| ALS genetics, mechanisms, and therapeutics: where are we now? R Mejzini, LL Flynn, IL Pitout, S Fletcher, SD Wilton, PA Akkari Frontiers in neuroscience 13, 1310, 2019 | 710 | 2019 |
| A mutation in the α tropomyosin gene TPM3 associated with autosomal dominant nemaline myopathy NG Laing, SD Wilton, PA Akkari, S Dorosz, K Boundy, C Kneebone, ... Nature genetics 9 (1), 75-79, 1995 | 426 | 1995 |
| Mutations in the nebulin gene associated with autosomal recessive nemaline myopathy K Pelin, P Hilpelä, K Donner, C Sewry, PA Akkari, SD Wilton, ... Proceedings of the National Academy of Sciences 96 (5), 2305-2310, 1999 | 351 | 1999 |
| Association of an unusual form of a Pax7-like gene with increased efficiency of skeletal muscle regeneration PH Kay, CA Mitchell, A Akkari, JM Papadimitriou Gene 163 (2), 171-177, 1995 | 227 | 1995 |
| Altered gut microbiome in Parkinson’s disease and the influence of lipopolysaccharide in a human α-synuclein over-expressing mouse model AM Gorecki, L Preskey, MC Bakeberg, JE Kenna, C Gildenhuys, ... Frontiers in neuroscience 13, 839, 2019 | 151 | 2019 |
| Assignment of a gene (NEM1) for autosomal dominant nemaline myopathy to chromosome 1 NG Laing, BT Majda, PA Akkari, MG Layton, JC Mulley, H Phillips, ... American journal of human genetics 50 (3), 576, 1992 | 114 | 1992 |
| Screening for Lrrk2 G2019S and clinical comparison of Tunisian and North American Caucasian Parkinson's disease families L Ishihara, RA Gibson, L Warren, R Amouri, K Lyons, C Wielinski, ... Movement Disorders 22 (1), 55-61, 2007 | 93 | 2007 |
| A splice-site mutation causing ovine McArdle's disease P Tan, JG Allen, SD Wilton, PA Akkari, CR Huxtable, NG Laing Neuromuscular Disorders 7 (5), 336-342, 1997 | 82 | 1997 |
| An αtropomyosin mutation alters dimer preference in nemaline myopathy MA Corbett, P Anthony Akkari, A Domazetovska, ST Cooper, KN North, ... Annals of Neurology: Official Journal of the American Neurological …, 2005 | 65 | 2005 |
| Structural variants may be a source of missing heritability in sALS F Theunissen, LL Flynn, RS Anderton, F Mastaglia, J Pytte, L Jiang, ... Frontiers in neuroscience 14, 47, 2020 | 51 | 2020 |
| Novel STMN2 Variant Linked to Amyotrophic Lateral Sclerosis Risk and Clinical Phenotype F Theunissen, RS Anderton, FL Mastaglia, LL Flynn, SJ Winter, I James, ... Frontiers in Aging Neuroscience 13, 658226, 2021 | 47 | 2021 |
| Early onset chromosome 14-linked distal myopathy (Laing) FL Mastaglia, BA Phillips, LA Cala, C Meredith, S Egli, PA Akkari, ... Neuromuscular Disorders 12 (4), 350-357, 2002 | 47 | 2002 |
| African-American TOMM40'523-APOE haplotypes are admixture of West African and Caucasian alleles AD Roses, MW Lutz, AM Saunders, D Goldgaber, R Saul, SS Sundseth, ... Alzheimer's & Dementia 10 (6), 592-601. e2, 2014 | 36 | 2014 |
| Assignment of the human α-tropomyosin gene TPM3 to 1q22→ q23 by fluorescence in situ hybridisation SD Wilton, H Eyre, PA Akkari, HC Watkins, C MacRae, NG Laing, ... Cytogenetic and Genome Research 68 (1-2), 122-124, 1995 | 36 | 1995 |
| Expression and biological activity of Baculovirus generated wild-type human slow α tropomyosin and the Met9Arg mutant responsible for a dominant form of nemaline myopathy PA Akkari, Y Song, S Hitchcock-DeGregori, L Blechynden, N Laing Biochemical and biophysical research communications 296 (2), 300-304, 2002 | 35 | 2002 |
| New perspectives on cytoskeletal dysregulation and mitochondrial mislocalization in amyotrophic lateral sclerosis F Theunissen, PK West, S Brennan, B Petrović, K Hooshmand, PA Akkari, ... Translational neurodegeneration 10 (1), 46, 2021 | 30 | 2021 |
| Autosomal dominant distal myopathy not linked to the known distal myopathy loci KJ Felice, C Meredith, N Binz, A Butler, R Jacob, P Akkari, J Hallmayer, ... Neuromuscular Disorders 9 (2), 59-65, 1999 | 29 | 1999 |
| Production of human skeletal α-actin proteins by the baculovirus expression system PA Akkari, KJ Nowak, K Beckman, KR Walker, F Schachat, NG Laing Biochemical and biophysical research communications 307 (1), 74-79, 2003 | 28 | 2003 |
| Assignment of the human skeletal muscle α-tropomyosin gene (TPM1) to band 15q22 by fluorescence in situ hybridization H Eyre, PA Akkari, SD Wilton, DC Callen, E Baker, NG Laing Cytogenetic and Genome Research 69 (1-2), 15-17, 1995 | 28 | 1995 |
| Structural variants can be more informative for disease diagnostics, prognostics and translation than current SNP mapping and exon sequencing AD Roses, PA Akkari, O Chiba-Falek, MW Lutz, WK Gottschalk, ... Expert Opinion on Drug Metabolism & Toxicology 12 (2), 135-147, 2016 | 26 | 2016 |
