Sequential neuroradiological and neurophysiological studies in a Japanese girl with merosin-deficient congenital muscular dystrophy
スポンサーリンク
概要
- 論文の詳細を見る
- 2011-02-01
著者
-
Ohno K
Division Of Child Neurology Institute Of Neurological Sciences Faculty Of Medicine Tottori Universit
-
Ohno Kousaku
Division Of Child Neurology Faculty Of Medicine Tottori University
-
Maegaki Yoshihiro
Division Of Child Neurology Institute Of Neurological Sciences Faculty Of Medicine Tottori Universit
-
Ono Kimiyo
Second Department Of Surgery Faculty Of Medicine Tottori University
-
Fukuda Chisako
Department Of Pathological Science And Technology School Of Health Science Faculty Of Medicine Totto
-
Fukuda Chisako
Department Of Orthopaedic Surgery Tenri Hospital
-
Sugiura Chitose
Divisions Of Child Neurology Institute Of Neurological Sciences Faculty Of Medicine Tottori Universi
-
Ohno Kousaku
Division Of Child Neurology Institute Of Neurological Sciences Faculty Of Medicine Tottori Universit
-
Fujii Yuji
Division Of Child Neurology Department Of Brain And Neurosciences Faculty Of Medicine Tottori Univer
-
Sugiura Chitose
Division Of Child Neurology Department Of Brain And Neurosciences Faculty Of Medicine Tottori Univer
-
Ohno Kousaku
Division Of Child Neurology Department Of Brain And Neurosciences Faculty Of Medicine Tottori Univer
-
Ohno Kousaku
Division Of Child Neurology Department Of Brain And Neurosciences Faculty Of Medicine Tottori University
-
Maegaki Yoshihiro
Division Of Child Neurology Department Of Brain And Neurosciences Faculty Of Medicine Tottori University
-
Fukuda Chisako
Department Of Pathobiological Science And Technology Faculty Of Medicine Tottori University
-
MAEGAKI Yoshihiro
Division of Child Neurology, Department of Brain and Neurosciences, Faculty of Medicine, Tottori University
関連論文
- Frontal behavioral syndromes in Prader-Willi syndrome
- A novel POMT2 mutation causes mild congenital muscular dystrophy with normal brain MRI
- Underlying neurologic disorders and recurrence rates of status epilepticus in childhood
- Accumulation of cholesterol and G_ ganglioside in cells cultured in the presence of progesterone:an implication for the basic defect in Niemann-Pick disease typc C
- Increased levels of GM_2 ganglioside in fibroblasts from a patient with juvenile Niemann - Pick disease type C
- Lower brainstem dysfunction in an infant with persistent primitive trigeminal artery
- Mental retardation, spasticity, basal ganglia calcification, cerebral white matter lesions, multiple endocrine defects, telangiectasia and atrophic skin : A new syndrome?
- Galactonojirimycin derivatives restore mutant human β-galactosidase activities expressed in fibroblasts from enzyme-deficient knockout mouse
- Antisense suppression of TSC1 gene product, hamartin, enhances neurite outgrowth in NGF-treated PC12h cells
- Increased NPC1 mRNA in skin fibroblasts from Niemann-Pick disease type C patients
- Structural basis of the GM2 gangliosidosis B variant
- Novel TSC1 and TSC2 mutations in Japanese patients with tuberous sclerosis complex
- Progressive neuronal loss in the ventral posterior lateral and medial nuclei of thalamus in Niemann-Pick disease type C mouse brain
- Isolation of NPC1-Deficient Chinese Hamster Ovary Cell Mutants by Gene Trap Mutagenesis^1
- Fibrillin gene (FBN1) mutations in Japanese patients with Marfan syndrome
- Disappearance of frontal N30 component of median nerve stimulated SSEPs in two young children with abnormal striatal lesions
- Topographic MN-SSEPs (N18, N20 and N30) might characterize underlying CNS involvements in representative types of cerebral palsy
- Intracraninal calcifications, epilepsy, and optic atrophy associated with metaphyseal dysplasia: a case report
- Sensorineural deafness in siblings with adenosine deaminase deficiency
- Molecular and structural studies of the GM2 gangliosidosis O variant
- A Cell Line Derived from Sphingomyelinosis Mouse Shows Alterations in Intracellular Cholesterol Metabolism Similar to Those in Type C Niemann-Pick Disease
- Associated factors in neonatal hypoglycemic brain injury
- Late-onset, unusual neurological symptoms in children with mycoplasma infection
- Acute encephalitis with refractory, repetitive partial seizures (AERRPS)
- Bilateral middle cerebral artery infarctions following mild varicella infection : A case report
- Transient encephalopathy with reversible white matter lesions : A case report
- Laminar cortical necrosis in adrenal crisis : Sequential changes on MRI
- Congenital ocular motor apraxia : Clinical and neuroradiological findings, and long-term intellectual prognosis
- A patient with simplified gyral pattern followed by progressive brain atrophy
- Facioscapulohumeral muscular dystrophy with severe mental retardation and epilepsy
- Delayed neuropsychiatric syndrome in a child following carbon monoxide poisoning
- Acute encephalitis with refractory, repetitive partial seizures : Case reports of this unusual post-encephalitic epilepsy
- Forced mouth opening reaction : A primitive reflex released from cortical inhibition
- Protective Effect of Neurotropin Against Lipopolysaccharide-Induced Hypotension and Lethality Linked to Suppression of Inducible Nitric Oxide Synthase Induction
- Early onset West syndrome with cerebral hypomyelination and reduced cerebral white matter
- Frequency of the Prader-Willi syndrome in the San-in district, Japan
- Cellular senescence of angiofibroma stroma cells from patients with tuberous sclerosis
- Carbohydrate-deficient glycoprotein syndrome : electrophoretic study of multiple serum glycoproteins
- Familial limb pain in childhood : Unusual manifestation of migraine?
- Permanent Cardiac Pacing Following Surgery for Acquired Valvular Disease
- Pontine hypoplasia in a child with sensorineural deafiness
- Analysis of the circumstances of death of 56 children suffering from cancer : Proposal for the development of terminal medicine in Japan
- Mutational analysis of TSC1 and TSC2 genes in Japanese patients with tuberous sclerosis complex
- Induction of Apoptosis of Rat Neonatal Cardiomyocytes by Chemical Ischemia and Reoxygenation: The Role of Phosphatidylserine
- Apoptosis Involved in Density-dependent Regulation of Rat Fibroblastic 3Y1 CellCulture
- Non-radioactive DNA diagnosis for the fragile X syndrome in mentally retarded Japanese males
- MOLECULAR EPIDEMIOLOGY OF TUBEROUS SCLEROSIS
- Reappearance of visual and somatosensory evoked potentials in a patient with childhood adrenoleukodystrophy after bone marrow transplantation and dietary erucic acid therapy
- Re-evaluation of short latency somatosensory evoked potentials (P13, P14 and N18) for brainstem function in children who once suffered from deep coma
- Juxta-facet hematoma
- Altered Sensitivities to Potential Inhibitors of Cholesterol Biosynthesis in Niemann-Pick Type C Fibroblasts
- Outcome of acute necrotizing encephalopathy in relation to treatment with corticosteroids and gammaglobulin
- Down 症候群剖検1514例における良性および悪性腫瘍の検討
- Sequential neuroradiological and neurophysiological studies in a Japanese girl with merosin-deficient congenital muscular dystrophy
- The effect of N-octyl-β-valienamine on β-glucosidase activity in tissues of normal mice
- A functional analysis of GABARAP on 17p13.1 by knockdown zebrafish
- Kunihiko Suzuki and sphingolipidoses