Detalhe da pesquisa
1.
Identification of small-sized intrachromosomal segments at the ends of INV-DUP-DEL patterns.
J Hum Genet
; 68(11): 751-757, 2023 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-37423943
2.
PARS2 and NARS2 mutations in infantile-onset neurodegenerative disorder.
J Hum Genet
; 62(5): 525-529, 2017 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-28077841
3.
Elevated Urinary Levels of 8-Hydroxy-2'-deoxyguanosine in a Japanese Child of Xeroderma Pigmentosum/Cockayne Syndrome Complex with Infantile Onset of Nephrotic Syndrome.
Tohoku J Exp Med
; 239(3): 231-5, 2016 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-27396511
4.
Recurrent SCN3A p.Ile875Thr variant in patients with polymicrogyria.
Ann Neurol
; 84(1): 159-161, 2018 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-29740860
5.
Monochorionic diamniotic twins without twin-twin transfusion syndrome: Severe brain damage in the larger infant.
Pediatr Int
; 61(9): 924-925, 2019 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-31512301
6.
Erratum: PARS2 and NARS2 mutations in infantile-onset neurodegenerative disorder.
J Hum Genet
; 62(5): 587, 2017 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-28202951
7.
A novel ZC4H2 gene mutation, K209N, in Japanese siblings with arthrogryposis multiplex congenita and intellectual disability: characterization of the K209N mutation and clinical findings.
Brain Dev
; 40(9): 760-767, 2018 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-29803542
8.
TRH therapy in a patient with juvenile Alexander disease.
Brain Dev
; 28(10): 663-7, 2006 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-16774812
9.
[Symptomatic hypersomnia due to orexin deficiency in hypothalamic lesions].
No To Hattatsu
; 38(5): 340-5, 2006 Sep.
Artigo
em Japonês
| MEDLINE | ID: mdl-16986734
10.
Periventricular calcification added to the phenotypic repertoire of Alexander disease.
Dev Med Child Neurol
; 52(12): 1081-2, 2010 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-21175465
11.
Leukoencephalopathy around a tumor cyst following intracystic methotrexate injection.
Pediatr Neurol
; 32(1): 68-71, 2005 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-15607610
12.
Juvenile Alexander disease with a novel mutation in glial fibrillary acidic protein gene.
Neurology
; 58(10): 1541-3, 2002 May 28.
Artigo
em Inglês
| MEDLINE | ID: mdl-12034796
13.
Hypocretin-1 (orexin-A) levels in human lumbar CSF in different age groups: infants to elderly persons.
Sleep
; 25(3): 337-9, 2002 May 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-12003164
14.
Asymptomatic hereditary Alexander's disease caused by a novel mutation in GFAP.
J Neurol Sci
; 225(1-2): 125-7, 2004 Oct 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-15465095
15.
Fluctuation of computed tomographic findings in white matter in Alexander's disease.
J Child Neurol
; 17(3): 227-30, 2002 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-12026242
16.
Abnormal white matter lesions with sensorineural hearing loss caused by congenital cytomegalovirus infection: retrospective diagnosis by PCR using Guthrie cards.
Brain Dev
; 24(7): 710-4, 2002 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-12427519
17.
Trial of intraventricular ribavirin therapy for subacute sclerosing panencephalitis in Japan.
Brain Dev
; 25(7): 514-7, 2003 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-13129596
18.
Alexander disease with mild dorsal brainstem atrophy and infantile spasms.
Brain Dev
; 35(5): 441-4, 2013 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-22818990
19.
A case of congenital axonal neuropathy associated with West syndrome.
Brain Dev
; 33(8): 692-6, 2011 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-21211919
20.
Siblings with the adult-onset slowly progressive type of pantothenate kinase-associated neurodegeneration and a novel mutation, Ile346Ser, in PANK2: clinical features and (99m)Tc-ECD brain perfusion SPECT findings.
J Neurol Sci
; 290(1-2): 172-6, 2010 Mar 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-20006850