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Fukuyama congenital muscular dystrophy: Cortical dysplasia of the cerebrum in a 20 week fetus.
- Published in:
- Neuropathology, 1996, v. 16, n. 3, p. 184, doi. 10.1111/j.1440-1789.1996.tb00180.x
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- Publication type:
- Article
Fukuyama Type Congenital Progressive Muscular Dystrophy (FCMD) - Special Comment on the Relationship Between the Case Reported by Nakayama et a1 and FCMD -.
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- Neuropathology, 1993, v. 13, n. 4, p. 259, doi. 10.1111/j.1440-1789.1993.tb00206.x
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- Article
A functional analysis of GABARAP on 17p13.1 by knockdown zebrafish.
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- Journal of Human Genetics, 2010, v. 55, n. 3, p. 155, doi. 10.1038/jhg.2010.1
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- Article
Neuropsychological study of localization-related epilepsy in children.
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- Psychiatry & Clinical Neurosciences, 1995, v. 49, n. 3, p. S270, doi. 10.1111/j.1440-1819.1995.tb02203.x
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- Article
Acute Effects of Various GABA Receptor Agonists and Glutamate Antagonists on Focal Hippocampal Seizures in Freely Moving Rats Elicited by Low-Frequency Stimulation
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- Synapse, 1998, v. 28, n. 1, p. 103
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- Publication type:
- Article
The Muscular Dystrophies Associated with Central Nervous System Lesions: A Brief Review from a Standpoint of the Localization and Function of Causative Genes.
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- Current Pediatric Reviews, 2014, v. 10, n. 4, p. 282
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- Publication type:
- Article
High-dose chemotherapy followed by autologous and allogeneic peripheral blood stem cell transplantation for recurrent disseminated trilateral retinoblastoma.
- Published in:
- 2011
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- Publication type:
- Report
High-density areas on muscle CT in childhood-onset Pompe disease are caused by excess calcium accumulation.
- Published in:
- 2010
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- Publication type:
- Report
Fukutin expression in glial cells and neurons: implication in the brain lesions of Fukuyama congenital muscular dystrophy.
- Published in:
- Acta Neuropathologica, 2002, v. 104, n. 3, p. 217, doi. 10.1007/s00401-002-0542-8
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- Article
Extensive morphological and immunohistochemical characterization in myotubular myopathy.
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- Brain & Behavior, 2013, v. 3, n. 4, p. 476, doi. 10.1002/brb3.147
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- Publication type:
- Article
EXPRESSION LEVEL OF STEROL REGULATORY ELEMENT-BINDING PROTEINS IN A NOVEL RAT MODEL OF METABOLIC SYNDROME.
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- Clinical & Experimental Pharmacology & Physiology, 2007, v. 34, p. S17, doi. 10.1111/j.1440-1681.2007.04763.x
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- Article
Post-transcriptional regulation of fukutin in an astrocytoma cell line.
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- International Journal of Experimental Pathology, 2012, v. 93, n. 1, p. 46, doi. 10.1111/j.1365-2613.2011.00799.x
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- Article
A role of fukutin, a gene responsible for Fukuyama type congenital muscular dystrophy, in cancer cells: a possible role to suppress cell proliferation.
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- International Journal of Experimental Pathology, 2008, v. 89, n. 5, p. 332, doi. 10.1111/j.1365-2613.2008.00599.x
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- Publication type:
- Article
A case of Turner's syndrome with Graves' disease and primary hyperparathyroidism.
- Published in:
- SAGE Open Medical Case Reports, 2021, v. 9, p. 1, doi. 10.1177/2050313X211059002
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- Publication type:
- Article
Epilepsy associated with Graves' disease: Report of two cases.
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- SAGE Open Medical Case Reports, 2024, p. 1, doi. 10.1177/2050313X241272569
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- Publication type:
- Article
Antisense PMO Found in Dystrophic Dog Model Was Effective in Cells from Exon 7-Deleted DMD Patient.
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- PLoS ONE, 2010, v. 5, n. 8, p. 1, doi. 10.1371/journal.pone.0012239
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- Article
Effect of sitting position on respiratory status in preterm infants.
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- Journal of Perinatal Medicine, 2009, v. 37, n. 4, p. 407, doi. 10.1515/JPM.2009.059
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- Article
Turner syndrome with idiopathic thrombocytopenic purpura in childhood.
- Published in:
- 2019
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- Publication type:
- Case Study
Effect of ACTH Therapy for Epileptic Spasms without Hypsarrhythmia.
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- Epilepsia (Series 4), 2005, v. 46, n. 5, p. 709, doi. 10.1111/j.1528-1167.2005.37504.x
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- Article
Epilepsy and Pregnancy.
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- Epilepsia (Series 4), 2004, v. 45, p. 37, doi. 10.1111/j.0013-9580.2004.458008.x
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- Article
Benign Familial Infantile Convulsions: Linkage to Chromosome 16p12-q12 in 14 Families.
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- Epilepsia (Series 4), 2004, v. 45, n. 6, p. 601, doi. 10.1111/j.0013-9580.2004.48203.x
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- Article
Rasmussen Syndrome: Multifocal Spread of Inflammation Suggested from MRI and PET Findings.
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- Epilepsia (Series 4), 2003, v. 44, n. 8, p. 1118, doi. 10.1046/j.1528-1157.2003.67602.x
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- Publication type:
- Article
EEG in Children with Early-onset Benign Occipital Seizure Susceptibility Syndrome: Panayiotopoulos Syndrome.
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- Epilepsia (Series 4), 2003, v. 44, n. 3, p. 435, doi. 10.1046/j.1528-1157.2003.47702.x
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- Publication type:
- Article
Study on Photo-Pattern Sensitivity in Patients with Electronic Screen Game–Induced Seizures (ESGS): Effects of Spatial Resolution, Brightness, and Pattern Movement.
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- Epilepsia (Series 4), 2001, v. 42, n. 9, p. 1185, doi. 10.1046/j.1528-1157.2001.26000.x
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- Publication type:
- Article
A Study of the Effect of Color Photostimulation from a Cathode-ray Tube (CRT) Display on Photosensitive Patients: The Effect of Alternating Red–Cyan Flicker Stimulation.
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- Epilepsia (Series 4), 2001, v. 42, n. 7, p. 922, doi. 10.1046/j.1528-1157.2001.042007922.x
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- Article
An ancient retrotransposal insertion causes Fukuyama-type congenital muscular dystrophy.
- Published in:
- Nature, 1998, v. 394, n. 6691, p. 388, doi. 10.1038/28653
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- Article
Shared molecular targets in pediatric gliomas and ependymomas.
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- Pediatric Blood & Cancer, 2011, v. 57, n. 7, p. 1117, doi. 10.1002/pbc.23009
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- Publication type:
- Article
Aromaticl-amino acid decarboxylase deficiency associated with epilepsy mimicking non-epileptic involuntary movements.
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- Developmental Medicine & Child Neurology, 2008, v. 50, n. 11, p. 876, doi. 10.1111/j.1469-8749.2008.03094.x
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- Article
Mutational analysis of CACNA1G in idiopathic generalized epilepsy.
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- Human Mutation, 2007, v. 28, n. 5, p. 524, doi. 10.1002/humu.9491
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- Article
A modified Atkins diet is promising as a treatment for glucose transporter type 1 deficiency syndrome.
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- Developmental Medicine & Child Neurology, 2011, v. 53, n. 7, p. 658, doi. 10.1111/j.1469-8749.2011.03961.x
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- Article
Localization of laminin subunits in the central nervous system in Fukuyama congenital muscular dystrophy: an immunohistochemical investigation.
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- Acta Neuropathologica, 1997, v. 94, n. 2, p. 173, doi. 10.1007/s004010050690
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- Article
Arginase deficiency with parotid gland swelling and hyperamylasemia: A case report.
- Published in:
- 2023
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- Publication type:
- Case Study
A case of Turner's syndrome with Graves' disease and primary hyperparathyroidism.
- Published in:
- SAGE Open Medical Case Reports, 2021, v. 9, p. 1, doi. 10.1177/2050313X211059002
- By:
- Publication type:
- Article
CUX2 deficiency causes facilitation of excitatory synaptic transmission onto hippocampus and increased seizure susceptibility to kainate.
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- Scientific Reports, 2022, v. 12, n. 1, p. 1, doi. 10.1038/s41598-022-10715-w
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- Article
Mild developmental delay and obesity in two patients with mosaic 1p36 deletion syndrome.
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- American Journal of Medical Genetics. Part A, 2014, v. 164A, n. 2, p. 415, doi. 10.1002/ajmg.a.36304
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- Article
Microdeletions of 3p21.31 characterized by developmental delay, distinctive features, elevated serum creatine kinase levels, and white matter involvement.
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- American Journal of Medical Genetics. Part A, 2013, v. 161A, n. 12, p. 3049, doi. 10.1002/ajmg.a.36156
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- Article
Microdeletions of 5.5 Mb (4q13.2-q13.3) and 4.1 Mb (7p15.3-p21.1) associated with a saethre-chotzen-like phenotype, severe intellectual disability, and autism.
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- American Journal of Medical Genetics. Part A, 2013, v. 161A, n. 8, p. 2078, doi. 10.1002/ajmg.a.36027
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- Article
Clinical manifestations of Xq28 functional disomy involving MECP2 in one female and two male patients.
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- American Journal of Medical Genetics. Part A, 2013, v. 161A, n. 7, p. 1779, doi. 10.1002/ajmg.a.35975
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- Publication type:
- Article
A cryptic microdeletion including MBD5 occurring within the breakpoint of a reciprocal translocation between chromosomes 2 and 5 in a patient with developmental delay and obesity.
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- American Journal of Medical Genetics. Part A, 2013, v. 161A, n. 4, p. 850, doi. 10.1002/ajmg.a.35768
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- Publication type:
- Article
Systematic review of the screening, diagnosis, and management of ADHD in children with epilepsy. Consensus paper of the Task Force on Comorbidities of the ILAE Pediatric Commission.
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- Epilepsia (Series 4), 2018, v. 59, n. 10, p. 1867, doi. 10.1111/epi.14549
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- Article
CDKL5 alterations lead to early epileptic encephalopathy in both genders.
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- Epilepsia (Series 4), 2011, v. 52, n. 10, p. 1835, doi. 10.1111/j.1528-1167.2011.03174.x
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- Publication type:
- Article
Retrospective multiinstitutional study of the prevalence of early death in Dravet syndrome.
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- Epilepsia (Series 4), 2011, v. 52, n. 6, p. 1144, doi. 10.1111/j.1528-1167.2011.03053.x
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- Article
Mortality in Dravet syndrome: Search for risk factors in Japanese patients.
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- Epilepsia (Series 4), 2011, v. 52, p. 50, doi. 10.1111/j.1528-1167.2011.03002.x
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- Publication type:
- Article
STXBP1 mutations cause not only Ohtahara syndrome but also West syndrome-Result of Japanese cohort study.
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- Epilepsia (Series 4), 2010, v. 51, n. 12, p. 2449, doi. 10.1111/j.1528-1167.2010.02767.x
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- Publication type:
- Article
Differentiation of myoclonic seizures in epileptic syndromes: A video-polygraphic study of 26 patients.
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- Epilepsia (Series 4), 2009, v. 50, n. 6, p. 1525, doi. 10.1111/j.1528-1167.2008.01859.x
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- Publication type:
- Article
Atomoxetine improves communication in a girl with semantic-pragmatic disorder.
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- Pediatrics International, 2012, v. 54, n. 4, p. 546, doi. 10.1111/j.1442-200X.2012.03581.x
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- Publication type:
- Article
Blood concentrations of midazolam in status epilepticus using an appropriate condition of HPLC.
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- Pediatrics International, 2010, v. 52, n. 4, p. 513, doi. 10.1111/j.1442-200X.2009.03013.x
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- Article
Familial antiphospholipid antibody in a child with involuntary movement and deterioration.
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- Pediatrics International, 2007, v. 49, n. 2, p. 238, doi. 10.1111/j.1442-200X.2007.02346.x
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- Article
Creatine monohydrate therapy in a Leigh syndrome patient with A8344G mutation.
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- Pediatrics International, 2006, v. 48, n. 4, p. 409, doi. 10.1111/j.1442-200X.2006.02231.x
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- Publication type:
- Article
Effect of medical treatments on psychiatric symptoms in children with anorexia nervosa.
- Published in:
- Pediatrics International, 2005, v. 47, n. 3, p. 326, doi. 10.1111/j.1442-200x.2005.02072.x
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- Publication type:
- Article