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Outcome of Early Juvenile Onset Metachromatic Leukodystrophy After Unrelated Cord Blood Transplantation.
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- Journal of Child Neurology, 2016, v. 31, n. 3, p. 338, doi. 10.1177/0883073815595078
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- Publication type:
- Article
Correlates of calf cramp in children with Charcot- Marie-Tooth disease.
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- 2012
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- Publication type:
- Abstract
Calf cramp in children with Charcot-Marie-Tooth disease: searching for therapeutic targets.
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- 2011
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- Publication type:
- Abstract
Development, reliability and validity of the Charcot-Marie-Tooth disease Pediatric Scale (CMTPedS).
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- 2011
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- Abstract
GRIN2A mutations cause epilepsy-aphasia spectrum disorders.
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- Nature Genetics, 2013, v. 45, n. 9, p. 1073, doi. 10.1038/ng.2727
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- Article
Mutations in the gene encoding immunoglobulin μ-binding protein 2 cause spinal muscular atrophy with respiratory distress type 1.
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- Nature Genetics, 2001, v. 29, n. 1, p. 75, doi. 10.1038/ng703
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- Article
Randomized trial of botulinum toxin to prevent pes cavus progression in pediatric charcot-marie-tooth disease type 1A.
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- Muscle & Nerve, 2010, v. 42, n. 2, p. 262, doi. 10.1002/mus.21685
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- Article
Evolution of foot and ankle manifestations in children with CMT1A.
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- Muscle & Nerve, 2009, v. 39, n. 2, p. 158, doi. 10.1002/mus.21140
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- Publication type:
- Article
Reliability of quantifying foot and ankle muscle strength in very young children.
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- Muscle & Nerve, 2008, v. 37, n. 5, p. 626, doi. 10.1002/mus.20961
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- Publication type:
- Article
Autosomal-recessive and X-linked forms of hereditary motor and sensory neuropathy in childhood.
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- Muscle & Nerve, 2007, v. 36, n. 2, p. 131, doi. 10.1002/mus.20776
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- Article
Severe infantile axonal neuropathy with respiratory failure.
- Published in:
- 2001
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- Publication type:
- journal article
Charcot-Marie-Tooth disease: histopathological features of the peripheral myelin protein (PMP22) duplication (CMT1A) and connexin32 mutations (CMTX1).
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- 1998
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- Publication type:
- journal article
Magnetic resonance imaging in enterovirus-71, myelin oligodendrocyte glycoprotein antibody, aquaporin-4 antibody, and multiple sclerosis-associated myelitis in children.
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- 2019
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- Publication type:
- journal article
Auditory neuropathy in Brown-Vialetto-Van Laere syndrome due to riboflavin transporter RFVT2 deficiency.
- Published in:
- 2016
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- Publication type:
- journal article
Eye movement disorders are an early manifestation of CACNA1A mutations in children.
- Published in:
- 2016
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- Publication type:
- journal article
Peripheral neuropathy associated with mitochondrial disease in children.
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- Developmental Medicine & Child Neurology, 2012, v. 54, n. 5, p. 407, doi. 10.1111/j.1469-8749.2012.04271.x
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- Publication type:
- Article
What can we learn from the history of Charcot-Marie-Tooth disease?
- Published in:
- 2010
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- Publication type:
- Editorial
Mechanisms of disease and clinical features of mutations of the gene for mitofusin 2: an important cause of hereditary peripheral neuropathy with striking clinical variability in children and adults.
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- Developmental Medicine & Child Neurology, 2010, v. 52, n. 4, p. 328, doi. 10.1111/j.1469-8749.2010.03613.x
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- Publication type:
- Article
Hyperventilation and the Pitt-Hopkins syndrome.
- Published in:
- 2008
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- Publication type:
- Editorial
ICNA: an open door to citizenship of the world.
- Published in:
- 2007
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- Publication type:
- Editorial
Peripheral neuropathies of infancy.
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- Developmental Medicine & Child Neurology, 2003, v. 45, n. 6, p. 408, doi. 10.1017/S0012162203000768
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- Publication type:
- Article
Brief cognitive screening and self concepts for children with low intellectual functioning.
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- British Journal of Clinical Psychology, 2002, v. 41, n. 1, p. 93, doi. 10.1348/014466502163831
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- Article
Fifty years of paediatric neurology in Australasia.
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- 2016
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- Publication type:
- journal article
Henri Parinaud and his Syndrome.
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- Medical Journal of Australia, 1993, v. 158, n. 10, p. 711, doi. 10.5694/j.1326-5377.1993.tb121924.x
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- Publication type:
- Article
Pes cavus pathogenesis in Charcot–Marie–Tooth disease type 1A.
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- Brain: A Journal of Neurology, 2006, v. 129, n. 7, p. E50, doi. 10.1093/brain/awl116
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- Publication type:
- Article
Validation of the Charcot-Marie-Tooth disease pediatric scale as an outcome measure of disability.
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- Annals of Neurology, 2012, v. 71, n. 5, p. 642, doi. 10.1002/ana.23572
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- Article
Actin mutations are one cause of congenital fibre type disproportion.
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- Annals of Neurology, 2004, v. 56, n. 5, p. 689
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- Publication type:
- Article
Infantile spinal muscular atrophy with respiratory distress type 1 (SMARD1).
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- Annals of Neurology, 2003, v. 54, n. 6, p. 719
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- Publication type:
- Article
Henri Parinaud (1844-1905).
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- Journal of Neurology, 2011, v. 258, n. 8, p. 1571, doi. 10.1007/s00415-011-5919-y
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- Publication type:
- Article
Peripheral nerve disease secondary to systemic conditions in children.
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- Therapeutic Advances in Neurological Disorders, 2019, p. N.PAG, doi. 10.1177/1756286419866367
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- Publication type:
- Article
Peripheral nerve disease secondary to systemic conditions in children.
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- Therapeutic Advances in Neurological Disorders, 2019, v. 12, p. N.PAG, doi. 10.1177/1756286419866367
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- Publication type:
- Article
Cognitive Screening for Children and Adolescents: General Limits or Ceiling Effects?
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- Journal of Child Neurology, 2010, v. 25, n. 5, p. 567, doi. 10.1177/0883073809352686
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- Publication type:
- Article
Quality of Life in Children With Charcot-Marie-Tooth Disease.
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- Journal of Child Neurology, 2010, v. 25, n. 3, p. 343, doi. 10.1177/0883073809339877
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- Publication type:
- Article
Cognitive Screening for Young Children: Development and Diversity in Learning Contexts.
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- Journal of Child Neurology, 2004, v. 19, n. 5, p. 313, doi. 10.1177/088307380401900501
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- Publication type:
- Article
Test Reliability and Stability of Children's Cognitive Functioning.
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- Journal of Child Neurology, 2003, v. 18, n. 1, p. 5, doi. 10.1177/08830738030180010901
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- Publication type:
- Article
SYSTEMS: School-Years Screening Test for the Evaluation of Mental Status.
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- Journal of Child Neurology, 1999, v. 14, n. 12, p. 772, doi. 10.1177/088307389901401202
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- Article
Drug Therapy in Juvenile Dermatomyositis: Follow-Up Study.
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- Journal of Child Neurology, 1998, v. 13, n. 3, p. 109
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- Publication type:
- Article
Brief Communications.
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- Journal of Child Neurology, 1997, v. 12, n. 4, p. 270
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- Publication type:
- Article
Correlation Between the Histopathologic, Genotypic, and Phenotypic Features of Hereditary Peripheral Neuropathies in Childhood.
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- Journal of Child Neurology, 1996, v. 11, n. 2, p. 133, doi. 10.1177/088307389601100214
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- Publication type:
- Article
Idiopathic Hypothalamic Dysfunction With Dilated Unresponsive Pupils: Report of Two Cases.
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- Journal of Child Neurology, 1994, v. 9, n. 3, p. 320, doi. 10.1177/088307389400900320
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- Publication type:
- Article
Pseudoseizures Caused by Hyperventilation Resembling Absence Epilepsy.
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- Journal of Child Neurology, 1990, v. 5, n. 4, p. 288, doi. 10.1177/088307389000500403
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- Article
Benign Paroxysmal Tonic Upgaze of Childhood.
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- Journal of Child Neurology, 1988, v. 3, n. 3, p. 177, doi. 10.1177/088307388800300305
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- Article
Review Article: Optic Nerve Hypoplasia: A Review.
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- Journal of Child Neurology, 1986, v. 1, n. 3, p. 181, doi. 10.1177/088307388600100302
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- Publication type:
- Article
Primary nerve repair following resection of a neurenteric cyst of the oculomotor nerve.
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- Journal of Neurosurgery, 2012, p. 45, doi. 10.3171/2011.10.PEDS10548
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- Publication type:
- Article
Progressive dystonia with marked diurnal fluctuation.
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- Annals of Neurology, 1978, v. 4, n. 5, p. 412, doi. 10.1002/ana.410040505
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- Article
Pediatric neurology. Principles and practice. Vols I and II.
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- Medical Journal of Australia, 1990, v. 152, n. 7, p. 378, doi. 10.5694/j.1326-5377.1990.tb125213.x
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- Publication type:
- Article
Japanese encephalitis after a two‐week holiday in Bali.
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- Medical Journal of Australia, 1989, v. 150, n. 6, p. 334, doi. 10.5694/j.1326-5377.1989.tb136498.x
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- Publication type:
- Article
Phenotypic insights into ADCY5-associated disease.
- Published in:
- 2016
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- Publication type:
- journal article
X-linked dystonia-deafness syndrome.
- Published in:
- Movement Disorders, 1998, v. 13, n. 2, p. 303, doi. 10.1002/mds.870130217
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- Publication type:
- Article
De novo mutation of the myelin Po gene in Déjérine-Sottas disease (hereditary motor and sensory neuropathy type III): Two amino acid insertion after Asp 118.
- Published in:
- Human Mutation, 1998, v. 11, p. S103, doi. 10.1002/humu.1380110134
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- Publication type:
- Article