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Items: 1 to 20 of 25


Exploration of the Brain in Rest: Resting-State Functional MRI Abnormalities in Patients with Classic Galactosemia.

van Erven B, Jansma BM, Rubio-Gozalbo ME, Timmers I.

Sci Rep. 2017 Aug 22;7(1):9095. doi: 10.1038/s41598-017-09242-w.


A Diagnostic Marker to Discriminate Childhood Apraxia of Speech From Speech Delay: II. Validity Studies of the Pause Marker.

Shriberg LD, Strand EA, Fourakis M, Jakielski KJ, Hall SD, Karlsson HB, Mabie HL, McSweeny JL, Tilkens CM, Wilson DL.

J Speech Lang Hear Res. 2017 Apr 14;60(4):S1118-S1134. doi: 10.1044/2016_JSLHR-S-15-0297.


A Diagnostic Marker to Discriminate Childhood Apraxia of Speech From Speech Delay: I. Development and Description of the Pause Marker.

Shriberg LD, Strand EA, Fourakis M, Jakielski KJ, Hall SD, Karlsson HB, Mabie HL, McSweeny JL, Tilkens CM, Wilson DL.

J Speech Lang Hear Res. 2017 Apr 14;60(4):S1096-S1117. doi: 10.1044/2016_JSLHR-S-15-0296. Review.


An exploratory study of the influence of load and practice on segmental and articulatory variability in children with speech sound disorders.

Vuolo J, Goffman L.

Clin Linguist Phon. 2017;31(5):331-350. doi: 10.1080/02699206.2016.1261184. Epub 2016 Dec 14.


Neuroanatomical correlates of childhood apraxia of speech: A connectomic approach.

Fiori S, Guzzetta A, Mitra J, Pannek K, Pasquariello R, Cipriani P, Tosetti M, Cioni G, Rose SE, Chilosi A.

Neuroimage Clin. 2016 Nov 4;12:894-901. eCollection 2016.


Genetic Candidate Variants in Two Multigenerational Families with Childhood Apraxia of Speech.

Peter B, Wijsman EM, Nato AQ Jr; University of Washington Center for Mendelian Genomics, Matsushita MM, Chapman KL, Stanaway IB, Wolff J, Oda K, Gabo VB, Raskind WH.

PLoS One. 2016 Apr 27;11(4):e0153864. doi: 10.1371/journal.pone.0153864. eCollection 2016.


White matter microstructure pathology in classic galactosemia revealed by neurite orientation dispersion and density imaging.

Timmers I, Zhang H, Bastiani M, Jansma BM, Roebroeck A, Rubio-Gozalbo ME.

J Inherit Metab Dis. 2015 Mar;38(2):295-304. doi: 10.1007/s10545-014-9780-x. Epub 2014 Oct 25.


Data-driven subclassification of speech sound disorders in preschool children.

Vick JC, Campbell TF, Shriberg LD, Green JR, Truemper K, Rusiewicz HL, Moore CA.

J Speech Lang Hear Res. 2014 Dec;57(6):2033-50. doi: 10.1044/2014_JSLHR-S-12-0193.


Whole-exome sequencing supports genetic heterogeneity in childhood apraxia of speech.

Worthey EA, Raca G, Laffin JJ, Wilk BM, Harris JM, Jakielski KJ, Dimmock DP, Strand EA, Shriberg LD.

J Neurodev Disord. 2013 Oct 2;5(1):29. doi: 10.1186/1866-1955-5-29.


Neurogenomics of speech and language disorders: the road ahead.

Deriziotis P, Fisher SE.

Genome Biol. 2013 Apr 18;14(4):204. doi: 10.1186/gb-2013-14-4-204. Review.


Motor and speech disorders in classic galactosemia.

Potter NL, Nievergelt Y, Shriberg LD.

JIMD Rep. 2013;11:31-41. doi: 10.1007/8904_2013_219. Epub 2013 Apr 2.


Deficits in sequential processing manifest in motor and linguistic tasks in a multigenerational family with childhood apraxia of speech.

Peter B, Button L, Stoel-Gammon C, Chapman K, Raskind WH.

Clin Linguist Phon. 2013 Mar;27(3):163-91. doi: 10.3109/02699206.2012.736011. Epub 2013 Jan 22.


Associations among measures of sequential processing in motor and linguistics tasks in adults with and without a family history of childhood apraxia of speech: a replication study.

Button L, Peter B, Stoel-Gammon C, Raskind WH.

Clin Linguist Phon. 2013 Mar;27(3):192-212. doi: 10.3109/02699206.2012.744097. Epub 2013 Jan 22.


Cryptic residual GALT activity is a potential modifier of scholastic outcome in school age children with classic galactosemia.

Ryan EL, Lynch ME, Taddeo E, Gleason TJ, Epstein MP, Fridovich-Keil JL.

J Inherit Metab Dis. 2013 Nov;36(6):1049-61. doi: 10.1007/s10545-012-9575-x. Epub 2013 Jan 15.


From mind to mouth: event related potentials of sentence production in classic galactosemia.

Timmers I, Jansma BM, Rubio-Gozalbo ME.

PLoS One. 2012;7(12):e52826. doi: 10.1371/journal.pone.0052826. Epub 2012 Dec 26.


Childhood Apraxia of Speech (CAS) in two patients with 16p11.2 microdeletion syndrome.

Raca G, Baas BS, Kirmani S, Laffin JJ, Jackson CA, Strand EA, Jakielski KJ, Shriberg LD.

Eur J Hum Genet. 2013 Apr;21(4):455-9. doi: 10.1038/ejhg.2012.165. Epub 2012 Aug 22.


Novel candidate genes and regions for childhood apraxia of speech identified by array comparative genomic hybridization.

Laffin JJ, Raca G, Jackson CA, Strand EA, Jakielski KJ, Shriberg LD.

Genet Med. 2012 Nov;14(11):928-36. doi: 10.1038/gim.2012.72. Epub 2012 Jul 5. Erratum in: Genet Med. 2013 Jul;15(7):587-8.


Encoding, memory, and transcoding deficits in Childhood Apraxia of Speech.

Shriberg LD, Lohmeier HL, Strand EA, Jakielski KJ.

Clin Linguist Phon. 2012 May;26(5):445-82. doi: 10.3109/02699206.2012.655841.


Phenotype of FOXP2 haploinsufficiency in a mother and son.

Rice GM, Raca G, Jakielski KJ, Laffin JJ, Iyama-Kurtycz CM, Hartley SL, Sprague RE, Heintzelman AT, Shriberg LD.

Am J Med Genet A. 2012 Jan;158A(1):174-81. doi: 10.1002/ajmg.a.34354. Epub 2011 Nov 21.

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