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Leukocyte Telomere Length as Potential Biomarker of HD Progression: A Follow-Up Study

International journal of molecular sciences, 2022-11, Vol.23 (21), p.13449

2022

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Mutations in the mitochondrial protease gene AFG3L2 cause dominant hereditary ataxia SCA28

Nature genetics, 2010-04, Vol.42 (4), p.313-321

2010

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Altered pituitary morphology as a sign of benign hereditary chorea caused by TITF1/NKX2.1 mutations

Neurogenetics, 2022-04, Vol.23 (2), p.91-102

2022

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Circulating U13 Small Nucleolar RNA as a Potential Biomarker in Huntington's Disease: A Pilot Study

International journal of molecular sciences, 2022-10, Vol.23 (20), p.12440

2022

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Molecular mechanism of Spinocerebellar Ataxia type 6: glutamine repeat disorder, channelopathy and transcriptional dysregulation. The multifaceted aspects of a single mutation

Frontiers in cellular neuroscience, 2015-02, Vol.9, p.36-36

2015

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A channelopathy mutation in the voltage-sensor discloses contributions of a conserved phenylalanine to gating properties of Kv1.1 channels and ataxia

Scientific reports, 2017-07, Vol.7 (1), p.4583-13, Article 4583

2017

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A shared haplotype for dentatorubropallidoluysian atrophy (DRPLA) in Italian families testifies of the recent introduction of the mutation

Journal of human genetics, 2014-03, Vol.59 (3), p.153-157

2014

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Leukocyte Telomere Length Variability as a Potential Biomarker in Patients with PolyQ Diseases

Antioxidants, 2022-07, Vol.11 (8), p.1436

2022

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A Novel De Novo Mutation of the TITF1/NKX2-1 Gene Causing Ataxia, Benign Hereditary Chorea, Hypothyroidism and a Pituitary Mass in a UK Family and Review of the Literature

Cerebellum (London, England), 2014-10, Vol.13 (5), p.588-595

2014

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Complexity of the Genetics and Clinical Presentation of Spinocerebellar Ataxia 17

Frontiers in cellular neuroscience, 2018-11, Vol.12, p.429-429

2018

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Leukocyte telomere shortening in Huntington's disease

Journal of the neurological sciences, 2019-01, Vol.396, p.25-29

2019

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Unusual Age-Dependent Behavior of Leukocytes Telomere Length in Friedreich's Ataxia

Movement disorders, 2024-09

2024

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Genetics of familial adult myoclonus epilepsy: From linkage studies to noncoding repeat expansions

Epilepsia (Copenhagen), 2023-06, Vol.64 (S1), p.S14-S21

2023

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Construction and preliminary characterization of human recombinant proNGF-A variant

Neurochemistry international, 2020-11, Vol.140, p.104812, Article 104812

2020

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Familial hemiplegic migraine in pediatric patients: A genetic, clinical, and follow‐up study

Headache, 2023-07, Vol.63 (7), p.889-898

2023

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Intronic ATTTC repeat expansions in STARD7 in familial adult myoclonic epilepsy linked to chromosome 2

Nature communications, 2019-10, Vol.10 (1), p.4920-10, Article 4920

2019

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Characterization of human frataxin missense variants in cancer tissues

Human mutation, 2019-09, Vol.40 (9), p.1400-1413

2019

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ADCY5-related movement disorders: Frequency, disease course and phenotypic variability in a cohort of paediatric patients

Parkinsonism & related disorders, 2017-08, Vol.41, p.37-43

2017

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De Novo Mutations in PDE10A Cause Childhood-Onset Chorea with Bilateral Striatal Lesions

American journal of human genetics, 2016-04, Vol.98 (4), p.763-771

2016

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In Memoriam: Professor Marina Frontali, MD (1941–2021)

Movement disorders clinical practice (Hoboken, N.J.), 2021-05, Vol.8 (4), p.532-533

2021

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Functional characterization of two novel mutations in TTF-1/NKX2.1 homeodomain in patients with benign hereditary chorea

Journal of the neurological sciences, 2016-01, Vol.360, p.78-83

2016

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Early onset progressive ataxia associated with the first CACNA1A mutation identified within the I–II loop

Journal of the neurological sciences, 2007-12, Vol.263 (1), p.226-226

2007

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Analyzing the Effects of a G137V Mutation in the FXN Gene

Frontiers in molecular neuroscience, 2015-11, Vol.8, p.66-66

2015

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Functional characterization of a novel mutation in TITF-1 in a patient with benign hereditary chorea

Journal of the neurological sciences, 2008-01, Vol.264 (1), p.56-62

2008

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Identification of novel and recurrent CACNA1A gene mutations in fifteen patients with episodic ataxia type 2

Journal of the neurological sciences, 2010-04, Vol.291 (1), p.30-36

2010

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Leukocyte Telomere Length as Potential Biomarker of HD Progression: A Follow-Up Study

Mutations in the mitochondrial protease gene AFG3L2 cause dominant hereditary ataxia SCA28

Altered pituitary morphology as a sign of benign hereditary chorea caused by TITF1/NKX2.1 mutations

Circulating U13 Small Nucleolar RNA as a Potential Biomarker in Huntington's Disease: A Pilot Study

Molecular mechanism of Spinocerebellar Ataxia type 6: glutamine repeat disorder, channelopathy and transcriptional dysregulation. The multifaceted aspects of a single mutation

A channelopathy mutation in the voltage-sensor discloses contributions of a conserved phenylalanine to gating properties of Kv1.1 channels and ataxia

A shared haplotype for dentatorubropallidoluysian atrophy (DRPLA) in Italian families testifies of the recent introduction of the mutation

Leukocyte Telomere Length Variability as a Potential Biomarker in Patients with PolyQ Diseases

A Novel De Novo Mutation of the TITF1/NKX2-1 Gene Causing Ataxia, Benign Hereditary Chorea, Hypothyroidism and a Pituitary Mass in a UK Family and Review of the Literature

Complexity of the Genetics and Clinical Presentation of Spinocerebellar Ataxia 17

Leukocyte telomere shortening in Huntington's disease

Unusual Age-Dependent Behavior of Leukocytes Telomere Length in Friedreich's Ataxia

Genetics of familial adult myoclonus epilepsy: From linkage studies to noncoding repeat expansions

Construction and preliminary characterization of human recombinant proNGF-A variant

Familial hemiplegic migraine in pediatric patients: A genetic, clinical, and follow‐up study

Intronic ATTTC repeat expansions in STARD7 in familial adult myoclonic epilepsy linked to chromosome 2

Characterization of human frataxin missense variants in cancer tissues

ADCY5-related movement disorders: Frequency, disease course and phenotypic variability in a cohort of paediatric patients

De Novo Mutations in PDE10A Cause Childhood-Onset Chorea with Bilateral Striatal Lesions

In Memoriam: Professor Marina Frontali, MD (1941–2021)

Functional characterization of two novel mutations in TTF-1/NKX2.1 homeodomain in patients with benign hereditary chorea

Early onset progressive ataxia associated with the first CACNA1A mutation identified within the I–II loop

Analyzing the Effects of a G137V Mutation in the FXN Gene

Functional characterization of a novel mutation in TITF-1 in a patient with benign hereditary chorea

Identification of novel and recurrent CACNA1A gene mutations in fifteen patients with episodic ataxia type 2

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