Humphreys P - Search Results

1

Association of Early-Onset Spasticity and Risk for Cognitive Impairment With Mutations at Amino Acid 499 in SPAST.

Gillespie MK, Humphreys P, McMillan HJ, Boycott KM. Gillespie MK, et al. Among authors: humphreys p. J Child Neurol. 2018 Apr;33(5):329-332. doi: 10.1177/0883073818756680. Epub 2018 Feb 8. J Child Neurol. 2018. PMID: 29421991 Review.

2

Congenital Visual Impairment and Progressive Microcephaly Due to Lysyl-Transfer Ribonucleic Acid (RNA) Synthetase (KARS) Mutations: The Expanding Phenotype of Aminoacyl-Transfer RNA Synthetase Mutations in Human Disease.

McMillan HJ, Humphreys P, Smith A, Schwartzentruber J, Chakraborty P, Bulman DE, Beaulieu CL; FORGE Canada Consortium; Majewski J, Boycott KM, Geraghty MT. McMillan HJ, et al. Among authors: humphreys p. J Child Neurol. 2015 Jul;30(8):1037-43. doi: 10.1177/0883073814553272. Epub 2014 Oct 20. J Child Neurol. 2015. PMID: 25330800

3

Adolescent onset cognitive regression and neuropsychiatric symptoms associated with the A140V MECP2 mutation.

Venkateswaran S, McMillan HJ, Doja A, Humphreys P. Venkateswaran S, et al. Among authors: humphreys p. Dev Med Child Neurol. 2014 Jan;56(1):91-4. doi: 10.1111/dmcn.12334. Epub 2013 Nov 15. Dev Med Child Neurol. 2014. PMID: 24328834 Free article.

4

Fitzsimmons syndrome: spastic paraplegia, brachydactyly and cognitive impairment.

Armour CM, Humphreys P, Hennekam RC, Boycott KM. Armour CM, et al. Among authors: humphreys p. Am J Med Genet A. 2009 Oct;149A(10):2254-7. doi: 10.1002/ajmg.a.33003. Am J Med Genet A. 2009. PMID: 19760657

5

Ophthalmoplegic migraine: inflammatory neuropathy with secondary migraine?

McMillan HJ, Keene DL, Jacob P, Humphreys P. McMillan HJ, et al. Among authors: humphreys p. Can J Neurol Sci. 2007 Aug;34(3):349-55. doi: 10.1017/s0317167100006818. Can J Neurol Sci. 2007. PMID: 17803036 Review.

6

Homozygous nonsense mutation in SYNJ1 associated with intractable epilepsy and tau pathology.

Dyment DA, Smith AC, Humphreys P, Schwartzentruber J, Beaulieu CL; FORGE Canada Consortium; Bulman DE, Majewski J, Woulfe J, Michaud J, Boycott KM. Dyment DA, et al. Among authors: humphreys p. Neurobiol Aging. 2015 Feb;36(2):1222.e1-5. doi: 10.1016/j.neurobiolaging.2014.09.005. Epub 2014 Sep 6. Neurobiol Aging. 2015. PMID: 25316601

7

Clinical delineation of GTPBP2-associated neuro-ectodermal syndrome: Report of two new families and review of the literature.

Carter MT, Venkateswaran S, Shapira-Zaltsberg G, Davila J, Humphreys P; Care4Rare Canada Consortium; Kernohan KD, Boycott KM. Carter MT, et al. Among authors: humphreys p. Clin Genet. 2019 May;95(5):601-606. doi: 10.1111/cge.13523. Epub 2019 Mar 19. Clin Genet. 2019. PMID: 30790272 Review.

8

Factors associated with epilepsy in children with periventricular leukomalacia.

Humphreys P, Deonandan R, Whiting S, Barrowman N, Matzinger MA, Briggs V, Hurteau J, Wallace E. Humphreys P, et al. J Child Neurol. 2007 May;22(5):598-605. doi: 10.1177/0883073807302599. J Child Neurol. 2007. PMID: 17690068

9

Measuring gross motor activities in Rett syndrome.

Humphreys P. Humphreys P. Dev Med Child Neurol. 2015 Dec;57(12):1086-7. doi: 10.1111/dmcn.12848. Epub 2015 Jul 22. Dev Med Child Neurol. 2015. PMID: 26201858 Free article. No abstract available.

10

What are the reasons for improved survival following spine fusion for severe scoliosis in Rett syndrome?

Humphreys P. Humphreys P. Dev Med Child Neurol. 2016 Jun;58(6):538-9. doi: 10.1111/dmcn.12993. Epub 2015 Dec 11. Dev Med Child Neurol. 2016. PMID: 26661711 Free article. No abstract available.

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