D. Galatolo

发表

New pathogenic variants in COQ4 cause ataxia and neurodevelopmental disorder without detectable CoQ10 deficiency in muscle or skin fibroblasts

A. Tessa, F. Santorelli, F. Gemignani, 2021, Journal of Neurology.

Identification of mutations in AP4S1/SPG52 through next generation sequencing in three families

A. Tessa, F. Santorelli, R. Battini, 2016, European journal of neurology.

Neuroacanthocytosis Syndromes in an Italian Cohort: Clinical Spectrum, High Genetic Variability and Muscle Involvement

A. Bentivoglio, G. De Michele, A. Tessa, 2021, Genes.

Ataxia-myoclonus syndrome due to a novel homozygous ATP13A2 mutation.

A. Filla, F. Santorelli, D. Galatolo, 2020, Parkinsonism & related disorders.

Spinocerebellar ataxia type 48: last but not least

G. De Michele, A. Filla, A. Tessa, 2020, Neurological Sciences.

Integrative Organelle-Based Functional Proteomics: In Silico Prediction of Impaired Functional Annotations in SACS KO Cell Model

M. Lalowski, F. Santorelli, F. Gemignani, 2022, Biomolecules.

Bi‐allelic mutations in HARS1 severely impair histidyl‐tRNA synthetase expression and enzymatic activity causing a novel multisystem ataxic syndrome

C. Francklyn, A. Filla, A. Tessa, 2020, Human mutation.

The “crab sign”: an imaging feature of spinocerebellar ataxia type 48

A. Brunetti, L. Ugga, M. Quarantelli, 2020, Neuroradiology.

Expanding the clinical and genetic heterogeneity of SPAX5

A. Tessa, F. Santorelli, R. Battini, 2020, Annals of clinical and translational neurology.

NGS in Hereditary Ataxia: When Rare Becomes Frequent

G. Tedeschi, G. De Michele, A. Filla, 2021, International journal of molecular sciences.

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

A. Filla, A. Tessa, F. Santorelli, 2017, neurogenetics.

Episodic ataxia and severe infantile phenotype in spinocerebellar ataxia type 14: expansion of the phenotype and novel mutations

G. De Michele, A. Filla, A. Tessa, 2021, Journal of Neurology.

Implication of folate deficiency in CYP2U1 loss of function

A. Durr, F. Lamari, S. Picaud, 2021, The Journal of experimental medicine.

Efficient Neuroprotective Rescue of Sacsin-Related Disease Phenotypes in Zebrafish

F. Santorelli, T. Verri, F. Argenton, 2021, International journal of molecular sciences.

A series of Greek children with pure hereditary spastic paraplegia: clinical features and genetic findings

K. Anagnostopoulou, A. Tessa, F. Santorelli, 2016, Journal of Neurology.

New AARS2 Mutations in Two Siblings With Tremor, Downbeat Nystagmus, and Primary Amenorrhea: A Benign Phenotype Without Leukoencephalopathy

A. Filla, F. Santorelli, S. Cocozza, 2020, Movement disorders clinical practice.

The complex phenotype of spinocerebellar ataxia type 48 in eight unrelated Italian families

G. De Michele, A. Filla, A. Tessa, 2020, European journal of neurology.

Overt Hypogonadism May Not Be a Sentinel Sign of RING Finger Protein 216: Two Novel Mutations Associated with Ataxia, Chorea, and Fertility

G. De Michele, A. Filla, F. Santorelli, 2019, Movement disorders clinical practice.

Spinocerebellar ataxia 48 presenting with ataxia associated with cognitive, psychiatric, and extrapyramidal features: A report of two Italian families.

S. Pappatà, G. De Michele, A. Filla, 2019, Parkinsonism & related disorders.

Ataxia and Hypogonadism: a Review of the Associated Genes and Syndromes.

G. De Michele, A. Filla, S. Cocozza, 2023, Cerebellum.

A next generation sequencing‐based analysis of a large cohort of ataxic patients refines the clinical spectrum associated with spinocerebellar ataxia 21

A. Tessa, F. Santorelli, C. Casali, 2021, European journal of neurology.

Functional Network Profiles in ARSACS Disclosed by Aptamer-Based Proteomic Technology

E. Bertini, S. Züchner, F. Santorelli, 2021, Frontiers in Neurology.

Standards of Fluid Biomarker Collection and Pre-analytical Processes in Humans and Mice: Recommendations by the Ataxia Global Initiative Working Group on Biomarkers.

M. Synofzik, F. Santorelli, J. Wolter, 2023, Cerebellum.

Dystonia-Ataxia with early handwriting deterioration in COQ8A mutation carriers: A case series and literature review.

E. Bertini, R. Carrozzo, G. Vasco, 2019, Parkinsonism & related disorders.

Power of NGS-based tests in HSP diagnosis: analysis of massively parallel sequencing in clinical practice

A. Filla, A. Tessa, F. Santorelli, 2023, neurogenetics.

Using Cluster Analysis to Overcome the Limits of Traditional Phenotype–Genotype Correlations: The Example of RYR1-Related Myopathies

G. Comi, G. Gigli, G. Siciliano, 2023, Genes.

Loss of ap4s1 in zebrafish leads to neurodevelopmental defects resembling spastic paraplegia 52

M. Sahin, A. Tessa, F. Santorelli, 2020, Annals of clinical and translational neurology.

A new genetic cause of spastic ataxia: the p.Glu415Lys variant in TUBA4A

G. De Michele, A. Filla, F. Santorelli, 2023, Journal of Neurology.

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

G. Siciliano, A. Malandrini, F. Santorelli, 2022, International journal of molecular sciences.

Learning from massive testing of mitochondrial disorders: UPD explaining unorthodox transmission

A. Tessa, F. Santorelli, R. Battini, 2021, Journal of Medical Genetics.

Targeting autophagy impairment improves the phenotype of a novel CLN8 zebrafish model

Serena Mero, D. Galatolo, S. Doccini, 2024, Neurobiology of Disease.