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170 research outcomes, page 1 of 17
  • publication . Article . Other literature type . 2020
    Open Access
    Authors:
    Ilyas, Muhammad; Mir, Asif; Efthymiou, Stephanie; Houlden, Henry;
    Publisher: F1000 Research Ltd
    Project: RCUK | Leveraging the power of g... (MR/S01165X/1), RCUK | MRC Centre for Neuromuscu... (G0601943), RCUK | MRC Strategic Award to es... (MR/S005021/1)

    <ns4:p>Intellectual disability (ID) is a neurodevelopmental condition affecting 1–3% of the world’s population. Genetic factors play a key role causing the congenital limitations in intellectual functioning and adaptive behavior. The heterogeneity of ID makes it more ch...

  • publication . Article . Other literature type . 2015
    Open Access
    Authors:
    Whittaker, Roger G; Devine, Helen E; Gorman, Grainne S; Schaefer, Andrew M; Horvath, Rita; Ng, Yi; Nesbitt, Victoria; Lax, Nichola Z; McFarland, Robert; Cunningham, Mark O; ...
    Publisher: Wiley
    Project: RCUK | MRC Centre for Neuromuscu... (G0601943), WT , RCUK | The MRC Centre for Transl... (G0800674), WT | Mitochondrial DNA - expre... (096919), RCUK | Multi-electrode electromy... (EP/K028421/1)

    Objective The aim of this work was to determine the prevalence and progression of epilepsy in adult patients with mitochondrial disease. Methods We prospectively recruited a cohort of 182 consecutive adult patients attending a specialized mitochondrial disease clinic in...

  • publication . Article . 2014
    Open Access
    Authors:
    Grainne Gorman; Charlotte Alston; Doug Turnbull;
    Publisher: Elsevier BV
    Project: RCUK | The MRC Centre for Transl... (G0800674), WT | Mitochondrial DNA - expre... (096919), WT | Understanding the behavio... (074454), RCUK | MRC Centre for Neuromuscu... (G0601943)

    The m.8344A > G mutation in the mt-tRNALys gene, first described in myoclonic epilepsy and ragged red fibers (MERRF), accounts for approximately 80% of mutations in individuals with MERRF syndrome. Although originally described in families with a classical syndrome of m...

  • publication . Other literature type . Article . 2015
    Open Access
    Authors:
    Anne M Connolly; Frank Baas; Majid Hafezparast; J Paul Taylor;
    Publisher: Ovid Technologies (Wolters Kluwer Health)
    Project: NIH | training (1U54NS065712-01), RCUK | MRC Centre for Neuromuscu... (G0601943), NIH | NEXT-GENERATION SEQUENCIN... (5K08NS075094-05), WT | 10,000 UK genome sequence... (091310)

    OBJECTIVE\ud \ud To expand the clinical phenotype of autosomal dominant congenital spinal muscular atrophy with lower extremity predominance (SMA-LED) due to mutations in the dynein, cytoplasmic 1, heavy chain 1 (DYNC1H1) gene.\ud \ud METHODS\ud \ud Patients with a phen...

  • publication . Preprint . Other literature type . Article . 2019
    Open Access
    Authors:
    Makenzie Saoura; Christopher A. Powell; Robert Kopajtich; Ahmad Alahmad; Haya H. AL-Balool; Buthaina Albash; Majid Alfadhel; Charlotte L. Alston; Enrico Bertini; Penelope Bonnen; ...
    Publisher: Cold Spring Harbor Laboratory
    Project: WT , EC | SOUND (633974), EC | REVERSIBLECOX (309548), WT | Strengthening the neuromu... (201064), WT | Wellcome Centre for Mitoc... (203105), RCUK | MRC Centre for Neuromuscu... (G0601943), WT | Exploring novel molecular... (109915), RCUK | Exosomal protein deficien... (MR/N025431/1), NIH | tRNase Z reaction is cent... (3R15GM101620-03S1), RCUK | Mitochondrial Genetics (MC_UU_00015/4),...

    <jats:title>Abstract</jats:title><jats:p>Dysfunction of mitochondrial gene expression, caused by mutations in either the mitochondrial or nuclear genomes, is associated with a diverse group of human disorders characterized by impaired mitochondrial respiration. Within t...

  • publication . Article . 2013
    Open Access English
    Authors:
    Dr Djordje Jakovljevic; Grainne Gorman; Lynn Rochester; Doug Turnbull; Andrew Schaefer; Michael Trenell; Robert McFarland;
    Publisher: Springer Nature
    Project: WT | Mitochondrial DNA - expre... (096919), RCUK | MRC Centre for Neuromuscu... (G0601943), WT | Understanding the behavio... (074454), RCUK | The MRC Centre for Transl... (G0800674)

    Mitochondrial disease is complex and variable, making diagnosis and management challenging. The situation is complicated by lack of sensitive outcomes of disease severity, progression, contributing pathology and clinical efficacy. Gait is emerging as a sensitive marker ...

  • publication . Article . Other literature type . 2014
    Open Access English
    Authors:
    Alejandro Horga; Zane Jaunmuktane; Andrzej Kochański; Rafał Płoski; Rita Horvath; Elodie Chabrol; Conceicao Bettencourt; Paola Saveri; Paweł Teterycz;
    Publisher: The Authors. Published by Elsevier Inc.
    Project: RCUK | MRC Centre for Neuromuscu... (G0601943), NIH | training (1U54NS065712-01), WT , NIH | Genomic Studies in Charco... (5R01NS075764-02), EC | REVERSIBLECOX (309548)

    Using a combination of exome sequencing and linkage analysis, we investigated an English family with two affected siblings in their 40s with recessive Charcot-Marie Tooth disease type 2 (CMT2). Compound heterozygous mutations in the immunoglobulin-helicase-μ-binding pro...

  • publication . Article . 2017
    Open Access
    Authors:
    John D. Widdrington; Aurora Gomez-Duran; Jannetta S. Steyn; Angela Pyle; Marie-Helene Ruchaud-Sparagano; Jonathan Scott; Simon V. Baudouin; Anthony J. Rostron; John Simpson; Patrick F. Chinnery;
    Publisher: Elsevier BV
    Project: WT | Genetic factors modulatin... (101876), RCUK | MRC Centre for Neuromuscu... (G0601943)
  • publication . Article . 2016
    Open Access English
    Authors:
    Peter Clayton; Holger Prokisch; david thorburn; Philip Murray; Julian Hamilton-Shield; Charlotte Alston; Robert McFarland;
    Publisher: BMJ Publishing Group
    Project: WT , RCUK | MRC Centre for Neuromuscu... (G0601943)

    <p>BACKGROUND: Isolated Complex I deficiency is the most common paediatric mitochondrial disease presentation, associated with poor prognosis and high mortality. Complex I comprises 44 structural subunits with at least 10 ancillary proteins; mutations in 29 of these hav...

  • publication . Article . Other literature type . 2019
    Open Access English
    Authors:
    Stefan Barakat; Eleonora Aronica; Wilfred van IJcken; Mehrnaz Ghazvini; soheil yousefi;
    Project: WT | Development of an Institu... (093205), NIH | Yale Center for Mendelian... (5UM1HG006504-07), RCUK | MRC Centre for Neuromuscu... (G0601943), RCUK | MRC Strategic Award to es... (MR/S005021/1), RCUK | Leveraging the power of g... (MR/S01165X/1)

    Developmental and/or epileptic encephalopathies (DEEs) are a group of devastating genetic disorders, resulting in early-onset, therapy-resistant seizures and developmental delay. Here we report on 22 individuals from 15 families presenting with a severe form of intracta...

170 research outcomes, page 1 of 17
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