Author details

Full Name

Sandra D'Alfonso

Affiliation

ORCID

Career Start Year

1990

Papers

181

H Index

Expertise

CM4AI Collaborator

PMID	Paper Title	Journal Title	Published Year
36979682	The p.H63D (p.His63Asp) Polymorphism Is a Modifier of ALS Outcome in Italian and French Patients with Mutations.		2023
38002982	Variability in Clinical Phenotype in TARDBP Mutations: Amyotrophic Lateral Sclerosis Case Description and Literature Review.		2023
38086249	Parkinson's disease and chronic inflammatory demyelinating polyneuropathy: Broadening the clinical spectrum of VCP mutations.		2023
37628709	Neuroinflammatory Pathways in the ALS-FTD Continuum: A Focus on Genetic Variants.		2023
37857779	Parkinsonism in SCA19/22: Dopamine Transporter Imaging in an Italian Family Harboring a Novel Mutation.		2023
37202167	Association of Copresence of Pathogenic Variants Related to Amyotrophic Lateral Sclerosis and Prognosis.	Neurology	2023
37009381	BRAT1 Mutation Retrospective Diagnosis: A Case Report.		2023
37240734	COVID-19 and Health Outcomes in People with Multiple Sclerosis: A Population-Based Study in Italy.		2023
37540342	A case of early-onset Parkinson's disease in a patient with KBG syndrome.		2023
34583942	GBA variants influence cognitive status in amyotrophic lateral sclerosis.	Journal of Neurology, Neurosurgery and Psychiatry	2022
36313067	Clinical and Metabolic Signature of <i>UNC13A</i> rs12608932 Variant in Amyotrophic Lateral Sclerosis.	Neurol Genet	2022
35896380	Systematic evaluation of genetic mutations in ALS: a population-based study.	J Neurol Neurosurg Psychiatry	2022
36223668	Clinical relevance of single-subject brain metabolism patterns in amyotrophic lateral sclerosis mutation carriers.	NeuroImage: Clinical	2022
36008116	Exploring the phenotype of Italian patients with ALS with intermediate <i>ATXN2</i> polyQ repeats.	J Neurol Neurosurg Psychiatry	2022
36143216	A Scoping Review on Body Fluid Biomarkers for Prognosis and Disease Activity in Patients with Multiple Sclerosis.	Journal of Personalized Medicine	2022
35624679	Characterization of the p.L145F and p.S135N Mutations in SOD1: Impact on the Metabolism of Fibroblasts Derived from Amyotrophic Lateral Sclerosis Patients.	Antioxidants (Basel)	2022
35063202	The impact of lifetime coffee and tea loads on Multiple Sclerosis severity.	Clinical Nutrition ESPEN	2022
34922125	Burden of rare coding variants in an Italian cohort of familial multiple sclerosis.	Journal of Neuroimmunology	2022
35159043	Dissecting the Mechanism of Action of Spiperone-A Candidate for Drug Repurposing for Colorectal Cancer.	Cancers (Basel)	2022
34638725	Repeat Expansion Affects the Proteome of Primary Skin Fibroblasts in ALS.	International Journal of Molecular Sciences	2021
33691323	Validation of an Algorithm to Detect Multiple Sclerosis Cases in Administrative Health Databases in Piedmont (Italy): An Application to the Estimate of Prevalence by Age and Urbanization Level.	Neuroepidemiology	2021
33471268	Expanding the genetic spectrum of primary familial brain calcification due to SLC2OA2 mutations: a case series.	Neurogenetics	2021
34353742	Genomic and functional evaluation of TNFSF14 in multiple sclerosis susceptibility.	Journal of Genetics and Genomics	2021
33208543	Mutational Analysis of Known ALS Genes in an Italian Population-Based Cohort.	Neurology	2021
33027627	Metal(loid)s role in the pathogenesis of amyotrophic lateral sclerosis: Environmental, epidemiological, and genetic data.	Environmental Research	2021
34868629	Etiological research in pediatric multiple sclerosis: A tool to assess environmental exposures (PEDiatric Italian Genetic and enviRonment ExposurE Questionnaire).	Mult Scler J Exp Transl Clin	2021
34683108	Targeted Next-Generation Sequencing for the Identification of Genetic Predictors of Radiation-Induced Late Skin Toxicity in Breast Cancer Patients: A Preliminary Study.	Journal of Personalized Medicine	2021
34681001	An Investigation of the Role of Common and Rare Variants in a Large Italian Multiplex Family of Multiple Sclerosis Patients.	Genes (Basel)	2021
35028616	Deletions in are a risk factor for antibody-mediated kidney disease.	Cell Reports Medicine	2021
32844222	Vitamin D Supplementation Modulates ICOS+ and ICOS- Regulatory T Cell in Siblings of Children With Type 1 Diabetes.	Journal of Clinical Endocrinology and Metabolism	2020
31852254	The first case of the p.G294V mutation in a homozygous state: is a single pathogenic allele sufficient to cause ALS?	Amyotrophic Lateral Sclerosis and Frontotemporal Degeneration	2020
31907290	ALS phenotype is influenced by age, sex, and genetics: A population-based study.	Neurology	2020
32251337	Author Correction: Next Generation Sequencing of Pooled Samples: Guideline for Variants' Filtering.	Scientific Reports	2020
31871138	Regional spreading of symptoms at diagnosis as a prognostic marker in amyotrophic lateral sclerosis: a population-based study.	Journal of Neurology, Neurosurgery and Psychiatry	2020
32739880	Generation of an induced pluripotent stem cell line, CSSi011-A (6534), from an Amyotrophic lateral sclerosis patient with heterozygous L145F mutation in SOD1 gene.	Stem Cell Res	2020
31409738	Cognitive impairment across ALS clinical stages in a population-based cohort.	Neurology	2019
30146930	A case of progressive non-fluent aphasia as onset of amyotrophic lateral sclerosis with frontotemporal dementia.	International Journal of Neuroscience	2019
31286297	Analysis of the GCG repeat length in NIPA1 gene in C9orf72-mediated ALS in a large Italian ALS cohort.	Neurological Sciences	2019
31456737	The Impact of Lifetime Alcohol and Cigarette Smoking Loads on Multiple Sclerosis Severity.	Frontiers in Neurology	2019
29770143	A Census of Tandemly Repeated Polymorphic Loci in Genic Regions Through the Comparative Integration of Human Genome Assemblies.	Frontiers in Genetics	2018
30045958	The multistep hypothesis of ALS revisited: The role of genetic mutations.	Neurology	2018
29490503	Characterization of the c9orf72 GC-rich low complexity sequence in two cohorts of Italian and Turkish ALS cases.	Amyotrophic Lateral Sclerosis and Frontotemporal Degeneration	2018
29451027	A case of late-onset OCD developing PLS and FTD.	Amyotrophic Lateral Sclerosis and Frontotemporal Degeneration	2018
29566793	Genome-wide Analyses Identify KIF5A as a Novel ALS Gene.	Neuron	2018
29134445	Ptosis and bulbar onset: an unusual phenotype of familial ALS?	Neurological Sciences	2018
29662465	The Length of Rep1 Microsatellite May Influence Cognitive Evolution in Parkinson's Disease.	Frontiers in Neurology	2018
29685294	Epstein-Barr virus-associated immune reconstitution inflammatory syndrome as possible cause of fulminant multiple sclerosis relapse after natalizumab interruption.	Journal of Neuroimmunology	2018
29587799	HLA alleles modulate EBV viral load in multiple sclerosis.	Journal of Translational Medicine	2018
28445677	Overexpression of the Cytokine BAFF and Autoimmunity Risk.	N Engl J Med	2017
28714469	Transancestral mapping and genetic load in systemic lupus erythematosus.	Nat Commun	2017