Published in J Pediatr on August 01, 2001
Childhood onset of stiff-man syndrome. JAMA Neurol (2013) 1.03
Stiff person syndrome (SPS), a basal ganglia disease? Striatal MRI lesions in a patient with SPS. J Neurol Neurosurg Psychiatry (2007) 0.75
QUANTITATIVE CHEMICAL STUDIES ON COMPLEMENT OR ALEXIN : IV. ADDITION OF HUMAN COMPLEMENT TO SPECIFIC PRECIPITATES. J Exp Med (1942) 5.34
Synthesis and cytotoxicity of gossypol related compounds. Eur J Med Chem (2000) 4.25
Prophylaxis of postoperative relapse in Crohn's disease with mesalamine: European Cooperative Crohn's Disease Study VI. Gastroenterology (2000) 3.46
Elevated serum aminotransferase activity as an early manifestation of gluten-sensitive enteropathy. J Pediatr (1993) 2.88
The phenotypic spectrum of CADASIL: clinical findings in 102 cases. Ann Neurol (1998) 2.72
A prognostic index for thyroid carcinoma. A study of the E.O.R.T.C. Thyroid Cancer Cooperative Group. Eur J Cancer (1979) 2.67
A QUANTITATIVE THEORY OF THE PRECIPITIN REACTION : VII. THE EGG ALBUMIN-ANTIBODY REACTION IN ANTISERA FROM THE RABBIT AND HORSE. J Exp Med (1940) 2.53
Factors associated with glycemic control. A cross-sectional nationwide study in 2,579 French children with type 1 diabetes. The French Pediatric Diabetes Group. Diabetes Care (1998) 2.23
Blindness after reduction of facial fractures. Plast Reconstr Surg (1998) 2.08
Oral insulin administration and residual beta-cell function in recent-onset type 1 diabetes: a multicentre randomised controlled trial. Diabète Insuline Orale group. Lancet (2000) 2.07
Herpes simplex encephalitis relapses in children: differentiation of two neurologic entities. Neurology (2003) 2.03
Repair of demyelinated lesions by transplantation of purified O-2A progenitor cells. Nature (1993) 2.00
Bilateral porencephalic defect in a newborn after injection of benzol during pregnancy. Brain Dev (1991) 1.98
Duchenne muscular dystrophy (DMD) in a female with an X/autosome translocation: further evidence that the DMD locus is at Xp21. Am J Hum Genet (1981) 1.97
1st International consensus guidelines for advanced breast cancer (ABC 1). Breast (2012) 1.96
QUANTITATIVE CHEMICAL STUDIES ON COMPLEMENT OR ALEXIN : III. UPTAKE OF COMPLEMENT NITROGEN UNDER VARYING EXPERIMENTAL CONDITIONS. J Exp Med (1941) 1.94
X-linked mental retardation: a study of 7 families. Am J Med Genet (1980) 1.93
Kearns-Sayre syndrome with muscle mitochondrial DNA deletion. Lancet (1988) 1.93
Conditional and specific NF-kappaB blockade protects pancreatic beta cells from diabetogenic agents. Proc Natl Acad Sci U S A (2006) 1.85
Leydig-cell tumors caused by an activating mutation of the gene encoding the luteinizing hormone receptor. N Engl J Med (1999) 1.83
Long-term results of growth hormone treatment in France in children of short stature: population, register based study. BMJ (1997) 1.81
CNS involvement at the onset of primary hemophagocytic lymphohistiocytosis. Neurology (2012) 1.80
Nuclear envelope alterations in fibroblasts from patients with muscular dystrophy, cardiomyopathy, and partial lipodystrophy carrying lamin A/C gene mutations. Muscle Nerve (2004) 1.73
A FURTHER STUDY OF THE CROSS REACTION BETWEEN THE SPECIFIC POLYSACCHARIDES OF TYPES III AND VIII PNEUMOCOCCI IN HORSE ANTISERA. J Exp Med (1942) 1.70
Heterogeneity in the mutations responsible for X chromosome-linked Kallmann syndrome. Hum Mol Genet (1993) 1.67
Intrathecal synthesis of interferon-alpha in infants with progressive familial encephalopathy. J Neurol Sci (1988) 1.67
Novel mutations in the thiazide-sensitive NaCl cotransporter gene in patients with Gitelman syndrome with predominant localization to the C-terminal domain. Kidney Int (1998) 1.66
Compliance to a gluten-free diet in adolescents, or "what do 300 coeliac adolescents eat every day?". Ital J Gastroenterol Hepatol (1997) 1.58
Limited duration of remission of insulin dependency in children with recent overt type I diabetes treated with low-dose cyclosporin. Diabetes (1990) 1.57
Acrocentric chromosome associations in man. Am J Hum Genet (1976) 1.53
In siblings of celiac children, rectal gluten challenge reveals gluten sensitization not restricted to celiac HLA. Gastroenterology (1996) 1.52
Electroencephalographic aspects of hemimegalencephaly. Dev Med Child Neurol (1989) 1.51
Treatment of cluster headache with topiramate: effects and side-effects in five patients. Cephalalgia (2002) 1.51
[EOS stereo-radiography system: whole-body simultaneous anteroposterior and lateral radiographs with very low radiation dose]. Rev Chir Orthop Reparatrice Appar Mot (2007) 1.50
Randomised clinical trial: symptoms of the irritable bowel syndrome are improved by a psycho-education group intervention. Aliment Pharmacol Ther (2012) 1.47
Factors associated with early remission of type I diabetes in children treated with cyclosporine. N Engl J Med (1988) 1.47
Etiology and response to antibiotic therapy of community-acquired pneumonia in French children. Eur J Clin Microbiol Infect Dis (1997) 1.46
Molecular oxygen and the state of geometric isomerism of intermediates are essential in the carotene desaturation and cyclization reactions in daffodil chromoplasts. Eur J Biochem (1989) 1.46
doublecortin is the major gene causing X-linked subcortical laminar heterotopia (SCLH). Hum Mol Genet (1998) 1.44
A case of mitochondrial encephalomyopathy associated with a muscle coenzyme Q10 deficiency. J Neurol Sci (1998) 1.43
Autosomal-recessive forms of demyelinating Charcot-Marie-Tooth disease. Neuromolecular Med (2006) 1.42
Dysregulation of the hypothalamic-pituitary-adrenal (HPA) axis in irritable bowel syndrome. Neurogastroenterol Motil (2008) 1.41
Reversal of early neurologic and neuroradiologic manifestations of X-linked adrenoleukodystrophy by bone marrow transplantation. N Engl J Med (1990) 1.41
Does etomidate cause haemolysis? Br J Anaesth (1992) 1.40
[Children tuberculosis after familial contamination: experience in general pediatrics]. Arch Pediatr (2006) 1.39
Fine mapping of de novo CMT1A and HNPP rearrangements within CMT1A-REPs evidences two distinct sex-dependent mechanisms and candidate sequences involved in recombination. Hum Mol Genet (1998) 1.38
Diagnosis of Cushing's disease in children: a challenge for the radiologist. Pediatr Radiol (1994) 1.38
More on interference of N-acetylcysteine in measurement of acetaminophen. Clin Chem (1998) 1.37
Intrathecal synthesis of different alpha-interferons in patients with various neurological diseases. Acta Neurol Scand (1985) 1.34
A molecular and immunochemical characterization of mouse CR2. Evidence for a single gene model of mouse complement receptors 1 and 2. J Immunol (1990) 1.32
More on marker X chromosomes, mental retardation and macro-orchidism. N Engl J Med (1979) 1.30
Infantile Alexander disease: spectrum of GFAP mutations and genotype-phenotype correlation. Am J Hum Genet (2001) 1.30
Accessibility of receptor-bound urokinase to type-1 plasminogen activator inhibitor. Proc Natl Acad Sci U S A (1989) 1.29
Detection of measles virus RNA in lymphocytes from peripheral-blood and brain perivascular infiltrates of patients with subacute sclerosing panencephalitis. N Engl J Med (1985) 1.29
The MetaFam Server: a comprehensive protein family resource. Nucleic Acids Res (2001) 1.29
The right brain hemisphere is dominant in human infants. Brain (1997) 1.27
Inversions and other unusual heteromorphisms detected by C-banding. Hum Genet (1978) 1.24
Procalcitonin in children admitted to hospital with community acquired pneumonia. Arch Dis Child (2001) 1.23
Band heterotopia: correlation of outcome with magnetic resonance imaging parameters. Ann Neurol (1994) 1.22
Myoclonus-dystonia: clinical and electrophysiologic pattern related to SGCE mutations. Neurology (2008) 1.21
Primary adhalinopathy (alpha-sarcoglycanopathy): clinical, pathologic, and genetic correlation in 20 patients with autosomal recessive muscular dystrophy. Neurology (1997) 1.21
Interaction of plasminogen activator inhibitor (PAI-1) with vitronectin. J Biol Chem (1989) 1.20
Analysis of Epstein-Barr virus-binding sites on complement receptor 2 (CR2/CD21) using human-mouse chimeras and peptides. At least two distinct sites are necessary for ligand-receptor interaction. J Biol Chem (1991) 1.19
A cytogenetic survey of an institution for the mentally retarded: I. Chromosome abnormalities. Clin Genet (1978) 1.18
Four families with loss of function mutations of the thyrotropin receptor. J Clin Endocrinol Metab (1996) 1.17
Diffuse cortical dysplasia, or the 'double cortex' syndrome: the clinical and epileptic spectrum in 10 patients. Neurology (1991) 1.15
What comprises a good outcome in spinal surgery? A preliminary survey among spine surgeons of the SSE and European spine patients. Eur Spine J (2007) 1.15
In vitro activities of A-gliadin-related synthetic peptides: damaging effect on the atrophic coeliac mucosa and activation of mucosal immune response in the treated coeliac mucosa. Scand J Gastroenterol (1996) 1.14
Porcine reproductive and respiratory syndrome virus productively infects monocyte-derived dendritic cells and compromises their antigen-presenting ability. Arch Virol (2006) 1.14
Mapping of heteroplasmic mitochondrial DNA deletions in Kearns-Sayre syndrome. Nucleic Acids Res (1989) 1.13
Early intrathecal synthesis of interferon in herpes encephalitis. Biomedicine (1979) 1.12
Expression of the marker (X) (q28) in lymphoblastoid cell lines. Am J Hum Genet (1982) 1.11
Highly reactive anti-myelin oligodendrocyte glycoprotein antibodies differentiate demyelinating diseases from viral encephalitis in children. Mult Scler (2010) 1.11
Latent and potential coeliac disease. Acta Paediatr Suppl (1996) 1.11
Case control study on nutritional risk factors in celiac disease. J Pediatr Gastroenterol Nutr (1988) 1.10
Pulsatile growth pattern during catch-up growth in childhood coeliac disease. Acta Paediatr (1994) 1.10
[Organ doses from CT examinations in children]. J Radiol (2005) 1.10
Hemimegalencephaly: MR imaging in five children. Radiology (1987) 1.09
Innovative methods to assess upper limb strength and function in non-ambulant Duchenne patients. Neuromuscul Disord (2012) 1.09
Increases in steroid binding globulins induced by tamoxifen in patients with carcinoma of the breast. J Endocrinol (1978) 1.09
Intralesional Ethibloc injections in primary aneurysmal bone cysts: an efficient and safe treatment. Skeletal Radiol (2003) 1.08
Neuropsychiatric aspects of tuberous sclerosis. Ann N Y Acad Sci (1991) 1.08
Impairment of lung diffusion capacity in Schönlein-Henoch purpura. J Pediatr (1992) 1.07
Direct Ethibloc injection in benign bone cysts: preliminary report on four patients. Skeletal Radiol (1993) 1.07
Minor tibial duplication: a new cause of congenital bowing of the tibia. Pediatr Radiol (1991) 1.06
Reappraisal of Rasmussen's syndrome with special emphasis on treatment with high doses of steroids. J Neurol Neurosurg Psychiatry (1994) 1.06
Localization of the Schwartz-Jampel syndrome (SJS) locus to chromosome 1p34-p36.1 by homozygosity mapping. Hum Mol Genet (1995) 1.05
Molecular and functional aspects of anionic channels activated during regulatory volume decrease in mammalian cells. Pflugers Arch (2002) 1.04
Marker X syndrome in an oriental family with probable transmission by a normal male. Am J Med Genet (1982) 1.04
Parasuicide online: Can suicide websites trigger suicidal behaviour in predisposed adolescents? Nord J Psychiatry (2004) 1.04
Different mechanisms inferred from sequences of human mitochondrial DNA deletions in ocular myopathies. Nucleic Acids Res (1991) 1.03
Aging and aneuploidy: evidence for the preferential involvement of the inactive X chromosome. Cytogenet Cell Genet (1985) 1.03
Zinc transporter (ZnT)8(186-194) is an immunodominant CD8+ T cell epitope in HLA-A2+ type 1 diabetic patients. Diabetologia (2012) 1.03
Lack of effect of GnRH agonists on final height in girls with advanced puberty: a randomized long-term pilot study. J Clin Endocrinol Metab (1999) 1.02
Structure and mitotic stability of minichromosomes originating in yeast cells transformed with tandem dimers of CEN11 plasmids. Mol Gen Genet (1984) 1.02
Neurotransmitters of the sympathetic nerve terminal are powerful chemoattractants for monocytes. J Leukoc Biol (2000) 1.00
Endomysial antibodies as unreliable markers for slight dietary transgressions in adolescents with celiac disease. J Pediatr Gastroenterol Nutr (1995) 1.00
Accelerated myelination in early Sturge-Weber syndrome: MRI-SPECT correlations. Pediatr Radiol (1996) 0.99
Unchanging clinical picture of coeliac disease presentation in Campania, Italy. Eur J Pediatr (1989) 0.99
Anti-müllerian hormone and testosterone serum levels are inversely during normal and precocious pubertal development. J Clin Endocrinol Metab (1993) 0.99