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Amyotrophic lateral sclerosis causes small fiber pathology

European journal of neurology, 2016-02, Vol.23 (2), p.416-420

2016

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Riboflavin-responsive multiple acyl-CoA dehydrogenase deficiency: delayed hypersensitivity reaction and efficacy of low-dose intermittent supplementation

European journal of neurology, 2017-07, Vol.24 (7), p.e41-e42

2017

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Preliminary insights into RNA in CSF of pediatric SMA patients after 6 months of nusinersen

Biology direct, 2023-09, Vol.18 (1), p.1-13, Article 57

2023

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High frequency of TARDBP gene mutations in Italian patients with amyotrophic lateral sclerosis

Human mutation, 2009-04, Vol.30 (4), p.688-694

2009

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Mutations of FUS gene in sporadic amyotrophic lateral sclerosis

Journal of medical genetics, 2010-03, Vol.47 (3), p.190-194

2010

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New FIG4 gene mutations causing aggressive ALS

European journal of neurology, 2018-03, Vol.25 (3), p.e41-e42

2018

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Novel optineurin mutations in patients with familial and sporadic amyotrophic lateral sclerosis

Journal of neurology, neurosurgery and psychiatry, 2011-11, Vol.82 (11), p.1239-1243

2011

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Paroxysmal movement disorders in GLUT1 deficiency syndrome

Neurology, 2008-07, Vol.71 (2), p.146-148

2008

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Analysis of FUS gene mutation in familial amyotrophic lateral sclerosis within an Italian cohort

Neurology, 2009-10, Vol.73 (15), p.1180-1185

2009

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Early white matter involvement in an infant carrying a novel mutation in ACOX1

European journal of paediatric neurology, 2016-05, Vol.20 (3), p.431-434

2016

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Age and founder effect of SOD1 A4V mutation causing ALS

Neurology, 2009-05, Vol.72 (19), p.1634-1639

2009

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The role of androgen receptor gene variants on SBMA phenotype

Journal of the neurological sciences, 2015-10, Vol.357, p.e231-e231

2015

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No effect of AR polyG polymorphism on spinal and bulbar muscular atrophy phenotype

European journal of neurology, 2016-06, Vol.23 (6), p.1134-1136

2016

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Clinical and molecular report of novel GALC mutations in Moroccan patient with Krabbe disease: case report

BMC pediatrics, 2015-11, Vol.15 (181), p.182-182, Article 182

2015

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Spinocerebellar ataxia type 17 (SCA17) : Oculomotor phenotype and clinical characterization of 15 Italian patients

Journal of neurology, 2007-11, Vol.254 (11), p.1538-1546

2007

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FMR1 gene premutation is a frequent genetic cause of late-onset sporadic cerebellar ataxia

Neurology, 2005-01, Vol.64 (1), p.145-147

2005

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Novel and recurrent spastin mutations in a large series of SPG4 Italian families

Neuroscience letters, 2012-10, Vol.528 (1), p.42-45

2012

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Granny trips down: is she carrying the big bad wolf?

Neurological sciences, 2013-11, Vol.34 (11), p.2077-2079

2013

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Biological abnormalities of peripheral A2A receptors in a large representation of polyglutamine disorders and Huntington's disease stages

Neurobiology of disease, 2007-07, Vol.27 (1), p.36-43

2007

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Ataxia with isolated vitamin E deficiency: neurological phenotype, clinical follow-up and novel mutations in TTPA gene in Italian families

Neurological sciences, 2004-07, Vol.25 (3), p.130-137

2004

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Predictive Genetic Tests in Neurodegenerative Disorders: A Methodological Approach Integrating Psychological Counseling for At-Risk Individuals and Referring Clinicians

European neurology, 2010-01, Vol.64 (1), p.33-41

2010

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Riboflavin‐responsive multiple acyl‐CoA dehydrogenase deficiency: delayed hypersensitivity reaction and efficacy of low‐dose intermittent supplementation

European journal of neurology, 2017-07, Vol.24 (7), p.e41-e42

2017

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Biological abnormalities of peripheral A(2A) receptors in a large representation of polyglutamine disorders and Huntington's disease stages

Neurobiology of disease, 2007-07, Vol.27 (1), p.36

2007

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Maternally inherited myopathy and cardiomyopathy: association with mutation in mitochondrial DNA tRNA(Leu)(UUR)

The Lancet (British edition), 1991-07, Vol.338 (8760), p.143-147

1991

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Amyotrophic lateral sclerosis causes small fiber pathology

Riboflavin-responsive multiple acyl-CoA dehydrogenase deficiency: delayed hypersensitivity reaction and efficacy of low-dose intermittent supplementation

Preliminary insights into RNA in CSF of pediatric SMA patients after 6 months of nusinersen

High frequency of TARDBP gene mutations in Italian patients with amyotrophic lateral sclerosis

Mutations of FUS gene in sporadic amyotrophic lateral sclerosis

New FIG4 gene mutations causing aggressive ALS

Novel optineurin mutations in patients with familial and sporadic amyotrophic lateral sclerosis

Paroxysmal movement disorders in GLUT1 deficiency syndrome

Analysis of FUS gene mutation in familial amyotrophic lateral sclerosis within an Italian cohort

Early white matter involvement in an infant carrying a novel mutation in ACOX1

Age and founder effect of SOD1 A4V mutation causing ALS

The role of androgen receptor gene variants on SBMA phenotype

No effect of AR polyG polymorphism on spinal and bulbar muscular atrophy phenotype

Clinical and molecular report of novel GALC mutations in Moroccan patient with Krabbe disease: case report

Spinocerebellar ataxia type 17 (SCA17) : Oculomotor phenotype and clinical characterization of 15 Italian patients

FMR1 gene premutation is a frequent genetic cause of late-onset sporadic cerebellar ataxia

Novel and recurrent spastin mutations in a large series of SPG4 Italian families

Granny trips down: is she carrying the big bad wolf?

Biological abnormalities of peripheral A2A receptors in a large representation of polyglutamine disorders and Huntington's disease stages

Ataxia with isolated vitamin E deficiency: neurological phenotype, clinical follow-up and novel mutations in TTPA gene in Italian families

Predictive Genetic Tests in Neurodegenerative Disorders: A Methodological Approach Integrating Psychological Counseling for At-Risk Individuals and Referring Clinicians

The first reported generation of several induced pluripotent stem cell lines from homozygous and heterozygous Huntington's disease patients demonstrates mutation related enhanced lysosomal activity

Riboflavin‐responsive multiple acyl‐CoA dehydrogenase deficiency: delayed hypersensitivity reaction and efficacy of low‐dose intermittent supplementation

Biological abnormalities of peripheral A(2A) receptors in a large representation of polyglutamine disorders and Huntington's disease stages

Maternally inherited myopathy and cardiomyopathy: association with mutation in mitochondrial DNA tRNA(Leu)(UUR)

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