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1. Full Text Growing rods for scoliosis in spinal muscular atrophy: Structural effects, complications, and hospital stays
by McElroy, Mark J and Shaner, Adam C and Crawford, Thomas O and Thompson, George H and Kadakia, Rishi V and Akbarnia, Behrooz A and Skaggs, David L and Emans, John B and Sponseller, Paul D
Spine, ISSN 0362-2436, 07/2011, Volume 36, Issue 16, pp. 1305 - 1311
Study Design. Retrospective analysis of patients with spinal muscular atrophy (SMA) treated with growing rod (GR) instrumentation for scoliosis. Objective. To... 
growing rods | complication | neuromuscular | spinal muscular atrophy | scoliosis | MANAGEMENT | FUSION | EARLY-ONSET SCOLIOSIS | NATURAL-HISTORY | ORTHOPEDICS | CLINICAL NEUROLOGY | Length of Stay | Sacrum - pathology | Spinal Fusion - methods | Postoperative Complications - etiology | Thoracic Vertebrae - diagnostic imaging | Follow-Up Studies | Humans | Child, Preschool | Infant | Male | Treatment Outcome | Spinal Fusion - adverse effects | Spinal Fusion - instrumentation | Radiography | Scoliosis - surgery | Scoliosis - complications | Time Factors | Internal Fixators | Sacrum - diagnostic imaging | Female | Retrospective Studies | Muscular Atrophy, Spinal - complications | Thoracic Vertebrae - pathology | Child | Index Medicus
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2. Full Text Outcomes of Primary Posterior Spinal Fusion for Scoliosis in Spinal Muscular Atrophy: Clinical, Radiographic, and Pulmonary Outcomes and Complications
by Holt, Joshua B and Dolan, Lori A and Weinstein, Stuart L
Journal of Pediatric Orthopaedics, ISSN 0271-6798, 12/2017, Volume 37, Issue 8, pp. e505 - e511
BACKGROUND:Spinal muscular atrophy (SMA) is a progressive neuromuscular disease commonly including progressive scoliosis resulting in severe deformity and... 
MANAGEMENT | scoliosis | EARLY-ONSET SCOLIOSIS | spine | posterior spinal fusion | NATURAL-HISTORY | RIBS | CHILDREN | neuromuscular | CONGENITAL SCOLIOSIS | DISEASE | PEDIATRICS | spinal muscular atrophy | ORTHOPEDICS | Spinal Fusion - methods | Humans | Male | Treatment Outcome | Lung - physiopathology | Disease Progression | Scoliosis - etiology | Scoliosis - surgery | Young Adult | Adolescent | Adult | Female | Retrospective Studies | Muscular Atrophy, Spinal - complications | Respiratory Function Tests | Child | Index Medicus
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3. Full Text Consensus Statement for Standard of Care in Spinal Muscular Atrophy
by Wang, Ching H and Finkel, Richard S and Bertini, Enrico S and Schroth, Mary and Simonds, Anita and Wong, Brenda and Aloysius, Annie and Morrison, Leslie and Main, Marion and Crawford, Thomas O and Trela, Anthony and Participants Int Conf SMA Stand C and Participants of the International Conference on SMA Standard of Care
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 | Index Medicus
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4. Full Text Non-neural phenotype of spinal and bulbar muscular atrophy: results from a large cohort of Italian patients
by Querin, Giorgia and Bertolin, Cinzia and Da Re, Elisa and Volpe, Marco and Zara, Gabriella and Pegoraro, Elena and Caretta, Nicola and Foresta, Carlo and Silvano, Maria and Corrado, Domenico and Iafrate, Massimo and Angelini, Lorenzo and Sartori, Leonardo and Pennuto, Maria and Gaiani, Alessandra and Bello, Luca and Semplicini, Claudio and Pareyson, Davide and Silani, Vincenzo and Ermani, Mario and Ferlin, Alberto and Sorarù, Gianni and Italian Study Grp Kennedy's Dis and Italian Study Group on Kennedy's disease
Journal of Neurology, Neurosurgery & Psychiatry, ISSN 0022-3050, 08/2016, Volume 87, Issue 8, pp. 810 - 816
ObjectiveTo carry out a deep characterisation of the main androgen-responsive tissues involved in spinal and bulbar muscular atrophy (SBMA).Methods73... 
SURGERY | KENNEDY DISEASE | BRUGADA SYNDROME | SBMA | PSYCHIATRY | OSTEOPOROSIS | CLINICAL NEUROLOGY | PRESSURE-FLOW | FEATURES | DYSFUNCTION | CAG-REPEAT | HETEROZYGOUS FEMALES | ANDROGEN RECEPTOR GENE | Muscular Atrophy, Spinal - metabolism | Bone Density | Creatine Kinase - blood | Humans | Middle Aged | Male | Muscular Atrophy, Spinal - pathology | Androgen-Insensitivity Syndrome - complications | Case-Control Studies | Phenotype | Lipids - blood | Adult | Italy | Aged | Muscle, Skeletal - pathology | Muscular Atrophy, Spinal - complications | Urologic Diseases - complications | Blood Glucose - metabolism | Muscular Atrophy, Spinal - physiopathology | Central nervous system diseases | Cohort analysis | Care and treatment | Research | Patients | Methods | Index Medicus | 1506 | Neuromuscular
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5. Full Text Scapuloperoneal spinal muscular atrophy and CMT2C are allelic disorders caused by alterations in TRPV4
by Siddique, Nailah and Fecto, Faisal and Wu, Yanhong and Yang, Yi and Siddique, Teepu and Shi, Yong and Yau, Hau-Jie and Martina, Marco and Dyck, Peter J and Deng, Han-Xiang and Zhai, Hong and Yan, Jianhua and DeLong, Robert and Hedley-Whyte, E Tessa and Klein, Christopher J
Nature Genetics, ISSN 1061-4036, 02/2010, Volume 42, Issue 2, pp. 165 - 169
Scapuloperoneal spinal muscular atrophy (SPSMA) and hereditary motor and sensory neuropathy type IIC (HMSN IIC, also known as HMSN2C or Charcot-Marie-Tooth... 
MARIE-TOOTH-DISEASE | HEREDITARY MOTOR | NEUROPATHY | VARIANTS | GENE | CATION CHANNEL | GENETICS & HEREDITY | MICE | MUTATIONS | ANKYRIN REPEAT DOMAIN | Hypotonic Solutions - pharmacology | Humans | Molecular Sequence Data | Male | Protein Transport - drug effects | Charcot-Marie-Tooth Disease - genetics | Muscular Atrophy, Spinal - genetics | Transfection | DNA Mutational Analysis | Base Sequence | Female | Cell Membrane - metabolism | Muscular Atrophy, Spinal - physiopathology | Cell Membrane - drug effects | Amino Acid Sequence | Cell Line | Charcot-Marie-Tooth Disease - complications | TRPV Cation Channels - chemistry | Mutant Proteins - metabolism | Mutation - genetics | Muscular Atrophy, Spinal - pathology | TRPV Cation Channels - genetics | Pedigree | Alleles | Charcot-Marie-Tooth Disease - physiopathology | Muscular Atrophy, Spinal - complications | Ion Channel Gating - drug effects | Calcium channels | Gene mutations | Physiological aspects | Genetic aspects | Research | Health aspects | Risk factors | Spinal muscular atrophy | Proteins | Mutation | Data bases | Neurological disorders | Fibers | Index Medicus
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6. Full Text Vascular Defects and Spinal Cord Hypoxia in Spinal Muscular Atrophy
by Somers, Eilidh and Lees, Robert D and Hoban, Katie and Sleigh, James N and Zhou, Haiyan and Muntoni, Francesco and Talbot, Kevin and Gillingwater, Thomas H and Parson, Simon H
Annals of Neurology, ISSN 0364-5134, 02/2016, Volume 79, Issue 2, pp. 217 - 230
ObjectiveSpinal muscular atrophy (SMA) is a major inherited cause of infant death worldwide. It results from mutations in a single, ubiquitously expressed gene... 
SURVIVAL | OXIDATIVE STRESS | MOTOR-NEURON DEGENERATION | ENDOTHELIAL-CELLS | DISEASE | MUSCLE | MICE | NEUROMUSCULAR-JUNCTION | CARDIAC DEFECTS | NEUROSCIENCES | MOUSE MODELS | CLINICAL NEUROLOGY | Animals, Newborn | Muscular Atrophy, Spinal - metabolism | Spinal Cord - metabolism | Vascular Diseases - pathology | Capillaries - pathology | Vascular Diseases - etiology | Humans | Hypoxia - etiology | Child, Preschool | Infant | Male | Spinal Cord - blood supply | Capillaries - growth & development | Muscular Atrophy, Spinal - pathology | Hypoxia - metabolism | Motor Neurons - metabolism | Animals | Female | Mice | Muscular Atrophy, Spinal - complications | Vascular Diseases - metabolism | Infant, Newborn | Disease Models, Animal | Muscle, Skeletal - blood supply | Spinal cord | Animal models | Pathogenesis | SMN protein | Motor task performance | Assaying | Blood | Defects | Spinal muscular atrophy | Atrophy | Functional anatomy | Rodents | Skeleton | Motor neurons | Architecture | Neurons | Mortality | Patients | Skeletal muscle | Pathology | Musculoskeletal system | Depletion | Rope | Biopsy | Hypoxia | Death | Mutation | Integrity | Index Medicus
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7. Full Text Alterations in the ankyrin domain of TRPV4 cause congenital distal SMA, scapuloperoneal SMA and HMSN2C
by Auer-Grumbach, M and Olschewski, A and Papic, L and Kremer, J.M.J and McEntagart, M.E and Uhrig, S and Fischer, C and Frohlich, E and Balint, Z and Tang, B and Strohmaier, H and Lochmuller, H and Schlotter-Weigel, B and Senderek, J and Krebs, A and Dick, K.J and Petty, R and Longman, C and Anderson, N.E and Padberg, G.W.A.M and Schelhaas, H.J and Ravenswaaij-Arts, C.M.A. van and Pieber, T.R and Crosby, A.H and Guelly, C
Nature Genetics, ISSN 1061-4036, 2010, Volume 42, Issue 2, pp. 160 - 164
Spinal muscular atrophies (SMA, also known as hereditary motor neuropathies) and hereditary motor and sensory neuropathies (HMSN) are clinically and... 
LOCALIZATION | BIND | SPINAL MUSCULAR-ATROPHY | CATION CHANNEL | REPEAT DOMAIN | DISEASE | GENETICS & HEREDITY | TRAFFICKING | SENSITIVITY | MICE | Immunohistochemistry | Calcium - metabolism | Hereditary Sensory and Motor Neuropathy - genetics | Humans | Muscular Atrophy, Spinal - congenital | Models, Molecular | Molecular Sequence Data | TRPV Cation Channels - chemistry | Mutant Proteins - metabolism | Ankyrin Repeat | Osmosis | Mutation - genetics | TRPV Cation Channels - genetics | Muscular Atrophy, Spinal - genetics | Hereditary Sensory and Motor Neuropathy - physiopathology | Hereditary Sensory and Motor Neuropathy - complications | Transfection | Intracellular Space - metabolism | Amino Acid Substitution - genetics | HeLa Cells | Muscular Atrophy, Spinal - complications | Ion Channel Gating | Muscular Atrophy, Spinal - physiopathology | Physiological aspects | Genetic aspects | Ion channels | Research | Neuropathies, Hereditary motor and sensory | Risk factors | Spinal muscular atrophy | Studies | Proteins | Genotype & phenotype | Medical research | Genetics | Index Medicus
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8. Full Text Tongue Fasciculations and Electrocardiographic Tremors in Spinal Muscular Atrophy
by Sharawat, Indar Kumar and Sankhyan, Naveen
The Journal of Pediatrics, ISSN 0022-3476, 06/2018, Volume 197, pp. 314 - 314
clinical neurology | movement disorder | Anterior horn cell | clinical examination | PEDIATRICS | Muscular Atrophy, Spinal - diagnosis | Humans | Survival of Motor Neuron 1 Protein - genetics | Electrocardiography | Fasciculation - etiology | Female | Muscular Atrophy, Spinal - complications | Mutation | Tremor - etiology | Child | Index Medicus | Abridged Index Medicus
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9. Full Text Arrhythmia and cardiac defects are a feature of spinal muscular atrophy model mice
by Heier, Christopher R and Satta, Rosalba and Lutz, Cathleen and Didonato, Christine J
Human Molecular Genetics, ISSN 0964-6906, 08/2010, Volume 19, Issue 20, pp. 3906 - 3918
Proximal spinal muscular atrophy (SMA) is the leading genetic cause of infant mortality. Traditionally, SMA has been described as a motor neuron disease;... 
SMN2 GENE | NMD MOUSE | BIOCHEMISTRY & MOLECULAR BIOLOGY | CONGENITAL HEART-DISEASE | MOUSE MODEL | GENETICS & HEREDITY | AMYOTROPHIC-LATERAL-SCLEROSIS | KUGELBERG-WELANDER SYNDROME | DILATED CARDIOMYOPATHY | GUINEA-PIG | INFANT DEATH SYNDROME | TRANSGENIC RESCUE | Echocardiography | Heart Block - physiopathology | Bradycardia - physiopathology | Mice, Transgenic | Myocardium - pathology | Sympathetic Nervous System - physiopathology | Motor Activity | Mice, Knockout | Heart Rate - drug effects | Muscular Atrophy, Spinal - genetics | Animals | Electrocardiography | Muscular Atrophy, Spinal - drug therapy | Mice | Sympathetic Nervous System - pathology | Heart Block - etiology | Muscular Atrophy, Spinal - complications | Hydroxamic Acids - pharmacology | Muscular Atrophy, Spinal - physiopathology | Bradycardia - drug therapy | Disease Models, Animal | Heart - innervation | Index Medicus
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10. Full Text Six-minute walk test demonstrates motor fatigue in spinal muscular atrophy
by Montes, J and McDermott, M.P and Martens, W.B and Dunaway, S and Glanzman, A.M and Riley, S and Quigley, J and Montgomery, M.J and Sproule, D and Tawil, R and Chung, W.K and Darras, B.T and De Vivo, D.C and Kaufmann, P and Finkel, R.S and Muscle Study Grp and Muscle Study Group and the Pediatric Neuromuscular Clinical Research Network and For the Muscle Study Group and the Pediatric Neuromuscular Clinical Research Network
Neurology, ISSN 0028-3878, 2010, Volume 74, Issue 10, pp. 833 - 838
Background: In spinal muscular atrophy (SMA), weakness, decreased endurance, and fatigue limit mobility. Scales have been developed to measure function across... 
CAPACITY | HEALTHY-CHILDREN | ADOLESCENTS | DISORDERS | PULMONARY-FUNCTION | RELIABILITY | STRENGTH | NATURAL-HISTORY | CEREBRAL-PALSY | ENZYME REPLACEMENT THERAPY | CLINICAL NEUROLOGY | Muscle Strength Dynamometer | Cross-Sectional Studies | Humans | Middle Aged | Child, Preschool | Fatigue - etiology | Male | Fatigue - diagnosis | Walking - physiology | Young Adult | Exercise Test - methods | Vital Capacity - physiology | Adolescent | Statistics, Nonparametric | Adult | Female | Retrospective Studies | Muscular Atrophy, Spinal - complications | Child | Index Medicus | Abridged Index Medicus
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11. Full Text TBCE Mutations Cause Early-Onset Progressive Encephalopathy with Distal Spinal Muscular Atrophy
by Sferra, Antonella and Baillat, Gilbert and Rizza, Teresa and Barresi, Sabina and Flex, Elisabetta and Tasca, Giorgio and D’Amico, Adele and Bellacchio, Emanuele and Ciolfi, Andrea and Caputo, Viviana and Cecchetti, Serena and Torella, Annalaura and Zanni, Ginevra and Diodato, Daria and Piermarini, Emanuela and Niceta, Marcello and Coppola, Antonietta and Tedeschi, Enrico and Martinelli, Diego and Dionisi-Vici, Carlo and Nigro, Vincenzo and Dallapiccola, Bruno and Compagnucci, Claudia and Tartaglia, Marco and Haase, Georg and Bertini, Enrico
The American Journal of Human Genetics, ISSN 0002-9297, 10/2016, Volume 99, Issue 4, pp. 974 - 983
Tubulinopathies constitute a family of neurodevelopmental/neurodegenerative disorders caused by mutations in several genes encoding tubulin isoforms.... 
MOUSE MUTANT | GENETICS & HEREDITY | GOLGI-APPARATUS | MISSENSE MUTATION | FRAMEWORK | NEURONS | HYPOPARATHYROIDISM-RETARDATION-DYSMORPHISM | MICE | MOTOR-NEURONOPATHY | TUBULIN | FRAGMENTATION | Molecular Chaperones - metabolism | Humans | Brain Diseases - genetics | Nocodazole - pharmacology | Infant | Male | Young Adult | Muscular Atrophy, Spinal - genetics | Microtubules - metabolism | Tubulin - metabolism | Spindle Apparatus - metabolism | Microtubules - drug effects | Fibroblasts | Female | Child | Infant, Newborn | Molecular Chaperones - genetics | Spindle Apparatus - pathology | Microtubules - pathology | Mutation - genetics | Homozygote | Animals | Brain Diseases - complications | Adolescent | Age of Onset | Heterozygote | Italy | Mice | Muscular Atrophy, Spinal - complications | Causes of | Genetic aspects | Gene mutations | Health aspects | Atrophy, Muscular | Encephalopathy | Genotype & phenotype | Genetics | Neuromuscular diseases | Mutation | Brain diseases | Index Medicus | Life Sciences | Human health and pathology | Pediatrics | Neurons and Cognition | Neurobiology | Human genetics | Report
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