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Autosomal recessive cerebellar hypoplasia.
Mathews KD, Afifi AK, Hanson JW. Mathews KD, et al. J Child Neurol. 1989 Jul;4(3):189-94. doi: 10.1177/088307388900400307. J Child Neurol. 1989. PMID: 2768782
Hypertensive encephalopathy in childhood.
Wright RR, Mathews KD. Wright RR, et al. Among authors: mathews kd. J Child Neurol. 1996 May;11(3):193-6. doi: 10.1177/088307389601100305. J Child Neurol. 1996. PMID: 8734020
Limb-girdle muscular dystrophies.
Piccolo F, Moore SA, Mathews KD, Campbell KP. Piccolo F, et al. Among authors: mathews kd. Adv Neurol. 2002;88:273-91. Adv Neurol. 2002. PMID: 11908231 Review. No abstract available.
Limb-girdle muscular dystrophy.
Mathews KD, Moore SA. Mathews KD, et al. Curr Neurol Neurosci Rep. 2003 Jan;3(1):78-85. doi: 10.1007/s11910-003-0042-9. Curr Neurol Neurosci Rep. 2003. PMID: 12507416 Review.
Mutational spectrum of DMD mutations in dystrophinopathy patients: application of modern diagnostic techniques to a large cohort.
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, Laubenthal KS, Wong BL, Morehart PJ, Meyer A, Finkel RS, Bonnemann CG, Medne L, Day JW, Dalton JC, Margolis MK, Hinton VJ; United Dystrophinopathy Project Consortium; Weiss RB. Flanigan KM, et al. Among authors: mathews kd. Hum Mutat. 2009 Dec;30(12):1657-66. doi: 10.1002/humu.21114. Hum Mutat. 2009. PMID: 19937601 Free PMC article.
ISPD loss-of-function mutations disrupt dystroglycan O-mannosylation and cause Walker-Warburg syndrome.
Willer T, Lee H, Lommel M, Yoshida-Moriguchi T, de Bernabe DB, Venzke D, Cirak S, Schachter H, Vajsar J, Voit T, Muntoni F, Loder AS, Dobyns WB, Winder TL, Strahl S, Mathews KD, Nelson SF, Moore SA, Campbell KP. Willer T, et al. Among authors: mathews kd. Nat Genet. 2012 May;44(5):575-80. doi: 10.1038/ng.2252. Nat Genet. 2012. PMID: 22522420 Free PMC article.
159 results