COQ2 Nephropathy

Francesca Diomedi‐Camassei, Silvia Di Giandomenico, Filippo M. Santorelli, +11

Journal of the American Society of Nephrology

Glomerular DiseaseGlomerulonephritisUrologyRenal DiseaseRenal Function +11

SUCLA2 mutations are associated with mild methylmalonic aciduria, Leigh-like encephalomyopathy, dystonia and deafness

Rosalba Carrozzo, Carlo Dionisi‐Vici, Ulrike Steuerwald, +16

Brain

GeneticsPathologyMolecular BiologyMolecular GeneticsDisease Gene Identification +18

Mode of action of trabectedin in myxoid liposarcomas

Silvia Di Giandomenico, Roberta Frapolli, Ezia Bello, +17

Oncogene

Surgical PathologyHistopathologyPathologyTrabecular MeshworkMedicine +2

Ataxia with oculomotor apraxia type 2

Chiara Criscuolo, Luchino Chessa, Silvia Di Giandomenico, +13

Neurology

Lipoid proteinosis: case report and review of the literature.

Silvia Di Giandomenico, Roberto De Masi, Denise Cassandrini, +4

PubMed

Lipid AnalysisHealth SciencesSurgical PathologyLipid DisordersHistopathology +11

“Bartter-like” phenotype in Kearns–Sayre syndrome

Francesco Emma, Carla Pizzini, Alessandra Tessa, +5

Pediatric Nephrology

BiologyClinical DisordersMendelian DisorderGenetic DisorderGenetics +2

Six novel mutations of theRUNX2 gene in Italian patients with cleidocranial dysplasia

Alessandra Tessa, Sergio Salvi, Carlo Casali, +12

Human Mutation

An inherited large-scale rearrangement in SACS associated with spastic ataxia and hearing loss

Carlo Casali, Gaetano S. Grieco, Daniela Orteschi, +8

Neurogenetics

Developmental BiologyMedicineGeneticsInherited Large-scale RearrangementSpastic Ataxia +5

A novel locus for autosomal recessive spastic ataxia on chromosome 17p

Naïma Bouslam, Ahmed Bouhouche, Ali Benomar, +10

Human Genetics

Mendelian DisorderGenetic DisorderGeneticsMolecular GeneticsDisease Gene Identification +4

Characterization of a new trabectedin‐resistant myxoid liposarcoma cell line that shows collateral sensitivity to methylating agents

Sarah Uboldi, Sergio Bernasconi, Michela Romano, +21

International Journal of Cancer

Tumor BiologyMalignant DiseaseMedicinePhotocarcinogenesisPathology +10