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1.
Time course of serum neuron-specific enolase levels from infancy to early adulthood in a female patient with beta-propeller protein-associated neurodegeneration.
Am J Med Genet A
; 191(5): 1384-1387, 2023 05.
Article
in English
| MEDLINE | ID: mdl-36750760
2.
Loss-of-function and gain-of-function mutations in PPP3CA cause two distinct disorders.
Hum Mol Genet
; 27(8): 1421-1433, 2018 04 15.
Article
in English
| MEDLINE | ID: mdl-29432562
3.
Early manifestations of BPAN in a pediatric patient.
Am J Med Genet A
; 164A(12): 3095-9, 2014 Dec.
Article
in English
| MEDLINE | ID: mdl-25263061
4.
[Successful treatment with intravenous steroid pulse therapy of a boy with recurrent idiopathic sixth nerve palsy].
No To Hattatsu
; 46(4): 287-9, 2014 Jul.
Article
in Japanese
| MEDLINE | ID: mdl-25154226
5.
[Evaluation of six cases with hypothalamic hamartoma: the relationship between MRI findings and clinical features].
No To Hattatsu
; 46(6): 419-23, 2014 Nov.
Article
in Japanese
| MEDLINE | ID: mdl-25558584
6.
Targeted capture and sequencing for detection of mutations causing early onset epileptic encephalopathy.
Epilepsia
; 54(7): 1262-9, 2013 Jul.
Article
in English
| MEDLINE | ID: mdl-23662938
7.
Decreased sialylation of IgA1 O-glycans associated with pneumococcal hemolytic uremic syndrome.
Pediatr Int
; 55(6): e143-5, 2013 Dec.
Article
in English
| MEDLINE | ID: mdl-24330298
8.
[Cyclophosphamide pulse therapy effective for childhood-onset refractory multiple sclerosis: a case report].
No To Hattatsu
; 45(1): 49-52, 2013 Jan.
Article
in Japanese
| MEDLINE | ID: mdl-23593746
9.
Newborn screening for spinal muscular atrophy in Osaka -challenges in a Japanese pilot study.
Brain Dev
; 45(7): 363-371, 2023 Aug.
Article
in English
| MEDLINE | ID: mdl-36973114
10.
[Effects of botulinum toxin therapy for respiratory distress in patients with cervical hypertonia].
No To Hattatsu
; 44(1): 13-8, 2012 Jan.
Article
in Japanese
| MEDLINE | ID: mdl-22352024
11.
Epilepsy in patients with advanced Fukuyama congenital muscular dystrophy.
Brain Dev
; 43(1): 106-110, 2021 Jan.
Article
in English
| MEDLINE | ID: mdl-32723526
12.
Early infancy-onset stimulation-induced myoclonic seizures in three siblings with inherited glycosylphosphatidylinositol (GPI) anchor deficiency.
Epileptic Disord
; 20(1): 42-50, 2018 Feb 01.
Article
in English
| MEDLINE | ID: mdl-29444765
13.
Characterization of the neurological diseases associated with Mycoplasma pneumoniae infection and anti-glycolipid antibodies.
J Neurol
; 264(3): 467-475, 2017 Mar.
Article
in English
| MEDLINE | ID: mdl-28025664
14.
Ictal 99mTc-Ethyl Cysteinate Dimer SPECT Findings of a Girl With Refractory Localization-Related Epilepsy Who Developed Transient Ictal Bradycardia.
Child Neurol Open
; 2(3): 2329048X15595818, 2015.
Article
in English
| MEDLINE | ID: mdl-28503592
15.
Benign neonatal sleep myoclonus: our experience of 15 Japanese cases.
Brain Dev
; 37(1): 71-5, 2015 Jan.
Article
in English
| MEDLINE | ID: mdl-24750849
16.
Predictive value of EEG findings at control of epileptic spasms for seizure relapse in patients with West syndrome.
Seizure
; 23(9): 703-7, 2014 Oct.
Article
in English
| MEDLINE | ID: mdl-24939523
17.
The babkin reflex in infants: clinical significance and neural mechanism.
Pediatr Neurol
; 49(3): 149-55, 2013 Sep.
Article
in English
| MEDLINE | ID: mdl-23953951
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