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Episodic Ataxias: Faux or Real?

International journal of molecular sciences, 2020-09, Vol.21 (18), p.6472

2020

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Riluzole in patients with hereditary cerebellar ataxia: a randomised, double-blind, placebo-controlled trial

Lancet neurology, 2015-10, Vol.14 (10), p.985-991

2015

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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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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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Localization of a Novel Locus for Autosomal Recessive Early-Onset Parkinsonism, PARK6, on Human Chromosome 1p35-p36

American journal of human genetics, 2001-04, Vol.68 (4), p.895-900

2001

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Does arterial hypertension influence the onset of Huntington's disease?

PloS one, 2018-05, Vol.13 (5), p.e0197975-e0197975

2018

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Fractal analysis reveals reduced complexity of retinal vessels in CADASIL

PloS one, 2011-04, Vol.6 (4), p.e19150-e19150

2011

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Rhabdoid tumor predisposition syndrome caused by SMARCB1 constitutional deletion: prenatal detection of new case of recurrence in siblings due to gonadal mosaicism

Familial cancer, 2016-01, Vol.15 (1), p.123-126

2016

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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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Spinocerebellar ataxia type 6: Channelopathy or glutamine repeat disorder?

Brain research bulletin, 2001-11, Vol.56 (3-4), p.227-231

FRONTALI, Marina

2001

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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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Is the oxidant/antioxidant status altered in CADASIL patients?

PloS one, 2013-06, Vol.8 (6), p.e67077

2013

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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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D6 Dna damage in lymphocytes as a predictor of illness evolution in pre-manifest and overt huntington’s disease

Journal of neurology, neurosurgery and psychiatry, 2016-09, Vol.87 (Suppl 1), p.A35-A36

2016

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Novel homozygous GBA2 mutation in a patient with complicated spastic paraplegia

Clinical neurology and neurosurgery, 2018-05, Vol.168, p.60-63

2018

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Effects of an intensive rehabilitation programme on patients with Huntington's disease: a pilot study

Clinical rehabilitation, 2007-07, Vol.21 (7), p.603-613

2007

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Corrigendum to “Novel homozygous GBA2 mutation in a patient with complicated spastic paraplegia” [Clin. Neurol. Neurosurg. 168 (May) (2018) 60–63]

Clinical neurology and neurosurgery, 2018-09, Vol.172, p.190-190

2018

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Diagnostic genetic testing for Huntington's disease

Practical neurology, 2015-02, Vol.15 (1), p.80-84

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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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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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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Episodic Ataxias: Faux or Real?

Riluzole in patients with hereditary cerebellar ataxia: a randomised, double-blind, placebo-controlled trial

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

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

Localization of a Novel Locus for Autosomal Recessive Early-Onset Parkinsonism, PARK6, on Human Chromosome 1p35-p36

Does arterial hypertension influence the onset of Huntington's disease?

Fractal analysis reveals reduced complexity of retinal vessels in CADASIL

Rhabdoid tumor predisposition syndrome caused by SMARCB1 constitutional deletion: prenatal detection of new case of recurrence in siblings due to gonadal mosaicism

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

Spinocerebellar ataxia type 6: Channelopathy or glutamine repeat disorder?

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

Is the oxidant/antioxidant status altered in CADASIL patients?

Leukocyte telomere shortening in Huntington's disease

Exploring by whole exome sequencing patients with initial diagnosis of Rubinstein–Taybi syndrome: the interconnections of epigenetic machinery disorders

D6 Dna damage in lymphocytes as a predictor of illness evolution in pre-manifest and overt huntington’s disease

Frataxin deficiency in Friedreich’s ataxia is associated with reduced levels of HAX-1, a regulator of cardiomyocyte death and survival

Novel homozygous GBA2 mutation in a patient with complicated spastic paraplegia

Effects of an intensive rehabilitation programme on patients with Huntington's disease: a pilot study

Corrigendum to “Novel homozygous GBA2 mutation in a patient with complicated spastic paraplegia” [Clin. Neurol. Neurosurg. 168 (May) (2018) 60–63]

Diagnostic genetic testing for Huntington's disease

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

Analyzing the Effects of a G137V Mutation in the FXN Gene

Effects of Sapropterin on Endothelium-Dependent Vasodilation in Patients With CADASIL: A Randomized Controlled Trial

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

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