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Epilepsy, Behavioral Abnormalities, and Physiological Comorbidities in Syntaxin-Binding Protein 1 (STXBP1) Mutant Zebrafish

PloS one, 2016-03, Vol.11 (3), p.e0151148-e0151148

2016

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Short-Term Effects of Human versus Bovine Sialylated Milk Oligosaccharide Microinjection on Zebrafish Larvae Survival, Locomotor Behavior and Gene Expression

International journal of molecular sciences, 2023-03, Vol.24 (6), p.5456

2023

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Editorial for the Genetics of Muscular Dystrophies from the Pathogenesis to Gene Therapy Special Issue

Genes, 2023-04, Vol.14 (4), p.926

2023

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Management of Hereditary Spastic Paraplegia: A Systematic Review of the Literature

Frontiers in neurology, 2019-01, Vol.10, p.3-3

2019

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Tackling Dysfunction of Mitochondrial Bioenergetics in the Brain

International journal of molecular sciences, 2021-08, Vol.22 (15), p.8325

2021

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Clinical application of next generation sequencing in hereditary spinocerebellar ataxia: increasing the diagnostic yield and broadening the ataxia-spasticity spectrum. A retrospective analysis

Neurogenetics, 2018-01, Vol.19 (1), p.1-8

2018

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Social Preference Tests in Zebrafish: A Systematic Review

Frontiers in veterinary science, 2021-01, Vol.7, p.590057-590057

2021

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Loss of spatacsin function alters lysosomal lipid clearance leading to upper and lower motor neuron degeneration

Neurobiology of disease, 2017-06, Vol.102, p.21-37

2017

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Understanding Spreading Depression from Headache to Sudden Unexpected Death

Frontiers in neurology, 2018-02, Vol.9, p.19-19

2018

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Cerium oxide nanoparticles: the regenerative redox machine in bioenergetic imbalance

Nanomedicine (London, England), 2017-02, Vol.12 (4), p.403-416

2017

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Nutraceutical Screening in a Zebrafish Model of Muscular Dystrophy: Gingerol as a Possible Food Aid

Nutrients, 2021-03, Vol.13 (3), p.998

2021

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Fishing in the Cell Powerhouse: Zebrafish as A Tool for Exploration of Mitochondrial Defects Affecting the Nervous System

International journal of molecular sciences, 2019-05, Vol.20 (10), p.2409

2019

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Converging Role for REEP1/SPG31 in Oxidative Stress

International journal of molecular sciences, 2023-02, Vol.24 (4), p.3527

2023

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Efficient Neuroprotective Rescue of Sacsin-Related Disease Phenotypes in Zebrafish

International journal of molecular sciences, 2021-08, Vol.22 (16), p.8401

2021

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Swimming in Deep Water : Zebrafish Modeling of Complicated Forms of Hereditary Spastic Paraplegia and Spastic Ataxia

Frontiers in neuroscience, 2019-12, Vol.13, p.1311-1311

2019

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Methylmalonic and propionic aciduria

American journal of medical genetics. Part C, Seminars in medical genetics, 2006-05, Vol.142C (2), p.104-112

2006

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Genetically induced dysfunctions of Kir2.1 channels: implications for short QT3 syndrome and autism-epilepsy phenotype

Human molecular genetics, 2014-09, Vol.23 (18), p.4875-4886

2014

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Congenital myopathies: clinical phenotypes and new diagnostic tools

Italian journal of pediatrics, 2017-11, Vol.43 (1), p.101-101, Article 101

2017

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Cerebello-Cortical Alterations Linked to Cognitive and Social Problems in Patients With Spastic Paraplegia Type 7: A Preliminary Study

Frontiers in neurology, 2020-02, Vol.11, p.82-82

2020

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Identification of the SPG15 Gene, Encoding Spastizin, as a Frequent Cause of Complicated Autosomal-Recessive Spastic Paraplegia, Including Kjellin Syndrome

American journal of human genetics, 2008-04, Vol.82 (4), p.992-1002

2008

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Functional assays in high-resolution clear native gels to quantify mitochondrial complexes in human biopsies and cell lines

Electrophoresis, 2007-11, Vol.28 (21), p.3811-3820

2007

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PPAR-gamma agonist pioglitazone recovers mitochondrial quality control in fibroblasts from PITRM1 -deficient patients

Frontiers in pharmacology, 2023, Vol.14, p.1220620-1220620

2023

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Epilepsy, Behavioral Abnormalities, and Physiological Comorbidities in Syntaxin-Binding Protein 1 (STXBP1) Mutant Zebrafish

Short-Term Effects of Human versus Bovine Sialylated Milk Oligosaccharide Microinjection on Zebrafish Larvae Survival, Locomotor Behavior and Gene Expression

Editorial for the Genetics of Muscular Dystrophies from the Pathogenesis to Gene Therapy Special Issue

Management of Hereditary Spastic Paraplegia: A Systematic Review of the Literature

Tackling Dysfunction of Mitochondrial Bioenergetics in the Brain

Clinical application of next generation sequencing in hereditary spinocerebellar ataxia: increasing the diagnostic yield and broadening the ataxia-spasticity spectrum. A retrospective analysis

Social Preference Tests in Zebrafish: A Systematic Review

Adaptor protein complex 4 deficiency: a paradigm of childhood-onset hereditary spastic paraplegia caused by defective protein trafficking

Loss of spatacsin function alters lysosomal lipid clearance leading to upper and lower motor neuron degeneration

Understanding Spreading Depression from Headache to Sudden Unexpected Death

Cerium oxide nanoparticles: the regenerative redox machine in bioenergetic imbalance

Nutraceutical Screening in a Zebrafish Model of Muscular Dystrophy: Gingerol as a Possible Food Aid

The clinical and molecular spectrum of ZFYVE26-associated hereditary spastic paraplegia: SPG15

Fishing in the Cell Powerhouse: Zebrafish as A Tool for Exploration of Mitochondrial Defects Affecting the Nervous System

Converging Role for REEP1/SPG31 in Oxidative Stress

Efficient Neuroprotective Rescue of Sacsin-Related Disease Phenotypes in Zebrafish

Swimming in Deep Water : Zebrafish Modeling of Complicated Forms of Hereditary Spastic Paraplegia and Spastic Ataxia

Methylmalonic and propionic aciduria

Genetically induced dysfunctions of Kir2.1 channels: implications for short QT3 syndrome and autism-epilepsy phenotype

Congenital myopathies: clinical phenotypes and new diagnostic tools

Cerebello-Cortical Alterations Linked to Cognitive and Social Problems in Patients With Spastic Paraplegia Type 7: A Preliminary Study

A Schematic Approach to Defining the Prevalence of COL VI Variants in Five Years of Next-Generation Sequencing

Identification of the SPG15 Gene, Encoding Spastizin, as a Frequent Cause of Complicated Autosomal-Recessive Spastic Paraplegia, Including Kjellin Syndrome

Functional assays in high-resolution clear native gels to quantify mitochondrial complexes in human biopsies and cell lines

PPAR-gamma agonist pioglitazone recovers mitochondrial quality control in fibroblasts from PITRM1 -deficient patients

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