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Medical genetics / Spinal muscular atrophies / Distal hereditary motor neuropathies / SMN1 / Anterior horn of spinal cord / Spinal cord / Muscle / Charcot–Marie–Tooth disease / Amyotrophic lateral sclerosis / Motor neurone disease / Anatomy / Genetic genealogy


doi:brain/aws108 Brain 2012: 135; 1714–1723 | 1714
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Document Date: 2012-07-16 02:22:28

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File Size: 1,11 MB

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City

Nurnberg / Concord / Florence / Thiele / Westmead / Sydney / Parkville / London / /

Company

W.B. Saunders Ltd. / Oxford University Press / Elsevier Limited / Affymetrix / Emery AE / /

Country

Australia / /

Currency

pence / /

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Facility

Murdoch Childrens Research Institute / University of Sydney / Children’s Hospital / Mind Research Institute / The University of Sydney / Concord Repatriation General Hospital / Royal Children’s Hospital / University of Melbourne / Eliza Hall Institute of Medical Research / The University of Melbourne / /

IndustryTerm

magnetic resonance imaging / software version / http /

MedicalCondition

greater disease / early-onset contractures / fixed flexion deformities / foot contractures / endomysial and perifascicular fibrosis / mild expressive language delay / amyotrophic lateral sclerosis / chronic denervating conditions / left foot deformity / excessive drooling / Early postnatalonset contractures / ophthalmoplegia / congenital contractures / mid-thoracic scoliosis / pericellular and interfascicular fibrosis / dominant congenital spinal muscular atrophy / deformity / spinal muscular atrophies / typical dominant congenital spinal muscular atrophy / laryngeal palsy / scoliosis / persistent neuronal dysfunction / sleep-disordered breathing / cancer / pes cavus / large dominant congenital spinal muscular atrophy / dominant distal hereditary motor neuropathies / published dominant SMA/distal hereditary motor neuropathy genes / rapid fatigue / associated arthrogryposis / Neurogenic disorders / dominant distal hereditary motor neuropathy / chronic proximal spinal muscular atrophies maps / pes planus / Dominant congenital benign spinal muscular atrophy / progressive asymmetrical pectus carinatum deformity / scapuloperoneal spinal muscular atrophy / disorders / tongue fasciculations / chronic denervation / dominant axonal Charcot-Marie-Tooth disease / neuromuscular disorders / fully penetrant dominant disease / bilateral fixed flexion deformities / congenital lower limb contractures / neuromuscular diseases / muscle weakness / peripheral neuropathy / axial muscle weakness / flexion contracture / unrelated illness / developmental deficiency / meningococcal disease / septicaemia / late-onset spinal muscular atrophy / motor neuron disorder / equinovarus ankle deformities / knee contracture / late adult spinal muscular atrophy / meningococcal septicaemia / Tooth/hereditary / clearly allelic disorders / spinal muscular atrophy / disease / bilateral calcaneovalgus deformities / Asymmetric knee contractures / bilateral tendo-Achilles contractures / allelic disorders / Congenital autosomal dominant distal spinal muscular atrophy / Tooth disease / Bilateral hip contractures / respiratory distress / /

MedicalTreatment

surgery / hip surgery / foot surgery / /

Organization

Royal Children’s Hospital / Brain and Mind Research Institute / Human Ethics Committee / University of Sydney / Sydney / Department of Forensic Medicine / Institute for Neuroscience and Muscle Research / Department of Mathematics and Statistics / Mind Research Institute / Department of Molecular Medicine / Eliza Hall Institute of Medical Research / Oxford University / University of Melbourne / Faculty of Medicine / Department of Mathematics / Department of Neurology / Children’s Hospital / Concord Repatriation General Hospital / Department of Paediatrics / Murdoch Childrens Research Institute / /

Person

Van Deutekom / Arch Neurol / Emily C. Oates / Kathryn N. North / /

Position

Author / head of biceps / Professor / long head / short head / Governor / /

ProvinceOrState

Victoria / Manitoba / New South Wales / /

Region

South Wales / New England / /

Technology

Neuroscience / Green algorithm / genotyping / magnetic resonance imaging / recombination / Bioinformatics / Ultrasound / MRI / SNP / /

URL

http /

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