Marta Romani - Publications

Atypical Childhood-onset Neuroaxonal Dystrophy in an Indian Girl.

Journal: Journal of pediatric neurosciences

Published: September 14, 2019

Impaired urinary concentration ability is a sensitive predictor of renal disease progression in Joubert syndrome.

Journal: Nephrology, dialysis, transplantation : official publication of the European Dialysis and Transplant Association - European Renal Association

Published: March 13, 2018

Negative Regulation of Mitochondrial Antiviral Signaling Protein-Mediated Antiviral Signaling by the Mitochondrial Protein LRPPRC During Hepatitis C Virus Infection.

Journal: Hepatology (Baltimore, Md.)

Published: November 07, 2017

Hypomorphic Recessive Variants in SUFU Impair the Sonic Hedgehog Pathway and Cause Joubert Syndrome with Cranio-facial and Skeletal Defects.

Journal: American journal of human genetics

Published: June 01, 2017

GNAO1 encephalopathy: Broadening the phenotype and evaluating treatment and outcome.

Journal: Neurology. Genetics

Published: January 11, 2017

Very mild features of dysequilibrium syndrome associated with a novel VLDLR missense mutation.

Journal: Neurogenetics

Published: April 11, 2016

Mutations in CEP120 cause Joubert syndrome as well as complex ciliopathy phenotypes.

Journal: Journal of medical genetics

Published: February 10, 2016

"Fork and bracket" syndrome expands the spectrum of SBF1-related sensory motor polyneuropathies.

Journal: Neurology. Genetics

Published: November 05, 2015

Clinical, neuroradiological and molecular characterization of cerebellar dysplasia with cysts (Poretti-Boltshauser syndrome).

Journal: European journal of human genetics : EJHG

Published: October 14, 2015

Elevated aspartate aminotransferase and lactate dehydrogenase levels are a constant finding in PLA2G6-associated neurodegeneration.

Journal: European journal of neurology

Published: August 10, 2015

MKS5 and CEP290 Dependent Assembly Pathway of the Ciliary Transition Zone.

Journal: PLoS biology

Published: July 16, 2015

Cognitive rehabilitation in a child with Joubert Syndrome: Developmental trends and adaptive changes in a single case report.

Journal: Research in developmental disabilities

Published: March 19, 2015