Works matching DE "MUSCLE hypotonia in children"
Results: 52
Optico-cochleo-dentate degeneration associated with severe peripheral neuropathy and caused by peroxisomal D-bifunctional protein deficiency.
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- Acta Neuropathologica, 2004, v. 108, n. 2, p. 154, doi. 10.1007/s00401-004-0877-4
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- Publication type:
- Article
Pentasomy 49,XXXXY Associated with a Chiari Type 1 Malformation and Cervical Syrinx.
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- Pediatric Neurosurgery, 2007, v. 43, n. 1, p. 47, doi. 10.1159/000097526
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- Publication type:
- Article
Familial RYR 1 Mutation Associated with Mild and Severe Central Core Disease.
- Published in:
- 2010
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- Publication type:
- Case Study
Differentiation not Discrimination: Delivering the Curriculum for Children with Down's Syndrome in Mainstream Schools.
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- Support for Learning, 1998, v. 13, n. 4, p. 167, doi. 10.1111/1467-9604.00083
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- Article
Phenotypic Heterogeneity and Parental Origin of Extra Chromosome 21 in Down Syndrome.
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- Indian Pediatrics, 2010, v. 47, n. 5, p. 429, doi. 10.1007/s13312-010-0078-2
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- Article
PhD Abstract: The Identification of Clinically Relevant Gait Variables in Children With Hypotonia.
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- 2005
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- Publication type:
- Abstract
Effect of a Home-Based Virtual Reality Intervention for Children with Cerebral Palsy Using Super Pop VR Evaluation Metrics: A Feasibility Study.
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- Rehabilitation Research & Practice, 2015, v. 2015, p. 1, doi. 10.1155/2015/812348
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- Publication type:
- Article
Performance of acute flaccid paralysis surveillance compared with World Health Organization standards.
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- Journal of Paediatrics & Child Health, 2015, v. 51, n. 2, p. 209, doi. 10.1111/jpc.12691
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- Article
A Neonate with Recurrent Vomiting and Generalized Hypotonia Diagnosed with a Deficiency of Dihydropyrimidine Dehydrogenase.
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- Nucleosides, Nucleotides & Nucleic Acids, 2006, v. 25, n. 9-11, p. 1099, doi. 10.1080/15257770600894063
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- Publication type:
- Article
Research progress of floppy infant syndrome.
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- Chinese Journal of Contemporary Neurology & Neurosurgery, 2018, v. 18, n. 8, p. 573, doi. 10.3969/j.issn.1672-6731.2018.08.003
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- Article
Mutations in the IRBIT domain of ITPR1 are a frequent cause of autosomal dominant nonprogressive congenital ataxia.
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- Clinical Genetics, 2017, v. 91, n. 1, p. 86, doi. 10.1111/cge.12783
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- Publication type:
- Article
A mosaic maternal splice donor mutation in the EHMT1 gene leads to aberrant transcripts and to Kleefstra syndrome in the offspring.
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- European Journal of Human Genetics, 2013, v. 21, n. 8, p. 887, doi. 10.1038/ejhg.2012.267
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- Publication type:
- Article
Recessive mutations in the kinase ZAK cause a congenital myopathy with fibre type disproportion.
- Published in:
- 2017
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- Publication type:
- journal article
Occupational and physical therapy interventions for children with central hypotonia.
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- Developmental Medicine & Child Neurology, 2017, v. 59, p. 113, doi. 10.1111/dmcn.56_13512
- Publication type:
- Article
Neonatal hypertonia - a diagnostic challenge.
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- 2015
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- Publication type:
- journal article
The relation between trunk control and upper extremity functions.
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- Developmental Medicine & Child Neurology, 2015, v. 57, p. 19, doi. 10.1111/dmcn.12778_41
- Publication type:
- Article
Evaluation of the pediatric patient with hypotonia: don't forget the hypotonia-cystinuria syndrome!
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- Developmental Medicine & Child Neurology, 2012, v. 54, n. 3, p. 288, doi. 10.1111/j.1469-8749.2011.04195.x
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- Publication type:
- Article
Neurologic findings of nutritional vitamin B<sub>12</sub> deficiency in children.
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- Turkish Journal of Pediatrics, 2010, v. 52, n. 1, p. 17
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- Publication type:
- Article
Epidemiology and clinical characteristics of acute flaccid paralysis associated with non-polio ...
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- Bulletin of the World Health Organization, 1995, v. 73, n. 5, p. 597
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- Publication type:
- Article
Identification of a novel homozygous UNC80 variant in a child with infantile hypotonia with psychomotor retardation and characteristic facies-2 (IHPRF2).
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- Metabolic Brain Disease, 2018, v. 33, n. 3, p. 869, doi. 10.1007/s11011-018-0200-z
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- Publication type:
- Article
De novo chromosome 7q36.1q36.2 triplication in a child with developmental delay, growth failure, distinctive facial features, and multiple congenital anomalies: a case report.
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- 2017
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- Publication type:
- Case Study
Wild Poliovirus Importations -- West and Central Africa, January 2003-March 2004.
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- MMWR: Morbidity & Mortality Weekly Report, 2004, v. 53, n. 20, p. 433
- Publication type:
- Article
THE ROLE OF GYMNASTICS AND DANCE IN REHABILITATING MOTOR CAPACITIES IN CHILDREN WITH DOWN SYNDROME.
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- Sport & Society / Sport si Societate, 2014, v. 14, p. 102
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- Publication type:
- Article
Gangliozidóza GM1 asociovaná s mnohopočetnými mongolskými škvrnami.
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- Czecho-Slovak Pediatrics / Česko-Slovenská Pediatrie, 2012, v. 67, n. 4, p. 242
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- Publication type:
- Article
Evaluating Surveillance Indicators Supporting the Global Polio Eradication Initiative, 2011-2012.
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- MMWR: Morbidity & Mortality Weekly Report, 2013, v. 62, n. 14, p. 270
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- Publication type:
- Article
Neurofibromatosis type 1 (NF1) with an unusually severe phenotype due to digeny for NF1 and ryanodine receptor 1 associated myopathy.
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- European Journal of Pediatrics, 2014, v. 173, n. 12, p. 1691, doi. 10.1007/s00431-014-2314-6
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- Publication type:
- Article
A Hypotonic Infant.
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- Clinical Pediatrics, 1963, v. 2, n. 3, p. 127
- Publication type:
- Article
Resolution of severe cardiomyopathy in infantile Pompe disease.
- Published in:
- 2015
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- Publication type:
- journal article
A Pilot Study for Evaluation of Hypotonia in Children With Neurofibromatosis Type 1.
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- Journal of Child Neurology, 2015, v. 30, n. 3, p. 382, doi. 10.1177/0883073814531823
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- Publication type:
- Article
Congenital Hypotonia in a Child With a De Novo 22q13 Monosomy and 2pter Duplication: A Clinical and Molecular Genetic Study.
- Published in:
- 2011
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- Publication type:
- Case Study
Severe Infantile Hypotonia With Ethylmalonic Aciduria: Case Report.
- Published in:
- 2008
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- Publication type:
- Case Study
Cerebral and Cerebellar Motor Activation Abnormalities in a Subject With Joubert Syndrome: Functional Magnetic Resonance Imaging (MRI) Study.
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- Journal of Child Neurology, 2004, v. 19, n. 3, p. 214
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- Publication type:
- Article
Congenital Club Foot With Survival of Motor Neuron 1, Telomeric (SMN1) Gene Deletion.
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- Journal of Child Neurology, 2004, v. 19, n. 3, p. 212
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- Publication type:
- Article
Pelizaeus-Merzbacher Disease and Spastic Paraplegia Type 2: Two Faces of Myelin Loss From Mutations in the Same Gene.
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- Journal of Child Neurology, 2003, v. 18, n. 9, p. 616, doi. 10.1177/08830738030180090801
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- Publication type:
- Article
Molecular Basis of Canavan's Disease: From Human to Mouse.
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- Journal of Child Neurology, 2003, v. 18, n. 9, p. 604, doi. 10.1177/08830738030180090601
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- Publication type:
- Article
Clinical Features and Revised Diagnostic Criteria in Joubert Syndrome.
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- Journal of Child Neurology, 1999, v. 14, n. 9, p. 583
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- Publication type:
- Article
Remifentanil based anesthetic management for orchiopexy operation in pediatric patient with congenital hypotonia.
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- 2019
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- Publication type:
- Case Study
A structured approach to the assessment of a floppy neonate.
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- Journal of Pediatric Neurosciences, 2016, v. 11, n. 1, p. 2, doi. 10.4103/1817-1745.181250
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- Publication type:
- Article
Maternal administration of high dose vitamin D<sub>3</sub> for cerebral palsy in her child.
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- European Journal of Pediatrics, 2004, v. 163, n. 4/5, p. 279, doi. 10.1007/s00431-004-1414-0
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- Publication type:
- Article
Child with Edward’s syndrome for radiological procedure: An anesthetic challenge.
- Published in:
- 2017
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- Publication type:
- Letter to the Editor
Case 1: Unexpected muscular hypotonia and need for mechanical ventilation in a preterm infant (Case Presentation).
- Published in:
- Acta Paediatrica, 2008, v. 97, n. 12, p. 1602, doi. 10.1111/j.1651-2227.2008.00972.x
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- Publication type:
- Article
Case 1: Unexpected muscular hypotonia and need for mechanical ventilation in a preterm infant (Discussion and Diagnosis).
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- Acta Paediatrica, 2008, v. 97, n. 12, p. 1758, doi. 10.1111/j.1651-2227.2008.00973.x
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- Publication type:
- Article
Identification of a novel compound heterozygote SCO2 mutation in cytochrome c oxidase deficient fatal infantile cardioencephalomyopathy.
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- Acta Paediatrica, 2007, v. 96, n. 1, p. 130, doi. 10.1111/j.1651-2227.2007.00008.x
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- Publication type:
- Article
Quantitative skeletal muscle ultrasonography in children with suspected neuromuscular disease.
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- Muscle & Nerve, 2003, v. 27, n. 6, p. 699, doi. 10.1002/mus.10385
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- Publication type:
- Article
Acute flaccid myelitis in childhood: a retrospective cohort study.
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- European Journal of Neurology, 2017, v. 24, n. 8, p. 1077, doi. 10.1111/ene.13345
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- Publication type:
- Article
Novel LRPPRC compound heterozygous mutation in a child with early-onset Leigh syndrome French-Canadian type: case report of an Italian patient.
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- Italian Journal of Pediatrics, 2020, v. 46, n. 1, p. N.PAG, doi. 10.1186/s13052-020-00903-7
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- Publication type:
- Article
Macrocerebellum: Significance and Pathogenic Considerations.
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- Cerebellum, 2012, v. 11, n. 4, p. 1026, doi. 10.1007/s12311-012-0379-1
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- Publication type:
- Article
Hypogonadotropic Hypogonadism and Kleefstra Syndrome due to a Pathogenic Variant in the EHMT1 Gene: An Underrecognized Association.
- Published in:
- 2018
- By:
- Publication type:
- Case Study
Nemaline rod myopathy: a rare form of myopathy.
- Published in:
- 2007
- By:
- Publication type:
- journal article
Multi-minicore disease: a rare form of myopathy.
- Published in:
- 2007
- By:
- Publication type:
- journal article