Detalhe da pesquisa
1.
The Wilson disease gene is a copper transporting ATPase with homology to the Menkes disease gene.
Nat Genet
; 5(4): 344-50, 1993 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-8298641
2.
High frequency of OPA1 mutations causing high ADOA prevalence in south-eastern Sicily, Italy.
Clin Genet
; 82(3): 277-82, 2012 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-21745197
3.
Acquired peripheral neuropathy: a report on 20 children.
Int J Immunopathol Pharmacol
; 25(2): 513-7, 2012.
Artigo
em Inglês
| MEDLINE | ID: mdl-22697084
4.
Primary headaches in children: clinical findings on the association with other conditions.
Int J Immunopathol Pharmacol
; 25(4): 1083-91, 2012.
Artigo
em Inglês
| MEDLINE | ID: mdl-23298498
5.
Krabbe leukodystrophy in a selected population with high rate of late onset forms: longer survival linked to c.121G>A (p.Gly41Ser) mutation.
Clin Genet
; 80(5): 452-8, 2011 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-21070211
6.
Neurological manifestations in individuals with pure cutaneous or syndromic (Ruggieri-Happle syndrome) phenotypes with "cutis tricolor": a study of 14 cases.
Neuropediatrics
; 41(2): 60-5, 2010 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-20799151
7.
Acute disseminated encephalomyelitis: a long-term prospective study and meta-analysis.
Neuropediatrics
; 41(6): 246-55, 2010 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-21445814
8.
Natural killer cell cytotoxicity is enhanced by very low doses of rIL-2 and rIFN-alpha in patients with renal cell carcinoma.
Med Oncol
; 26(1): 38-44, 2009.
Artigo
em Inglês
| MEDLINE | ID: mdl-18516705
9.
Temporal summation of the nociceptive withdrawal reflex involves deactivation of posterior cingulate cortex.
Eur J Pain
; 21(2): 289-301, 2017 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-27452295
10.
ENT Wegener's granulomatosis can hide severe central nervous system involvement.
Clin Rheumatol
; 24(3): 290-3, 2005 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-15940562
11.
[A 'lucky' patient]. / Un caso 'fortunato'
G Ital Nefrol
; 22(1): 63-5, 2005.
Artigo
em Italiano
| MEDLINE | ID: mdl-15786378
12.
Autism and celiac disease: failure to validate the hypothesis that a link might exist.
Biol Psychiatry
; 42(1): 72-5, 1997 Jul 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-9193744
13.
Multiple sclerosis in children under 6 years of age.
Neurology
; 53(3): 478-84, 1999 Aug 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-10449107
14.
Involvement of the white matter in hypomelanosis of Ito (incontinentia pigmenti achromiens).
Neurology
; 46(2): 485-92, 1996 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-8614519
15.
Epidermal nevus syndrome: a neurologic variant with hemimegalencephaly, gyral malformation, mental retardation, seizures, and facial hemihypertrophy.
Neurology
; 41(2 ( Pt 1)): 266-71, 1991 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-1992373
16.
Congenital muscular dystrophy with adducted thumbs, ptosis, external ophthalmoplegia, mental retardation and cerebellar hypoplasia: a novel form of CMD.
Neuromuscul Disord
; 12(7-8): 623-30, 2002 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-12207929
17.
Haemostatic studies in carbohydrate-deficient glycoprotein syndrome type I.
Thromb Haemost
; 76(4): 502-4, 1996 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-8902985
18.
B-cell acute lymphoblastic leukemia and isochromosome 7q.
Leuk Res
; 9(4): 497-9, 1985.
Artigo
em Inglês
| MEDLINE | ID: mdl-3873587
19.
Autosomal-recessive microcephaly in two siblings, one with normal IQ and both with protruding mandible, small ears, and curved nose.
Am J Med Genet
; 59(4): 421-5, 1995 Dec 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-8585559
20.
Pallister-Killian syndrome: case report with pineal tumor.
Am J Med Genet
; 95(1): 75-8, 2000 Nov 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-11074499