Détail de l'auteur
Auteur Farrar MA |
Documents disponibles écrits par cet auteur (17)



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Thrombotic Microangiopathy Following Onasemnogene Abeparvovec for Spinal Muscular Atrophy: A Case Series
Chand DH, Zaidman C, Arya K, et al.
The Journal of pediatrics, 2020
Revue : The Journal of pediatrics Titre : Thrombotic Microangiopathy Following Onasemnogene Abeparvovec for Spinal Muscular Atrophy: A Case Series Type de document : Article Auteurs : Chand DH ; Zaidman C ; Arya K ; Millner R ; Farrar MA ; Mackie FE ; Goedeker NL ; Dharnidharka VR ; Dandamudi R ; Reyna SP Editeur : United States Année de publication : 28/11/2020 Langues : Anglais (eng) Pubmed / DOI : Pubmed : 33259859 / DOI : 10.1016/j.jpeds.2020.11.054
N° Profil MNM : 2020121 En ligne : http://www.ncbi.nlm.nih.gov/pubmed/33259859 Avis des lecteurs Aucun avis, ajoutez le vôtre !
(mauvais) 15 (excellent)
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Motor unit changes in children with symptomatic spinal muscular atrophy treated with nusinersen
Kariyawasam D, D'Silva A, Howells J, et al.
Journal of neurology, neurosurgery, and psychiatry, 2020
Revue : Journal of neurology, neurosurgery, and psychiatry Titre : Motor unit changes in children with symptomatic spinal muscular atrophy treated with nusinersen Type de document : Article Auteurs : Kariyawasam D ; D'Silva A ; Howells J ; Herbert K ; Geelan-Small P ; Lin CS ; Farrar MA Editeur : England Année de publication : 26/10/2020 Langues : Anglais (eng) Pubmed / DOI : Pubmed : 33106369 / DOI : 10.1136/jnnp-2020-324254
N° Profil MNM : 2020111 En ligne : http://www.ncbi.nlm.nih.gov/pubmed/33106369 Avis des lecteurs Aucun avis, ajoutez le vôtre !
(mauvais) 15 (excellent)
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Prenusinersen economic and health-related quality of life burden of spinal muscular atrophy
Chambers GM, Settumba SN, Carey KA, et al.
Neurology, 2020
Revue : Neurology Titre : Prenusinersen economic and health-related quality of life burden of spinal muscular atrophy Type de document : Article Auteurs : Chambers GM ; Settumba SN ; Carey KA ; Cairns A ; Menezes MP ; Ryan M ; Farrar MA Editeur : United States Année de publication : 06/2020 Langues : Anglais (eng) Pubmed / DOI : Pubmed : 32513788 / DOI : 10.1212/WNL.0000000000009715
N° Profil MNM : 2020061 En ligne : http://www.ncbi.nlm.nih.gov/pubmed/32513788 Avis des lecteurs Aucun avis, ajoutez le vôtre !
(mauvais) 15 (excellent)
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Health, wellbeing and lived experiences of adults with SMA: a scoping systematic review
Wan HWY, Carey KA, D'Silva A, et al.
Orphanet journal of rare diseases, 2020, 15, 1, p 70
Revue : Orphanet journal of rare diseases, 15, 1 Titre : Health, wellbeing and lived experiences of adults with SMA: a scoping systematic review Type de document : Article Auteurs : Wan HWY, Auteur ; Carey KA ; D'Silva A ; Vucic S ; Kiernan MC ; Kasparian NA ; Farrar MA Editeur : England Année de publication : 03/2020 Pages : p 70 Langues : Anglais (eng) Pubmed / DOI : Pubmed : 32164772 / DOI : 10.1186/s13023-020-1339-3
N° Profil MNM : 2020031 En ligne : http://www.ncbi.nlm.nih.gov/pubmed/32164772 Avis des lecteurs Aucun avis, ajoutez le vôtre !
(mauvais) 15 (excellent)
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Nutritional practices in pediatric patients with neuromuscular disorders
Chou E, Lindeback R, Sampaio H, et al.
Nutrition reviews, 2020
Revue : Nutrition reviews Titre : Nutritional practices in pediatric patients with neuromuscular disorders Type de document : Article Auteurs : Chou E ; Lindeback R ; Sampaio H ; Farrar MA Editeur : United States Année de publication : 01/2020 Langues : Anglais (eng) Mots-clés : alimentation-nutrition ; article de synthèse ; maladie neuromusculaire ; pédiatrie Pubmed / DOI : Pubmed : 31968103 / DOI : 10.1093/nutrit/nuz109
N° Profil MNM : 2020013 En ligne : http://www.ncbi.nlm.nih.gov/pubmed/31968103 Avis des lecteurs Aucun avis, ajoutez le vôtre !
(mauvais) 15 (excellent)
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The implementation of newborn screening for spinal muscular atrophy: the Australian experience
Kariyawasam DST, Russell JS, Wiley V, et al.
Genetics in medicine : official journal of the American College of Medical Genetics, 2019
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An Integrated Safety Analysis of Infants and Children with Symptomatic Spinal Muscular Atrophy (SMA) Treated with Nusinersen in Seven Clinical Trials
Darras BT, Farrar MA, Mercuri E, et al.
CNS Drugs, 2019
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"Getting ready for the adult world": how adults with spinal muscular atrophy perceive and experience healthcare, transition and well-being
Wan HWY, Carey KA, D'Silva A, et al.
Orphanet journal of rare diseases, 2019, 14, 1
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Myotonic dystrophy type 1: clinical manifestations in children and adolescents
Ho G, Ho G, Carey KA, et al.
Archives of disease in childhood, 2018
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Congenital titinopathy: Comprehensive characterisation and pathogenic insights
Oates EC, Jones KJ, Donkervoort S, et al.
Annals of neurology, 2018
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Financial, opportunity and psychosocial costs of spinal muscular atrophy: an exploratory qualitative analysis of Australian carer perspectives
Farrar MA, Carey KA, Paguinto SG, et al.
BMJ Open, 2018, 8, 5
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Quality of life and excessive daytime sleepiness in children and adolescents with myotonic dystrophy type 1
Ho G, Widger J, Cardamone M, et al.
Sleep medicine, 2017, 32, p 92
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Pathophysiology of motor dysfunction in a childhood motor neuron disease caused by mutations in the riboflavin transporter
Menezes MP, Farrar MA, Webster R, et al.
Clinical neurophysiology : official journal of the International Federation of Clinical Neurophysiology, 2016, 127, 1, p 911
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Whole Genome Sequencing Identifies a 78 kb Insertion from Chromosome 8 as the Cause of Charcot-Marie-Tooth Neuropathy CMTX3
Brewer MH, Chaudhry R, Qi J, et al.
PLoS Genetics, 2016, 12, 7
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Identification of KLHL41 mutations implicates BTB-kelch-mediated ubiquitination as an alternate pathway to myofibrillar disruption in nemaline myopathy
Gupta VA, Ravenscroft G, Shaheen R, et al.
American journal of human genetics (The), 2013, 93, 6, p. 1108-1117
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Pathophysiological Insights Derived by Natural History and Motor Function of Spinal Muscular Atrophy
Farrar MA, Vucic S, Johnston HM, et al.
Journal of pediatrics (The), 2013, 162, 1, p. 155-159
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Spinal muscular atrophy : molecular mechanisms
Farrar MA, Johnston HM, Grattan-Smith P, et al.
Current molecular medicine, 2009, 9, 7, p. 851-862
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