Frequency of the Prader-Willi syndrome in the San-in district, Japan
スポンサーリンク
概要
- 論文の詳細を見る
- 1995-09-11
著者
-
OHNO Kousaku
Division of Child Neurology, Faculty of Medicine, Tottori University
-
TAKESHITA Kenzo
Division of Child Neurology, Institute of Neurological Sciences, Faculty of Medicine, Tottori Univer
-
Ohno Kousaku
Division Of Child Neurology Institute Of Neurological Sciences Faculty Of Medicine Tottori Universit
-
Ohno Kousaku
Division Of Child Neurology Faculty Of Medicine Tottori University
-
Takeshita Kenzo
鳥取大学学内共同教育研究施設遺伝子実験施設
-
Takeshita Kenzo
Division Of Child Neurological Institute Of Neurology Sciences Faculty Of Medicine Tottori Universit
-
EHARA Hiroaki
Division of Child Neurology, Institute of Neurological Sciences, Tottori University School of Medici
-
Ehara Hiroaki
Division Of Child Neurology Institute Of Neurological Sciences Faculty Of Medicine Tottori Universit
-
Ehara Hiroaki
Division Of Child Neurology Institute Of Neurological Sciences Tottori University School Of Medicine
-
Ohno Kousaku
Division Of Child Neurology Department Of Brain And Neurosciences Faculty Of Medicine Tottori Univer
関連論文
- Frontal behavioral syndromes in Prader-Willi syndrome
- Diagnosis of Japanese patients with HHH syndrome by molecular genetic analysis : a common mutation, R179X
- A novel POMT2 mutation causes mild congenital muscular dystrophy with normal brain MRI
- Peroxisomal bifunctional enzyme deficiency: serial neurophysiological examinations of a case
- Underlying neurologic disorders and recurrence rates of status epilepticus in childhood
- 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
- Novel TSC1 and TSC2 mutations in Japanese patients with tuberous sclerosis complex
- 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
- Intracraninal calcifications, epilepsy, and optic atrophy associated with metaphyseal dysplasia: a case report
- Sensorineural deafness in siblings with adenosine deaminase deficiency
- 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
- IgA and IgG2 Deficiency Associated with Zonisamide Therapy: A Case Report
- A functional magnetic resonance imaging study during sentence reading in Japanese dyslexic children
- Molecular epidemiology of C9 deficiency heterozygotes with an Arg95Stop mutation of the C9 gene in Japan
- Early onset West syndrome with cerebral hypomyelination and reduced cerebral white matter
- Prenatal diagnosis of congenital myotonic dystrophy in two Japanese families: direct mutation analysis by a non-radioisotope PCR method and haplotype analysis with flanking DNA markers
- Cognitive and neurophysiological evaluation of Japanese dyslexia
- Frequency of the Prader-Willi syndrome in the San-in district, Japan
- Cellular senescence of angiofibroma stroma cells from patients with tuberous sclerosis
- Case of a mentally retarded child with non-24 hour sleep-wake syndrome caused by deficiency of melatonin secretion
- Slowly progressive cystic leukoencephalopathy with megalencephaly in a Japanese boy
- 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
- Schizencephaly in triple-X syndrome
- Mutational analysis of TSC1 and TSC2 genes in Japanese patients with tuberous sclerosis complex
- Unilateral occlusion of the middle cerebral artery after varicella-zoster virus infection
- A patient with cerebral palsy whose mother had a traffic accident during pregnancy : a diffuse axonal injury?
- Non-radioactive DNA diagnosis for the fragile X syndrome in mentally retarded Japanese males
- Altered Sensitivities to Potential Inhibitors of Cholesterol Biosynthesis in Niemann-Pick Type C Fibroblasts
- A case report of remarkable improvement of motor disturbances with _L-dopa in a patient with post-diffuse axonal injury
- Bilateral opercular syndrome: an unusyal complication of perinatal difficulties
- 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
- Kunihiko Suzuki and sphingolipidoses