Search Results - "Simard LR"

Generation of Conditional Knockout Alleles for PRUNE-1.

Authors: Wu X Simard LR Ding H

Source: Cells [Cells] 2023 Feb 06; Vol. 12 (4). Date of Electronic Publication: 2023 Feb 06.

Publication Type: Journal Article; Research Support, Non-U.S. Gov't

Journal Info: Publisher: MDPI Country of Publication: Switzerland NLM ID: 101600052 Publication Model: Electronic Cited Medium: Internet ISSN: 2073-4409 (Electronic) Linking ISSN: 20734409 NLM ISO Abbreviation: Cells Subsets: MEDLINE

A homozygous canonical splice acceptor site mutation in PRUNE1 is responsible for a rare childhood neurodegenerative disease in Manitoba Cree families.

Authors: Hartley JN Simard LR Ly V et al.

Source: American journal of medical genetics. Part A [Am J Med Genet A] 2019 Feb; Vol. 179 (2), pp. 206-218. Date of Electronic Publication: 2018 Dec 17.

Publication Type: Journal Article; Research Support, Non-U.S. Gov't

Journal Info: Publisher: Wiley-Blackwell Country of Publication: United States NLM ID: 101235741 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1552-4833 (Electronic) Linking ISSN: 15524825 NLM ISO Abbreviation: Am J Med Genet A Subsets: MEDLINE

Clinical trial of L-Carnitine and valproic acid in spinal muscular atrophy type I.

Authors: Krosschell KJ Kissel JT Townsend EL et al.

Corporate Authors: Krosschell KJ Kissel JT Townsend EL et al.

Source: Muscle & nerve [Muscle Nerve] 2018 Feb; Vol. 57 (2), pp. 193-199. Date of Electronic Publication: 2017 Sep 18.

Publication Type: Clinical Trial, Phase II; Journal Article; Multicenter Study; Research Support, N.I.H., Extramural; Research Support, Non-U.S. Gov't

Journal Info: Publisher: John Wiley & Sons Country of Publication: United States NLM ID: 7803146 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1097-4598 (Electronic) Linking ISSN: 0148639X NLM ISO Abbreviation: Muscle Nerve Subsets: MEDLINE

SMA valiant trial: a prospective, double-blind, placebo-controlled trial of valproic acid in ambulatory adults with spinal muscular atrophy.

Authors: Kissel JT Elsheikh B King WM et al.

Corporate Authors: Kissel JT Elsheikh B King WM et al.

Source: Muscle & nerve [Muscle Nerve] 2014 Feb; Vol. 49 (2), pp. 187-92.

Publication Type: Clinical Trial, Phase III; Journal Article; Randomized Controlled Trial; Research Support, N.I.H., Extramural; Research Support, Non-U.S. Gov't

Journal Info: Publisher: John Wiley & Sons Country of Publication: United States NLM ID: 7803146 Publication Model: Print Cited Medium: Internet ISSN: 1097-4598 (Electronic) Linking ISSN: 0148639X NLM ISO Abbreviation: Muscle Nerve Subsets: MEDLINE

Solving the puzzle of spinal muscular atrophy: what are the missing pieces?

Authors: Tiziano FD Melki J Simard LR

Source: American journal of medical genetics. Part A [Am J Med Genet A] 2013 Nov; Vol. 161A (11), pp. 2836-45. Date of Electronic Publication: 2013 Oct 03.

Publication Type: Journal Article; Review

Journal Info: Publisher: Wiley-Blackwell Country of Publication: United States NLM ID: 101235741 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1552-4833 (Electronic) Linking ISSN: 15524825 NLM ISO Abbreviation: Am J Med Genet A Subsets: MEDLINE

SMA CARNIVAL TRIAL PART II: a prospective, single-armed trial of L-carnitine and valproic acid in ambulatory children with spinal muscular atrophy.

Authors: Kissel JT Scott CB Reyna SP et al.

Corporate Authors: Kissel JT Scott CB Reyna SP et al.

Source: PloS one [PLoS One] 2011; Vol. 6 (7), pp. e21296. Date of Electronic Publication: 2011 Jul 06.

Publication Type: Clinical Trial, Phase II; Journal Article; Multicenter Study; Research Support, N.I.H., Extramural; Research Support, Non-U.S. Gov't

Journal Info: Publisher: Public Library of Science Country of Publication: United States NLM ID: 101285081 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1932-6203 (Electronic) Linking ISSN: 19326203 NLM ISO Abbreviation: PLoS One Subsets: MEDLINE

SMA CARNI-VAL trial part I: double-blind, randomized, placebo-controlled trial of L-carnitine and valproic acid in spinal muscular atrophy.

Authors: Swoboda KJ Scott CB Crawford TO et al.

Corporate Authors: Swoboda KJ Scott CB Crawford TO et al.

Source: PloS one [PLoS One] 2010 Aug 19; Vol. 5 (8), pp. e12140. Date of Electronic Publication: 2010 Aug 19.

Publication Type: Journal Article; Randomized Controlled Trial; Research Support, N.I.H., Extramural; Research Support, Non-U.S. Gov't

Journal Info: Publisher: Public Library of Science Country of Publication: United States NLM ID: 101285081 Publication Model: Electronic Cited Medium: Internet ISSN: 1932-6203 (Electronic) Linking ISSN: 19326203 NLM ISO Abbreviation: PLoS One Subsets: MEDLINE

Effects of 2,4-diaminoquinazoline derivatives on SMN expression and phenotype in a mouse model for spinal muscular atrophy.

Authors: Butchbach ME Singh J Thorsteinsdóttir M et al.

Source: Human molecular genetics [Hum Mol Genet] 2010 Feb 01; Vol. 19 (3), pp. 454-67. Date of Electronic Publication: 2009 Nov 06.

Publication Type: Journal Article; Research Support, N.I.H., Extramural; Research Support, Non-U.S. Gov't

Journal Info: Publisher: IRL Press at Oxford University Press Country of Publication: England NLM ID: 9208958 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1460-2083 (Electronic) Linking ISSN: 09646906 NLM ISO Abbreviation: Hum Mol Genet Subsets: MEDLINE

Phase II open label study of valproic acid in spinal muscular atrophy.

Authors: Swoboda KJ Scott CB Reyna SP et al.

Source: PloS one [PLoS One] 2009; Vol. 4 (5), pp. e5268. Date of Electronic Publication: 2009 May 14.

Publication Type: Clinical Trial, Phase II; Journal Article; Research Support, N.I.H., Extramural; Research Support, Non-U.S. Gov't

Journal Info: Publisher: Public Library of Science Country of Publication: United States NLM ID: 101285081 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1932-6203 (Electronic) Linking ISSN: 19326203 NLM ISO Abbreviation: PLoS One Subsets: MEDLINE

A newborn with spinal muscular atrophy type 0 presenting with a clinicopathological picture suggestive of myotubular myopathy.

Authors: Nadeau A D'Anjou G Debray G et al.

Source: Journal of child neurology [J Child Neurol] 2007 Nov; Vol. 22 (11), pp. 1301-4.

Publication Type: Case Reports; Journal Article

Journal Info: Publisher: Sage Country of Publication: United States NLM ID: 8606714 Publication Model: Print Cited Medium: Print ISSN: 0883-0738 (Print) Linking ISSN: 08830738 NLM ISO Abbreviation: J Child Neurol Subsets: MEDLINE

Perspectives on clinical trials in spinal muscular atrophy.

Authors: Swoboda KJ Kissel JT Crawford TO et al.

Source: Journal of child neurology [J Child Neurol] 2007 Aug; Vol. 22 (8), pp. 957-66.

Publication Type: Journal Article; Research Support, Non-U.S. Gov't; Review

Journal Info: Publisher: Sage Country of Publication: United States NLM ID: 8606714 Publication Model: Print Cited Medium: Print ISSN: 0883-0738 (Print) Linking ISSN: 08830738 NLM ISO Abbreviation: J Child Neurol Subsets: MEDLINE

The Delta>15 Kb deletion French Canadian founder mutation in familial hypercholesterolemia: rapid polymerase chain reaction-based diagnostic assay and prevalence in Quebec.

Authors: Simard LR Viel J Lambert M et al.

Source: Clinical genetics [Clin Genet] 2004 Mar; Vol. 65 (3), pp. 202-8.

Publication Type: Journal Article; Research Support, Non-U.S. Gov't

Journal Info: Publisher: Munksgaard Country of Publication: Denmark NLM ID: 0253664 Publication Model: Print Cited Medium: Print ISSN: 0009-9163 (Print) Linking ISSN: 00099163 NLM ISO Abbreviation: Clin Genet Subsets: MEDLINE

Spinal muscular atrophy.

Authors: Iannaccone ST Smith SA Simard LR

Source: Current neurology and neuroscience reports [Curr Neurol Neurosci Rep] 2004 Jan; Vol. 4 (1), pp. 74-80.

Publication Type: Journal Article; Research Support, Non-U.S. Gov't; Research Support, U.S. Gov't, P.H.S.; Review

Journal Info: Publisher: Current Science Inc Country of Publication: United States NLM ID: 100931790 Publication Model: Print Cited Medium: Print ISSN: 1528-4042 (Print) Linking ISSN: 15284042 NLM ISO Abbreviation: Curr Neurol Neurosci Rep Subsets: MEDLINE

Survival motor neuron (SMN) protein: role in neurite outgrowth and neuromuscular maturation during neuronal differentiation and development.

Authors: Fan L Simard LR

Source: Human molecular genetics [Hum Mol Genet] 2002 Jul 01; Vol. 11 (14), pp. 1605-14.

Publication Type: Journal Article; Research Support, Non-U.S. Gov't

Journal Info: Publisher: IRL Press at Oxford University Press Country of Publication: England NLM ID: 9208958 Publication Model: Print Cited Medium: Print ISSN: 0964-6906 (Print) Linking ISSN: 09646906 NLM ISO Abbreviation: Hum Mol Genet Subsets: MEDLINE

SMN gene duplication and the emergence of the SMN2 gene occurred in distinct hominids: SMN2 is unique to Homo sapiens.

Authors: Rochette CF Gilbert N Simard LR

Source: Human genetics [Hum Genet] 2001 Mar; Vol. 108 (3), pp. 255-66.

Publication Type: Comparative Study; Journal Article; Research Support, Non-U.S. Gov't

Journal Info: Publisher: Springer Verlag Country of Publication: Germany NLM ID: 7613873 Publication Model: Print Cited Medium: Print ISSN: 0340-6717 (Print) Linking ISSN: 03406717 NLM ISO Abbreviation: Hum Genet Subsets: MEDLINE

Protective effects of butyrate-based compounds on a mouse model for spinal muscular atrophy.

Authors: Butchbach MER Lumpkin CJ Harris AW et al.

Source: Experimental neurology [Exp Neurol] 2016 May; Vol. 279, pp. 13-26. Date of Electronic Publication: 2016 Feb 15.

Publication Type: Journal Article; Research Support, N.I.H., Extramural; Research Support, Non-U.S. Gov't

Journal Info: Publisher: Academic Press Country of Publication: United States NLM ID: 0370712 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1090-2430 (Electronic) Linking ISSN: 00144886 NLM ISO Abbreviation: Exp Neurol Subsets: MEDLINE

Spinal Muscular Atrophy Biomarker Measurements from Blood Samples in a Clinical Trial of Valproic Acid in Ambulatory Adults.

Authors: Renusch SR Harshman S Pi H et al.

Source: Journal of neuromuscular diseases [J Neuromuscul Dis] 2015 Jun 04; Vol. 2 (2), pp. 119-130.

Publication Type: Journal Article

Journal Info: Publisher: SAGE Publications Country of Publication: United States NLM ID: 101649948 Publication Model: Print Cited Medium: Print ISSN: 2214-3599 (Print) Linking ISSN: 22143599 NLM ISO Abbreviation: J Neuromuscul Dis Subsets: PubMed not MEDLINE

A novel mutation in KIAA0196: identification of a gene involved in Ritscher-Schinzel/3C syndrome in a First Nations cohort.

Authors: Elliott AM Simard LR Coghlan G et al.

Source: Journal of medical genetics [J Med Genet] 2013 Dec; Vol. 50 (12), pp. 819-22. Date of Electronic Publication: 2013 Sep 24.

Publication Type: Journal Article; Research Support, Non-U.S. Gov't

Journal Info: Publisher: British Medical Association Country of Publication: England NLM ID: 2985087R Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1468-6244 (Electronic) Linking ISSN: 00222593 NLM ISO Abbreviation: J Med Genet Subsets: MEDLINE

Adrenocortical functioning in boys with attention-deficit/hyperactivity disorder: examining subtypes of ADHD and associated comorbid conditions.

Authors: Hastings PD Fortier I Utendale WT et al.

Source: Journal of abnormal child psychology [J Abnorm Child Psychol] 2009 May; Vol. 37 (4), pp. 565-78.

Publication Type: Journal Article; Research Support, Non-U.S. Gov't

Journal Info: Publisher: Springer Country of Publication: United States NLM ID: 0364547 Publication Model: Print Cited Medium: Internet ISSN: 1573-2835 (Electronic) Linking ISSN: 00910627 NLM ISO Abbreviation: J Abnorm Child Psychol Subsets: MEDLINE

Preclinical validation of a multiplex real-time assay to quantify SMN mRNA in patients with SMA.

Authors: Simard LR Bélanger MC Morissette S et al.

Source: Neurology [Neurology] 2007 Feb 06; Vol. 68 (6), pp. 451-6.

Publication Type: Evaluation Study; Journal Article; Research Support, Non-U.S. Gov't; Validation Study

Journal Info: Publisher: Lippincott Williams & Wilkins Country of Publication: United States NLM ID: 0401060 Publication Model: Print Cited Medium: Internet ISSN: 1526-632X (Electronic) Linking ISSN: 00283878 NLM ISO Abbreviation: Neurology Subsets: MEDLINE