagawa, F Saito, RD Cohn, JS Satz, J Dollar, ...
Nature 418 (6896), 417-421, 2002
8832002
Clinical evaluation of idiopathic paroxysmal kinesigenic dyskinesia: new diagnostic criteria
MK Bruno, M Hallett, K Gwinn-Hardy, B Sorensen, E Considine, S Tucker, ...
Neurology 63 (12), 2280-2287, 2004
4702004
Ataluren in patients with nonsense mutation Duchenne muscular dystrophy (ACT DMD): a multicentre, randomised, double-blind, placebo-controlled, phase 3 trial
CM McDonald, C Campbell, RE Torricelli, RS Finkel, KM Flanigan, ...
The Lancet 390 (10101), 1489-1498, 2017
4452017
Practice parameter: corticosteroid treatment of Duchenne dystrophy: report of the Quality Standards Subcommittee of the American Academy of Neurology and the Practice Committee …
RT Moxley III, S Ashwal, S Pandya, A Connolly, J Florence, K Mathews, ...
Neurology 64 (1), 13-20, 2005
4212005
Mutational spectrum of DMD mutations in dystrophinopathy patients: application of modern diagnostic techniques to a large cohort
KM Flanigan, DM Dunn, A Von Niederhausern, P Soltanzadeh, ...
Human mutation 30 (12), 1657-1666, 2009
3662009
Diagnostic approach to the congenital muscular dystrophies
CG Bönnemann, CH Wang, S Quijano-Roy, N Deconinck, E Bertini, ...
Neuromuscular disorders 24 (4), 289-311, 2014
3432014
Delayed diagnosis in duchenne muscular dystrophy: data from the Muscular Dystrophy Surveillance, Tracking, and Research Network (MD STARnet)
E Ciafaloni, DJ Fox, S Pandya, CP Westfield, S Puzhankara, PA Romitti, ...
The Journal of pediatrics 155 (3), 380-385, 2009
3012009
Mortality in Friedreich ataxia
AY Tsou, EK Paulsen, SJ Lagedrost, SL Perlman, KD Mathews, ...
Journal of the neurological sciences 307 (1-2), 46-49, 2011
2952011
Expanding the boundaries of RNA sequencing as a diagnostic tool for rare Mendelian disease
HD Gonorazky, S Naumenko, AK Ramani, V Nelakuditi, P Mashouri, ...
The American Journal of Human Genetics 104 (3), 466-483, 2019
2562019
Prevalence of Duchenne and Becker muscular dystrophies in the United States
PA Romitti, Y Zhu, S Puzhankara, KA James, SK Nabukera, GKD Zamba, ...
Pediatrics 135 (3), 513-521, 2015
2512015
Mutations in PHF6 are associated with Börjeson–Forssman–Lehmann syndrome
KM Lower, G Turner, BA Kerr, KD Mathews, MA Shaw, ÁK Gedeon, ...
Nature genetics 32 (4), 661-665, 2002
2462002
LTBP4 genotype predicts age of ambulatory loss in duchenne muscular dystrophy
KM Flanigan, E Ceco, KM Lamar, Y Kaminoh, DM Dunn, JR Mendell, ...
Annals of neurology 73 (4), 481-488, 2013
2422013
ISPD loss-of-function mutations disrupt dystroglycan O-mannosylation and cause Walker-Warburg syndrome
T Willer, H Lee, M Lommel, T Yoshida-Moriguchi, DBV De Bernabe, ...
Nature genetics 44 (5), 575-580, 2012
2382012
Limb-girdle muscular dystrophy in the United States
SA Moore, CJ Shilling, S Westra, C Wall, MP Wicklund, C Stolle, ...
Journal of Neuropathology & Experimental Neurology 65 (10), 995-1003, 2006
1992006
Clinical and genetic characterization of manifesting carriers of DMD mutations
P Soltanzadeh, MJ Friez, D Dunn, A von Niederhausern, OL Gurvich, ...
Neuromuscular Disorders 20 (8), 499-504, 2010
1802010
Putamen lesions and the development of attention-deficit/hyperactivity symptomatology
JE Max, PT Fox, JL Lancaster, P Kochunov, K Mathews, FF Manes, ...
Journal of the American Academy of Child & Adolescent Psychiatry 41 (5), 563-571, 2002
1802002
The DNA rearrangement associated with facioscapulohumeral muscular dystrophy involves a heterochromatin-associated repetitive element: implications for a role of chromatin …
ST Winokur, U Bengtsson, J Feddersen, KD Mathews, B Weiffenbach, ...
Chromosome research 2, 225-234, 1994
1741994
Mutations in SPATA5 are associated with microcephaly, intellectual disability, seizures, and hearing loss
AJ Tanaka, MT Cho, F Millan, J Juusola, K Retterer, C Joshi, D Niyazov, ...
The American Journal of Human Genetics 97 (3), 457-464, 2015
1732015
Consensus-based care recommendations for adults with myotonic dystrophy type 1
T Ashizawa, C Gagnon, WJ Groh, L Gutmann, NE Johnson, G Meola, ...
Neurology: Clinical Practice 8 (6), 507-520, 2018
1632018
Safety and efficacy of omaveloxolone in Friedreich ataxia (MOXIe study)
DR Lynch, MP Chin, MB Delatycki, SH Subramony, M Corti, JC Hoyle, ...
Annals of neurology 89 (2), 212-225, 2021
1572021
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