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Thorax, ISSN 0040-6376, 08/2018, Volume 73, Issue 8, pp. 788 - 790
There are several possible causes; the likeliest diagnosis is spinal muscular atrophy with respiratory distress type 1 (SMARD1), and the differential diagnosis... 
paediatric lung disease | rare lung disease | respiratory muscles | assisted ventilation | SPINAL MUSCULAR-ATROPHY | RESPIRATORY SYSTEM | Ventilators | Neuromuscular diseases | Congenital diseases | Disease | Quality of life | Children & youth | Abdomen | Parents & parenting | Ostomy | Medical prognosis | Electromyography | Paralysis | Mutation | Chromosomes | Age | Index Medicus
Journal Article
Journal Article
Brain, ISSN 0006-8950, 10/2007, Volume 130, Issue 10, pp. 2725 - 2735
Journal Article
Biophysical Journal, ISSN 0006-3495, 02/2017, Volume 112, Issue 3, pp. 161a - 161a
Journal Article
Journal Article
The American Journal of Human Genetics, ISSN 0002-9297, 07/2013, Volume 93, Issue 1, pp. 6 - 18
Journal Article
Journal of Neurology, Neurosurgery and Psychiatry, ISSN 0022-3050, 02/2016, Volume 87, Issue 2, pp. 149 - 155
Journal Article
Journal of Neurology, Neurosurgery & Psychiatry, ISSN 0022-3050, 11/2018, Volume 89, Issue 11, pp. 1230 - 1230
Structurally, it comprises three globular domains, an N-terminal and a C-terminal BRCT domain which interact with DNA polymerase and DNA ligase 3α,... 
neuropathy | cerebellar ataxia | cerebellar degeneration | genetics | neurogenetics | SURGERY | REPAIR | PSYCHIATRY | CLINICAL NEUROLOGY | Spinal cord | Gait | Peripheral neuropathy | Patients | DNA repair | Atrophy | Genotype & phenotype | Brain research | Infertility | Ataxia | Mutation | Chromosomes | Deoxyribonucleic acid--DNA | 1506 | PostScript
Journal Article
Developmental Medicine & Child Neurology, ISSN 0012-1622, 08/2019, Volume 61, Issue 8, pp. 964 - 971
Young children often present with non‐muscular pathology in facioscapulohumeral dystrophy type 1 (FSHD1), especially hearing loss. Age at onset in paediatric... 
HEARING-LOSS | SMCHD1 | PAIN | MENTAL-RETARDATION | DISEASE | FSHD | PHENOTYPE | PEDIATRICS | EPILEPSY | INHERITANCE | CLINICAL NEUROLOGY | INSIGHTS
Journal Article
Human Mutation, ISSN 1059-7794, 06/2012, Volume 33, Issue 6, pp. 981 - 988
Journal Article