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BMC PEDIATRICS, ISSN 1471-2431, 07/2019, Volume 19, Issue 1, pp. 238 - 238
Background: Newborn screening (NBS) occupies a unique space at the intersection of translational science and public health. As the only truly population-based... 
RECRUITMENT | Rare disorders | DISORDERS | PREVALENCE | CHALLENGES | ATTITUDES | CHILDREN | Translational science | CLINICAL-RESEARCH | SPINAL MUSCULAR-ATROPHY | Newborn screening | PEDIATRICS | OUTCOMES | PARTICIPANTS | Rare diseases | Care and treatment | Analysis | Clinical trials | Infants | Diagnosis | Medical screening | Pediatric research | Index Medicus
Journal Article
Scientific Reports, ISSN 2045-2322, 12/2019, Volume 9, Issue 1, pp. 7799 - 9
Spinal muscular atrophy (SMA) is caused by loss-of-function mutations in the survival of motoneuron gene 1 (SMN1). SMA is characterized by motoneuron death,... 
SURVIVAL | GENE | SMN | PRODUCT | MULTIDISCIPLINARY SCIENCES | MOTOR FUNCTION | MICE | SINGLE NUCLEOTIDE | DEGENERATION | Atrophy | Animal models | Phenotypes | Life span | Splicing | Copy number | SMN protein | Reinnervation | Skeletal muscle | Spinal muscular atrophy | Denervation
Journal Article
SCIENTIFIC REPORTS, ISSN 2045-2322, 03/2019, Volume 9, Issue 1, pp. 3701 - 14
Spinal muscular atrophy (SMA) is an autosomal recessive neuromuscular disorder characterized by the degeneration of spinal motor neurons and muscle atrophy.... 
SURVIVAL | DEFECTS | MULTIDISCIPLINARY SCIENCES | MOUSE MODEL | DISEASE | PHENOTYPE | MICE | SMN GENE | ASTROGENESIS | SMN-DELTA-7 | ONSET | Atrophy | Motor neurons | Spinal cord | Cell survival | Astrocytes | SMN protein | Degeneration | Spinal muscular atrophy | Hereditary diseases
Journal Article
NATURE REVIEWS DISEASE PRIMERS, ISSN 2056-676X, 04/2019, Volume 5, Issue 1, pp. 24 - 24
Journal Article
SCIENTIFIC REPORTS, ISSN 2045-2322, 07/2019, Volume 9, Issue 1, pp. 1 - 12
Journal Article
Journal of Neurosciences in Rural Practice, ISSN 0976-3147, 04/2018, Volume 9, Issue 2, pp. 245 - 251
ABSTRACT This review aims at summarising and discussing the current status concerning the clinical presentation, pathogenesis, diagnosis, and treatment of... 
Review Article | transverse syndrome | Mitochondrial | mtDNA | myelon | spinal cord | respiratory chain | myelopathy | Spinal cord | Care and treatment | Mitochondrial diseases | Research | Diagnosis | Health aspects | Nuclear magnetic resonance--NMR | Scoliosis | Ataxia | Mitochondrial DNA | Mutation | Patients | Review
Journal Article
Annals of Neurology, ISSN 0364-5134, 09/2019, Volume 86, Issue 3, pp. 443 - 451
Objective The aim of the study was to report 12‐month changes after treatment with nusinersen in a cohort of 85 type I spinal muscular atrophy patients of ages... 
Atrophy | Copy number | Decision making | SMN protein | Patients | Neuromuscular system | Subgroups | Spinal muscular atrophy
Journal Article
Neuromolecular Medicine, ISSN 1535-1084, 08/2019, pp. 1 - 5
Mutations in TRPV4 are linked to a group of clinically distinct, but also overlapping axonal neuropathies, including Charcot–Marie–Tooth disease type 2C... 
Dysplasia | Coding | Exons | Charcot-Marie-Tooth disease | Teeth | Bone dysplasia | Skeleton | Mutation | Neuropathy | Paralysis | Spinal muscular atrophy | Hearing loss | Index Medicus
Journal Article
EXPERT REVIEW OF CLINICAL PHARMACOLOGY, ISSN 1751-2433, 08/2019, Volume 12, Issue 8, pp. 757 - 770
Journal Article
Orthopaedics and Trauma, ISSN 1877-1327, 08/2019, Volume 33, Issue 4, pp. 239 - 248
Patients with neuromuscular conditions are frequently seen in final professional clinical examinations as they have good clinical signs, which often point... 
arthrogryposis | Friedreich's ataxia | muscular dystrophy | poliomyelitis | neuromuscular conditions | Charcot-Marie-Tooth | spinal muscular atrophy | hereditary sensory motor neuropathy | Surgeons
Journal Article
MONATSSCHRIFT KINDERHEILKUNDE, ISSN 0026-9298, 08/2019, Volume 167, Issue 8, pp. 696 - 703
This article deals with the pediatric orthopedic features of neuromuscular scoliosis. Duchenne muscular dystrophy, spinal muscular atrophy typeII, cerebral... 
Cerebral palsy | MANAGEMENT | ATROPHY | NATURAL-HISTORY | SURGICAL-TREATMENT | Spinal muscular atrophies of childhood | Duchenne muscular dystrophy | Orthopedics | SPINAL DEFORMITIES | PEDIATRICS | DUCHENNE MUSCULAR-DYSTROPHY