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Isabella Ceccherini Selected Research

Alexander Disease (Alexander's Disease)

12/2021Alexander disease evolution over time: data from an Italian cohort of pediatric-onset patients.
1/2021Beneficial Effect of Phenytoin and Carbamazepine on GFAP Gene Expression and Mutant GFAP Folding in a Cellular Model of Alexander's Disease.
12/2020Alexander Disease Modeling in Zebrafish: An In Vivo System Suitable to Perform Drug Screening.
6/2013Magnetic resonance imaging "tigroid pattern" in Alexander disease.
1/2013Ceftriaxone for Alexander's Disease: A Four-Year Follow-Up.
9/2012Beneficial effects of curcumin on GFAP filament organization and down-regulation of GFAP expression in an in vitro model of Alexander disease.
6/2011The ocular motor features of adult-onset alexander disease: a case and review of the literature.
12/2010Correspondence regarding: Alexander disease mutant glial fibrillary acidic protein compromises glutamate transport in astrocytes.
8/2010In vitro treatments with ceftriaxone promote elimination of mutant glial fibrillary acidic protein and transcription down-regulation.
3/2010Ceftriaxone has a therapeutic role in Alexander disease.
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Isabella Ceccherini Research Topics

Disease

12Congenital central hypoventilation syndrome
01/2022 - 07/2005
12Alexander Disease (Alexander's Disease)
12/2021 - 01/2008
9Neuroblastoma
11/2021 - 03/2002
8Inflammation (Inflammations)
04/2021 - 02/2013
7Fever (Fevers)
01/2021 - 03/2005
5autosomal dominant familial Periodic fever
01/2021 - 03/2006
5Hirschsprung Disease (Hirschsprung's Disease)
01/2019 - 02/2007
4Neoplasms (Cancer)
11/2021 - 08/2015
4Cryopyrin-Associated Periodic Syndromes
01/2021 - 11/2009
4Hypercapnia
01/2017 - 09/2006
4Hypoxia (Hypoxemia)
01/2017 - 09/2006
3Autoimmune Lymphoproliferative Syndrome
01/2022 - 11/2021
3Agammaglobulinemia (Hypogammaglobulinemia)
10/2021 - 01/2017
2Arthritis (Polyarthritis)
11/2021 - 08/2019
2Stroke (Strokes)
01/2021 - 11/2020
2Mevalonate Kinase Deficiency
01/2021 - 11/2009
2Lymphadenitis (Adenitis)
01/2021 - 01/2017
2Familial Mediterranean Fever (Periodic Disease)
01/2021 - 11/2009
2Intestinal Pseudo-Obstruction (Intestinal Pseudoobstruction)
01/2021 - 01/2016
2Aphthous Stomatitis (Aphthous Ulcer)
01/2021 - 08/2019
2Inborn Genetic Diseases (Disease, Hereditary)
11/2020 - 04/2008
2Sudden Infant Death (SID)
01/2020 - 12/2008
2Breast Neoplasms (Breast Cancer)
01/2019 - 05/2016
2Dysarthria (Spastic Dysarthria)
01/2019 - 01/2013
2Hereditary Autoinflammatory Diseases
01/2018 - 11/2009
2Necrosis
10/2017 - 06/2013
2Astrocytoma (Pilocytic Astrocytoma)
05/2013 - 09/2012
1Carcinogenesis
03/2022
1Splenomegaly
01/2022
1Arthralgia (Joint Pain)
01/2022
1Immunoglobulin G4-Related Disease
01/2022
1Anemia
01/2022
1Cartilage-hair hypoplasia
01/2022
1Membranous Glomerulonephritis (Membranous Nephropathy)
01/2022
1Proteinuria
01/2022
1Bone Marrow Failure Disorders
01/2022
1Juvenile Arthritis (Juvenile Idiopathic Arthritis)
11/2021
1Autoimmune Hemolytic Anemia (Cold Agglutinin Disease)
11/2021
1Cytopenia
11/2021
1Reinfection
10/2021
1Lymphadenopathy
10/2021
1Enterocolitis
04/2021
1Infections
04/2021
1Seizures (Absence Seizure)
01/2021
1Sudden Death
01/2021
1Fanconi Anemia (Fanconi's Anemia)
01/2021
1Fibrosis (Cirrhosis)
01/2021
1Focal Segmental Glomerulosclerosis (Glomerulosclerosis, Focal)
01/2021
1Mitochondrial Diseases (Mitochondrial Disease)
01/2021
1Megacystis microcolon intestinal hypoperistalsis syndrome
01/2021
1Pyogenic arthritis, pyoderma gangrenosum, and acne
01/2021
1Blau syndrome
01/2021
1Pharyngitis (Sore Throat)
01/2021
1Uveitis
01/2021
1hyperzincemia and hypercalprotectinemia
01/2021

Drug/Important Bio-Agent (IBA)

11polyalanineIBA
01/2022 - 07/2005
10Proteins (Proteins, Gene)FDA Link
04/2021 - 03/2002
9Glial Fibrillary Acidic ProteinIBA
12/2021 - 01/2008
6SteroidsIBA
11/2021 - 05/2016
4Tumor Necrosis Factor-alpha (Tumor Necrosis Factor)IBA
06/2014 - 03/2006
3Transcription Factors (Transcription Factor)IBA
11/2021 - 01/2005
3Mycophenolic Acid (Cellcept)FDA LinkGeneric
11/2021 - 01/2017
3Pharmaceutical PreparationsIBA
01/2021 - 08/2015
3CytokinesIBA
01/2020 - 11/2010
3Hormones (Hormone)IBA
01/2019 - 11/2010
3Alanine (L-Alanine)FDA Link
01/2017 - 01/2007
3Ceftriaxone (Ceftriaxon)FDA LinkGeneric
01/2013 - 03/2010
2Sirolimus (Rapamycin)FDA Link
01/2022 - 11/2021
2AntibodiesIBA
01/2022 - 02/2013
2Adenosine DeaminaseIBA
01/2021 - 10/2017
23' Untranslated Regions (3' UTR)IBA
01/2021 - 02/2007
2ColchicineFDA LinkGeneric
01/2020 - 01/2020
2Estrogen ReceptorsIBA
01/2019 - 05/2016
2Biological ProductsIBA
01/2018 - 01/2017
2Mutant Proteins (Protein, Mutant)IBA
06/2014 - 06/2013
2Neuroprotective AgentsIBA
09/2012 - 08/2010
2Glial Cell Line-Derived Neurotrophic Factor (GDNF)IBA
03/2009 - 03/2002
1RNA (Ribonucleic Acid)IBA
03/2022
1Immunoglobulin G (IgG)IBA
01/2022
12,6-dinitrotoluene (DNT)IBA
01/2022
1MicroRNAs (MicroRNA)IBA
11/2021
1T-Cell Antigen Receptors (T-Cell Receptor)IBA
11/2021
1Abatacept (Orencia)FDA Link
11/2021
1Intravenous Immunoglobulins (IVIG)FDA Link
10/2021
1Oncostatin M Receptors (Oncostatin M Receptor)IBA
04/2021
1Deficiency of interleukin-1 receptor antagonistIBA
01/2021
1Adalimumab (Humira)FDA Link
01/2021
1Mitochondrial DNA (mtDNA)IBA
01/2021
1Carbamazepine (Tegretol)FDA LinkGeneric
01/2021
1Clomipramine (Anafranil)FDA LinkGeneric
01/2021
1ElastinIBA
01/2021
1diepoxybutaneIBA
01/2021
1Anticonvulsants (Antiepileptic Drugs)IBA
01/2021
1InflammasomesIBA
01/2021
1Tacrolimus (Prograf)FDA LinkGeneric
01/2021
1Phenytoin (Dilantin)FDA LinkGeneric
01/2021
1Phosphoprotein Phosphatases (Phosphatases, Protein)IBA
01/2021
1Proline (L-Proline)FDA Link
01/2021

Therapy/Procedure

7Therapeutics
11/2021 - 01/2013
1Bone Marrow Transplantation (Transplantation, Bone Marrow)
01/2022