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Journal of Child Neurology, ISSN 0883-0738, 08/2007, Volume 22, Issue 8, pp. 1027 - 1049
Spinal muscular atrophy is a neurodegenerative disease that requires multidisciplinary medical care. Recent progress in the understanding of molecular... 
Standard of care | Consensus statement | Spinal muscular atrophy | COMMUNITY-ACQUIRED PNEUMONIA | LEAN BODY-MASS | HIP DISLOCATION | NEUROMUSCULAR DISORDERS | standard of care | RESPIRATORY-DISTRESS | FUNCTIONAL MOTOR SCALE | WERDNIG-HOFFMANN DISEASE | NATURAL-HISTORY | CLINICAL NEUROLOGY | consensus statement | OUTCOME MEASURES | PEDIATRICS | spinal muscular atrophy | NONINVASIVE VENTILATION | Muscular Atrophy, Spinal - diagnosis | Postoperative Complications - etiology | Gastrointestinal Diseases - physiopathology | Humans | Gastrointestinal Diseases - etiology | Postoperative Complications - prevention & control | Respiratory Insufficiency - etiology | Respiratory Paralysis - therapy | Respiratory Paralysis - physiopathology | Deglutition Disorders - therapy | Child Nutrition Disorders - etiology | Respiratory Paralysis - etiology | Child Nutrition Disorders - physiopathology | Gait Disorders, Neurologic - physiopathology | Child Nutrition Disorders - prevention & control | Deglutition Disorders - etiology | Child | Deglutition Disorders - physiopathology | Respiratory Insufficiency - physiopathology | Diagnosis, Differential | Gastrointestinal Diseases - therapy | Respiratory Insufficiency - therapy | Consensus | Gait Disorders, Neurologic - therapy | Muscular Atrophy, Spinal - therapy | Muscular Atrophy, Spinal - complications | Gait Disorders, Neurologic - etiology
Journal Article
Journal of Neuroimmunology, ISSN 0165-5728, 2016
Abstract Cases of acquired rippling muscle disease in association with myasthenia gravis have been reported. We present three patients with iRMD... 
Neurology | Allergy and Immunology
Journal Article
The American Journal of Human Genetics, ISSN 0002-9297, 12/2014, Volume 95, Issue 6, pp. 708 - 720
Journal Article
Journal Article
Orphanet Journal of Rare Diseases, ISSN 1750-1172, 2011, Volume 6, Issue 1, pp. 24 - 24
Journal Article
FRONTIERS IN CELLULAR NEUROSCIENCE, ISSN 1662-5102, 07/2019, Volume 13, p. 356
Frataxin deficiency is the pathogenic cause of Friedreich's Ataxia, an autosomal recessive disease characterized by the increase of oxidative stress and... 
CEREBELLAR | antioxidant | neural stem cells | SULFORAPHANE | ABNORMALITIES | neurodegeneration | FRATAXIN DEFICIENCY LEADS | MITOCHONDRIAL DISEASE | EPI-743 | NEUROSCIENCES | frataxin | KIKO MOUSE MODEL | Nrf2 | neurogenesis | DYSFUNCTION | Friedreich's Ataxia | EXPRESSION | Oxidative stress | Brain research | Research | Neurogenesis | Stem cells
Journal Article
Nature Reviews Neurology, ISSN 1759-4758, 04/2018, Volume 14, Issue 4, pp. 197 - 198
Effective drug development for infantile-onset spinal muscular atrophy (SMA) requires a meaningful understanding of disease progression and reliable... 
CLINICAL NEUROLOGY
Journal Article
Archivos Argentinos de Pediatria, ISSN 0325-0075, 2017, Volume 115, Issue 6, pp. e440 - e444
Journal Article
Journal Article
ARCHIVOS ARGENTINOS DE PEDIATRIA, ISSN 0325-0075, 12/2017, Volume 115, Issue 6, pp. E440 - E444
Cleidocranial dysplasia is an uncommon bone dysplasia with an autosomal dominant inheritance pattern characterized by short stature, large fontanels, midface... 
c.674G > A | p.R225Q | cleidocranial dysplasia | PEDIATRICS | MUTATIONS | LEUKEMIA | RUNX2 | Phenotype | Pedigree | Cleidocranial Dysplasia - genetics | Humans | Adolescent | Cleidocranial Dysplasia - diagnostic imaging | Cleidocranial Dysplasia - diagnosis | Male | Core Binding Factor Alpha 1 Subunit - genetics
Journal Article
American Journal of Human Genetics, ISSN 0002-9297, 10/2016, Volume 99, Issue 4, p. 974
  Tubulinopathies constitute a family of neurodevelopmental/neurodegenerative disorders caused by mutations in several genes encoding tubulin isoforms.... 
Genotype & phenotype | Neuromuscular diseases | Genetics | Mutation | Brain diseases
Journal Article
Frontiers in Neurology, ISSN 1664-2295, 10/2018, Volume 9, p. 849
Non-invasive focal mechanical vibrations (NIFMV) now represent a strategy of increasing interest to improve motor control in different neurological diseases.... 
Equistasi | Ataxia | Focal vibrations | Neuromodulation | Non-invasive stimulation | neuromodulation | equistasi | HEALTHY-SUBJECTS | REHABILITATION | ONSET ATAXIA | non-invasive stimulation | NEUROSCIENCES | CLINICAL NEUROLOGY | focal vibrations | Usage | Care and treatment | Medical supplies
Journal Article
Journal Article