Detalhe da pesquisa
1.
Intrathecal IgM synthesis in pediatric MS is not a negative prognostic marker of disease progression: quantitative versus qualitative IgM analysis.
Mult Scler
; 17(3): 327-34, 2011 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-21123302
2.
Paediatric and adult multiple sclerosis: age-related differences and time course of the neuroimmunological response in cerebrospinal fluid.
Mult Scler
; 15(12): 1466-80, 2009 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-19995844
3.
Proton MRS of a child with Sandhoff disease reveals elevated brain hexosamine.
Eur J Paediatr Neurol
; 12(1): 56-60, 2008 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-17625939
4.
Chronic relapsing opsoclonus-myoclonus syndrome: combination of cyclophosphamide and dexamethasone pulses.
Eur J Paediatr Neurol
; 12(1): 51-5, 2008 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-17625938
5.
Mutation spectrum in patients with Rett syndrome in the German population: Evidence of hot spot regions.
Hum Mutat
; 17(3): 183-90, 2001 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-11241840
6.
The syndrome of autosomal recessive pontocerebellar hypoplasia, microcephaly, and extrapyramidal dyskinesia (pontocerebellar hypoplasia type 2): compiled data from 10 pedigrees.
Neurology
; 45(2): 311-7, 1995 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-7854532
7.
Glutaryl-coenzyme A dehydrogenase deficiency: a distinct encephalopathy.
Pediatrics
; 88(6): 1194-203, 1991 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-1956737
8.
Hyperphagia in children with craniopharyngioma is associated with hyperleptinaemia and a failure in the downregulation of appetite.
Eur J Endocrinol
; 138(1): 89-91, 1998 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-9461323
9.
Variability of endocrinological dysfunction in 55 patients with X-linked adrenoleucodystrophy: clinical, laboratory and genetic findings.
Eur J Endocrinol
; 137(1): 40-7, 1997 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-9242200
10.
Guanidino compounds in guanidinoacetate methyltransferase deficiency, a new inborn error of creatine synthesis.
Metabolism
; 46(10): 1189-93, 1997 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-9322805
11.
Aminophylline modulation of the mouse respiratory network changes during postnatal maturation.
J Appl Physiol (1985)
; 89(5): 2015-22, 2000 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-11053357
12.
Not-so-simple minds.
Science
; 289(5486): 1878, 2000 Sep 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-11012358
13.
Alterations of brain metabolites in metachromatic leukodystrophy as detected by localized proton magnetic resonance spectroscopy in vivo.
J Neurol
; 241(2): 68-74, 1993 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-7908027
14.
Escalating immunotherapy of multiple sclerosis--new aspects and practical application.
J Neurol
; 251(11): 1329-39, 2004 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-15592728
15.
Oligoclonal gamma-globulin banding of cerebrospinal fluid in patients with subacute sclerosing panencephalitis. Comparison of the electrophoretic pattern with that in multiple sclerosis and congenital infections.
J Neurol Sci
; 32(3): 395-409, 1977 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-69683
16.
Pyruvate dehydrogenase complex deficiency and altered respiratory chain function in a patient with Kearns-Sayre/MELAS overlap syndrome and A3243G mtDNA mutation.
J Neurol Sci
; 157(2): 206-13, 1998 May 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-9619647
17.
Filamin C accumulation is a strong but nonspecific immunohistochemical marker of core formation in muscle.
J Neurol Sci
; 206(1): 71-8, 2003 Jan 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-12480088
18.
Succinic semialdehyde dehydrogenase deficiency: an inborn error of gamma-aminobutyric acid metabolism.
Clin Chim Acta
; 133(1): 33-42, 1983 Sep 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-6627675
19.
Aromatic L-amino acid decarboxylase deficiency: an extrapyramidal movement disorder with oculogyric crises.
Eur J Paediatr Neurol
; 1(2-3): 67-71, 1997.
Artigo
em Inglês
| MEDLINE | ID: mdl-10728198
20.
Anoxic ATP depletion in neonatal mice brainstem is prevented by creatine supplementation.
Arch Dis Child Fetal Neonatal Ed
; 82(3): F224-7, 2000 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-10794791