The neuromuscular junction in health and disease: molecular mechanisms governing synaptic formation and homeostasis PM Rodríguez Cruz, J Cossins, D Beeson, A Vincent Frontiers in molecular neuroscience 13, 610964, 2020 | 180 | 2020 |
Clinical features and diagnostic usefulness of antibodies to clustered acetylcholine receptors in the diagnosis of seronegative myasthenia gravis PMR Cruz, M Al-Hajjar, S Huda, L Jacobson, M Woodhall, S Jayawant, ... JAMA neurology 72 (6), 642-649, 2015 | 156 | 2015 |
Mutations in GMPPB cause congenital myasthenic syndrome and bridge myasthenic disorders with dystroglycanopathies K Belaya, PM Rodríguez Cruz, WW Liu, S Maxwell, S McGowan, ... Brain 138 (9), 2493-2504, 2015 | 148 | 2015 |
The neuromuscular junction and wide heterogeneity of congenital myasthenic syndromes PM Rodríguez Cruz, J Palace, D Beeson International journal of molecular sciences 19 (6), 1677, 2018 | 109 | 2018 |
Clinical features of the myasthenic syndrome arising from mutations in GMPPB PMR Cruz, K Belaya, K Basiri, M Sedghi, ME Farrugia, JL Holton, WW Liu, ... Journal of Neurology, Neurosurgery & Psychiatry 87 (8), 802-809, 2016 | 79 | 2016 |
Congenital myasthenic syndrome type 19 is caused by mutations in COL13A1, encoding the atypical non-fibrillar collagen type XIII α1 chain CV Logan, J Cossins, PMR Cruz, DA Parry, S Maxwell, ... The American Journal of Human Genetics 97 (6), 878-885, 2015 | 79 | 2015 |
Congenital myasthenic syndromes and the neuromuscular junction PMR Cruz, J Palace, D Beeson Current opinion in neurology 27 (5), 566-575, 2014 | 76 | 2014 |
An analysis of the sensitivity and specificity of MHC-I and MHC-II immunohistochemical staining in muscle biopsies for the diagnosis of inflammatory myopathies PMR Cruz, YB Luo, J Miller, RC Junckerstorff, FL Mastaglia, V Fabian Neuromuscular Disorders 24 (12), 1025-1035, 2014 | 74 | 2014 |
Serological and experimental studies in different forms of myasthenia gravis A Vincent, S Huda, M Cao, H Cetin, I Koneczny, P Rodriguez‐Cruz, ... Annals of the New York Academy of Sciences 1413 (1), 143-153, 2018 | 72 | 2018 |
Molecular characterization of congenital myasthenic syndromes in Spain D Natera-de Benito, A Töpf, JJ Vilchez, L González-Quereda, ... Neuromuscular Disorders 27 (12), 1087-1098, 2017 | 68 | 2017 |
Salbutamol and ephedrine in the treatment of severe AChR deficiency syndromes PM Rodríguez Cruz, J Palace, H Ramjattan, S Jayawant, SA Robb, ... Neurology 85 (12), 1043-1047, 2015 | 64 | 2015 |
Use of cell-based assays in myasthenia gravis and other antibody-mediated diseases PMR Cruz, S Huda, P López-Ruiz, A Vincent Experimental neurology 270, 66-71, 2015 | 64 | 2015 |
Inherited disorders of the neuromuscular junction: an update PM Rodríguez Cruz, J Palace, D Beeson Journal of neurology 261, 2234-2243, 2014 | 58 | 2014 |
Congenital myopathies with secondary neuromuscular transmission defects; a case report and review of the literature PMR Cruz, C Sewry, D Beeson, S Jayawant, W Squier, R McWilliam, ... Neuromuscular Disorders 24 (12), 1103-1110, 2014 | 56 | 2014 |
The clinical spectrum of the congenital myasthenic syndrome resulting from COL13A1 mutations PM Rodríguez Cruz, J Cossins, E de Paula Estephan, F Munell, K Selby, ... Brain 142 (6), 1547-1560, 2019 | 45 | 2019 |
β2-Adrenergic receptor agonists ameliorate the adverse effect of long-term pyridostigmine on neuromuscular junction structure AE Vanhaesebrouck, R Webster, S Maxwell, PM Rodriguez Cruz, ... Brain 142 (12), 3713-3727, 2019 | 41 | 2019 |
Benefits of eculizumab in AQP4+ neuromyelitis optica spectrum disorder: subgroup analyses of the randomized controlled phase 3 PREVENT trial J Palace, DM Wingerchuk, K Fujihara, A Berthele, C Oreja-Guevara, ... Multiple sclerosis and related disorders 47, 102641, 2021 | 37 | 2021 |
Sleep disordered breathing and subclinical impairment of respiratory function are common in sporadic inclusion body myositis PMR Cruz, M Needham, P Hollingsworth, FL Mastaglia, DR Hillman Neuromuscular Disorders 24 (12), 1036-1041, 2014 | 36 | 2014 |
Long‐term thalamic deep brain stimulation for essential tremor: clinical outcome and stimulation parameters PM Rodríguez Cruz, A Vargas, C Fernández‐Carballal, J Garbizu, ... Movement Disorders Clinical Practice 3 (6), 567-572, 2016 | 29 | 2016 |
Paediatric myasthenia gravis: prognostic factors for drug free remission D Vecchio, S Ramdas, P Munot, M Pitt, D Beeson, R Knight, PR Cruz, ... Neuromuscular Disorders 30 (2), 120-127, 2020 | 28 | 2020 |