Federica Consoli

San Giovanni Rotondo, Italy

Last Updated: 09/26/2026

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Found 23 publications

Intrafamilial Phenotypic Variability in SCA17 with Reduced-Penetrance TBP Expansions.

Intrafamilial Phenotypic Variability in SCA17 with Reduced-Penetrance TBP Expansions.

Journal: Cerebellum (London, England)
Published: September 05, 2025

A novel ANO3 variant in two siblings with different phenotypes.

A novel ANO3 variant in two siblings with different phenotypes.

Journal: Parkinsonism & related disorders
Published: April 02, 2023

Clinical variability in DYNC2H1-related skeletal ciliopathies includes Ellis-van Creveld syndrome.

Clinical variability in DYNC2H1-related skeletal ciliopathies includes Ellis-van Creveld syndrome.

Journal: European journal of human genetics : EJHG
Published: August 19, 2022

SPRED2 loss-of-function causes a recessive Noonan syndrome-like phenotype.

SPRED2 loss-of-function causes a recessive Noonan syndrome-like phenotype.

Journal: American journal of human genetics
Published: July 21, 2021

A Novel Triplet-Primed PCR Assay to Detect the Full Range of Trinucleotide CAG Repeats in the Huntingtin Gene (HTT).

A Novel Triplet-Primed PCR Assay to Detect the Full Range of Trinucleotide CAG Repeats in the Huntingtin Gene (HTT).

Journal: International journal of molecular sciences
Published: January 21, 2021

Generation of induced pluripotent stem cell line CSSi008-A (4698) from a patient affected by advanced stage of Dentato-Rubral-Pallidoluysian atrophy (DRPLA).

Generation of induced pluripotent stem cell line CSSi008-A (4698) from a patient affected by advanced stage of Dentato-Rubral-Pallidoluysian atrophy (DRPLA).

Journal: Stem cell research
Published: June 05, 2019

Paroxysmal Dyskinesias in a PRRT2 Mutation Carrier.

Paroxysmal Dyskinesias in a PRRT2 Mutation Carrier.

Journal: Tremor and other hyperkinetic movements (New York, N.Y.)
Published: October 31, 2018

Generation of the induced pluripotent stem cell line CSSi006-A (3681) from a patient affected by advanced-stage Juvenile Onset Huntington's Disease.

Generation of the induced pluripotent stem cell line CSSi006-A (3681) from a patient affected by advanced-stage Juvenile Onset Huntington's Disease.

Journal: Stem cell research
Published: March 30, 2018

Biological and clinical manifestations of juvenile Huntington's disease: a retrospective analysis.

Biological and clinical manifestations of juvenile Huntington's disease: a retrospective analysis.

Journal: The Lancet. Neurology
Published: March 22, 2018

Generation of induced pluripotent stem cell line, CSSi004-A (2962), from a patient diagnosed with Huntington's disease at the presymptomatic stage.

Generation of induced pluripotent stem cell line, CSSi004-A (2962), from a patient diagnosed with Huntington's disease at the presymptomatic stage.

Journal: Stem cell research
Published: January 12, 2018

Heterozygous missense mutations in NFATC1 are associated with atrioventricular septal defect.

Heterozygous missense mutations in NFATC1 are associated with atrioventricular septal defect.

Journal: Human mutation
Published: January 09, 2018

Generation of induced pluripotent stem cell line, CSSi002-A (2851), from a patient with juvenile Huntington Disease.

Generation of induced pluripotent stem cell line, CSSi002-A (2851), from a patient with juvenile Huntington Disease.

Journal: Stem cell research
Published: December 12, 2017
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Last Updated: 09/26/2026