Massimo Pandolfo

Q: What Schools Are Affiliated With Massimo Pandolfo

Massimo Pandolfo is affiliated with the following schools: University of Utah, Brescia University, Université libre de Bruxelles, McGill University, University of Milan, University of Oxford, Stanford University, Baylor College of Medicine

Massimo Pandolfo's AcademicInfluence.com Rankings

Massimo Pandolfo

Physics

#7577

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#9619

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Physics

Massimo Pandolfo's Degrees

PhD Physics University of Milan
Masters Physics University of Milan
Bachelors Physics University of Milan

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Massimo Pandolfo's Published Works

Number of citations in a given year to any of this author's works

Total number of citations to an author for the works they published in a given year. This highlights publication of the most important work(s) by the author

Published Works

Friedreich's Ataxia: Autosomal Recessive Disease Caused by an Intronic GAA Triplet Repeat Expansion (1996) (2557)
Scale for the assessment and rating of ataxia (2006) (1052)
Regulation of mitochondrial iron accumulation by Yfh1p, a putative homolog of frataxin. (1997) (909)
Common genetic variants influence human subcortical brain structures (2015) (731)
Frataxin is reduced in Friedreich ataxia patients and is associated with mitochondrial membranes. (1997) (698)
HLA-A*3101 and carbamazepine-induced hypersensitivity reactions in Europeans. (2011) (675)
The ENIGMA Consortium: large-scale collaborative analyses of neuroimaging and genetic data (2014) (646)
Identification of common variants associated with human hippocampal and intracranial volumes (2012) (617)
Siponimod versus placebo in secondary progressive multiple sclerosis (EXPAND): a double-blind, randomised, phase 3 study (2018) (559)
Senataxin, the ortholog of a yeast RNA helicase, is mutant in ataxia-ocular apraxia 2 (2004) (458)
Genetic risk factors for ischaemic stroke and its subtypes (the METASTROKE Collaboration): a meta-analysis of genome-wide association studies (2012) (446)
Friedreich's ataxia: Point mutations and clinical presentation of compound heterozygotes (1999) (361)
Sticky DNA: self-association properties of long GAA.TTC repeats in R.R.Y triplex structures from Friedreich's ataxia. (1999) (314)
THE MOLECULAR BASIS (2002) (302)
Mutations in DEPDC5 cause familial focal epilepsy with variable foci (2013) (291)
Inhibitory Effects of Expanded GAA·TTC Triplet Repeats from Intron I of the Friedreich Ataxia Gene on Transcription and Replicationin Vivo * (1998) (290)
Phenotypic variability in friedreich ataxia: Role of the associated GAA triplet repeat expansion (1997) (272)
Rare deletions at 16p13.11 predispose to a diverse spectrum of sporadic epilepsy syndromes. (2010) (240)
Novel genetic loci associated with hippocampal volume (2017) (238)
Effects of anti–glutamic acid decarboxylase antibodies associated with neurological diseases (2007) (235)
The pathogenesis of Friedreich ataxia and the structure and function of frataxin (2009) (232)
Diagnosis and treatment of Friedreich ataxia: a European perspective (2009) (230)
Spinocerebellar Ataxia Types 1, 2, 3 and 6: the Clinical Spectrum of Ataxia and Morphometric Brainstem and Cerebellar Findings (2008) (226)
Incidence of dominant spinocerebellar and Friedreich triplet repeats among 361 ataxia families (1998) (222)
HDAC Inhibitors Correct Frataxin Deficiency in a Friedreich Ataxia Mouse Model (2008) (221)
The Friedreich ataxia GAA triplet repeat: premutation and normal alleles. (1997) (214)
Localization of Friedreich ataxia phenotype with selective vitamin E deficiency to chromosome 8q by homozygosity mapping (1993) (207)
Novel genetic loci underlying human intracranial volume identified through genome-wide association (2016) (192)
Effect of natalizumab on disease progression in secondary progressive multiple sclerosis (ASCEND): a phase 3, randomised, double-blind, placebo-controlled trial with an open-label extension (2018) (190)
Multicentre search for genetic susceptibility loci in sporadic epilepsy syndrome and seizure types: a case-control study (2007) (189)
Sticky DNA, a Self-associated Complex Formed at Long GAA·TTC Repeats in Intron 1 of the Frataxin Gene, Inhibits Transcription* (2001) (185)
Increased levels of plasma malondialdehyde in Friedreich ataxia. (2000) (178)
Epilepsy, hippocampal sclerosis and febrile seizures linked by common genetic variation around SCN1A (2013) (172)
The gene for paroxysmal non-kinesigenic dyskinesia encodes an enzyme in a stress response pathway. (2004) (172)
The natural history of spinocerebellar ataxia type 1, 2, 3, and 6 (2011) (167)
Trinucleotide repeats in 202 families with ataxia: a small expanded (CAG)n allele at the SCA17 locus. (2002) (164)
The Neurological Presentation of Ceruloplasmin Gene Mutations (2008) (163)
Long-term disease progression in spinocerebellar ataxia types 1, 2, 3, and 6: a longitudinal cohort study (2015) (163)
Frataxin knockin mouse (2002) (162)
Biological and clinical characteristics of the European Friedreich's Ataxia Consortium for Translational Studies (EFACTS) cohort: a cross-sectional analysis of baseline data (2015) (159)
Common genetic variation and susceptibility to partial epilepsies: a genome-wide association study (2010) (152)
Visualization, quantification and correlation of brain atrophy with clinical symptoms in spinocerebellar ataxia types 1, 3 and 6 (2010) (150)
Genetic architecture of subcortical brain structures in 38,851 individuals (2019) (148)
Homozygosity mapping of Hallervorden–Spatz syndrome to chromosome 20p12.3–p13 (1996) (143)
Neurons and cardiomyocytes derived from induced pluripotent stem cells as a model for mitochondrial defects in Friedreich’s ataxia (2012) (142)
Genotype–phenotype correlation of paroxysmal nonkinesigenic dyskinesia (2007) (138)
Two New Pimelic Diphenylamide HDAC Inhibitors Induce Sustained Frataxin Upregulation in Cells from Friedreich's Ataxia Patients and in a Mouse Model (2010) (136)
Communication via gap junctions underlies early functional and beneficial interactions between grafted neural stem cells and the host (2010) (131)
Modulation of the age at onset in spinocerebellar ataxia by CAG tracts in various genes. (2014) (131)
Epigenetic therapy for Friedreich ataxia (2014) (125)
Genotype-specific patterns of atrophy progression are more sensitive than clinical decline in SCA1, SCA3 and SCA6. (2013) (122)
PGC-1alpha Down-Regulation Affects the Antioxidant Response in Friedreich's Ataxia (2010) (121)
Consensus Paper: Pathological Mechanisms Underlying Neurodegeneration in Spinocerebellar Ataxias (2014) (120)
Mapping of genes predisposing to idiopathic generalized epilepsy. (1995) (112)
Aminopyridines Correct Early Dysfunction and Delay Neurodegeneration in a Mouse Model of Spinocerebellar Ataxia Type 1 (2011) (107)
Mapping of a gene determining tuberous sclerosis to human chromosome 11q14-11q23. (1990) (105)
Molecular pathogenesis of Friedreich ataxia. (1999) (103)
Progression characteristics of the European Friedreich’s Ataxia Consortium for Translational Studies (EFACTS): a 2 year cohort study (2016) (103)
Functional genomic analysis of frataxin deficiency reveals tissue-specific alterations and identifies the PPARγ pathway as a therapeutic target in Friedreich’s ataxia (2009) (100)
TARDBP (TDP‐43) sequence analysis in patients with familial and sporadic ALS: identification of two novel mutations (2009) (100)
Deferiprone in Friedreich ataxia: A 6‐Month randomized controlled trial (2014) (97)
Mapping of a gene determining familial partial epilepsy with variable foci to chromosome 22q11-q12. (1999) (95)
Characteristics and Outcomes of Patients With Multiple Cervical Artery Dissection (2014) (95)
The Cerebellum and its Disorders: SPORADIC DISEASES (2001) (95)
Unique origin and specific ethnic distribution of the Friedreich ataxia GAA expansion (2000) (94)
Early‐onset ataxia with cardiomyopathy and retained tendon reflexes maps to the friedreich's ataxia locus on chromosome 9q (1995) (90)
Unusually mild tuberous sclerosis phenotype is associated with TSC2 R905Q mutation (2006) (89)
Spinocerebellar Ataxia Types 1, 2, 3 and 6: the Clinical Spectrum of Ataxia and Morphometric Brainstem and Cerebellar Findings (2012) (83)
Frataxin deficiency enhances apoptosis in cells differentiating into neuroectoderm. (2001) (83)
Somatic mosaicism for Friedreich's ataxia GAA triplet repeat expansions in the central nervous system (1997) (82)
Manganese superoxide dismutase induction by iron is impaired in Friedreich ataxia cells (2001) (81)
Knock‐out of the cyaY gene in Escherichia coli does not affect cellular iron content and sensitivity to oxidants (1999) (81)
EFNS/ENS Consensus on the diagnosis and management of chronic ataxias in adulthood (2014) (81)
Spinocerebellar ataxia type 8: molecular genetic comparisons and haplotype analysis of 37 families with ataxia. (2004) (77)
Mammalian single‐stranded DNA binding protein UP I is derived from the hnRNP core protein A1. (1986) (75)
Iron metabolism and mitochondrial abnormalities in Friedreich ataxia. (2002) (75)
Central role and mechanisms of β‐cell dysfunction and death in friedreich ataxia–associated diabetes (2012) (71)
Deferiprone for the treatment of Friedreich's ataxia (2013) (70)
Frataxin Shows Developmentally Regulated Tissue-Specific Expression in the Mouse Embryo (1997) (70)
Mutations and polymorphisms of the CLCN2 gene in idiopathic epilepsy (2004) (68)
Consensus clinical management guidelines for Friedreich ataxia (2014) (68)
Antioxidants and other pharmacological treatments for Friedreich ataxia. (2009) (67)
Proprotein Convertase Subtilisin/Kexin Type 9 (PCSK9) Gene Is a Risk Factor of Large-Vessel Atherosclerosis Stroke (2007) (67)
Decreased Brain Protein Levels of Cytochrome Oxidase Subunits in Alzheimer's Disease and in Hereditary Spinocerebella Ataxia Disorders (1999) (66)
Grafting Neural Precursor Cells Promotes Functional Recovery in an SCA1 Mouse Model (2009) (66)
Molecular genetics and pathogenesis of Friedreich ataxia (1998) (63)
Down-regulation of the dopamine receptor D2 in mice lacking ataxin 1. (2007) (62)
Familial Partial Epilepsy with Variable Foci: Clinical Features and Linkage to Chromosome 22q12 (2004) (61)
Drug Insight: antioxidant therapy in inherited ataxias (2008) (61)
Familial mesial temporal lobe epilepsy maps to chromosome 4q13.2-q21.3 (2007) (61)
A 22-Year Follow-up Study of Long-term Cardiac Outcome and Predictors of Survival in Friedreich Ataxia. (2015) (60)
Is the Addenbrooke’s Cognitive Examination effective to detect frontotemporal dementia? (2004) (60)
A gene expression phenotype in lymphocytes from friedreich ataxia patients (2011) (59)
Brain glyceraldehyde-3-phosphate dehydrogenase activity in human trinucleotide repeat disorders. (1998) (58)
Pharmacological treatments for Friedreich ataxia. (2016) (57)
A 1.5-Mb deletion in 17p11.2-p12 is frequently observed in Italian families with hereditary neuropathy with liability to pressure palsies. (1995) (56)
Falls in Spinocerebellar Ataxias: Results of the EuroSCA Fall Study (2010) (55)
Unveiling a common mechanism of apoptosis in β-cells and neurons in Friedreich's ataxia. (2015) (55)
Increasing frataxin gene expression with histone deacetylase inhibitors as a therapeutic approach for Friedreich's ataxia (2013) (55)
Cerebellar and Afferent Ataxias (2013) (54)
Linkage studies in progressive myoclonus epilepsy (1992) (53)
Mapping of the congenital generalized hypertrichosis locus to chromosome Xq24–q27.1 (1995) (53)
Survival in patients with spinocerebellar ataxia types 1, 2, 3, and 6 (EUROSCA): a longitudinal cohort study (2018) (52)
A candidate gene study of antiepileptic drug tolerability and efficacy identifies an association of CYP2C9 variants with phenytoin toxicity (2011) (52)
Gene expression profiling in frataxin deficient mice: Microarray evidence for significant expression changes without detectable neurodegeneration (2006) (52)
A new clinical and molecular form of Unverricht-Lundborg disease localized by homozygosity mapping. (2005) (51)
The S18Y polymorphism in the UCHL1 gene is a genetic modifier in Huntington’s disease (2006) (51)
Spinocerebellar ataxia type 10 is rare in populations other than Mexicans (2002) (50)
Genetic analysis of candidate genes modifying the age-at-onset in Huntington’s disease (2006) (50)
Variant on 9p21 strongly associates with coronary heart disease, but lacks association with common stroke (2009) (48)
A nonpathogenic GAAGGA repeat in the Friedreich gene: Implications for pathogenesis (1999) (47)
Delayed‐onset Friedreich's ataxia revisited (2016) (46)
Friedreich's ataxia: clinical aspects and pathogenesis. (1999) (45)
Friedreich ataxia: Detection of GAA repeat expansions and frataxin point mutations. (2006) (45)
Prospective Analysis of Falls in Dominant Ataxias (2012) (45)
Familial essential tremor in 4 kindreds. Prospects for genetic mapping. (1997) (45)
Multifaceted role of galectin-3 on human glioblastoma cell motility. (2004) (44)
Friedreich ataxia in Italian families: genetic homogeneity and linkage disequilibrium with the marker loci D9S5 and D9S15. (1990) (44)
Eight novel mutations in SPG4 in a large sample of patients with hereditary spastic paraplegia. (2006) (43)
Associations of apolipoprotein E gene with ischemic stroke and intracranial atherosclerosis (2008) (42)
Genetics of epilepsy. (2011) (42)
Friedreich ataxia-induced pluripotent stem cell-derived neurons show a cellular phenotype that is corrected by a benzamide HDAC inhibitor. (2016) (42)
Genome-wide mapping for clinically relevant predictors of lamotrigine- and phenytoin-induced hypersensitivity reactions. (2012) (42)
Very late onset Friedreich's ataxia without cardiomyopathy is associated with limited GAA expansion in the X25 gene (1997) (41)
MME mutation in dominant spinocerebellar ataxia with neuropathy (SCA43) (2016) (39)
Haploinsufficiency of cytosolic serine hydroxymethyltransferase in the Smith-Magenis syndrome. (1995) (39)
Autosomal recessive cerebellar ataxia of adult onset due to STUB1 Mutations (2014) (39)
Clinical data and characterization of the liver conditional mouse model exclude neoplasia as a non-neurological manifestation associated with Friedreich’s ataxia (2012) (37)
Variants of the KCNMB3 regulatory subunit of maxi BK channels affect channel inactivation. (2003) (36)
Normal left ventricular ejection fraction and mass but subclinical myocardial dysfunction in patients with Friedreich's ataxia. (2012) (36)
Friedreich's ataxia GAA repeat expansion in patients with recessive or sporadic ataxia (1997) (35)
Blood–Brain Barrier Promotes Differentiation of Human Fetal Neural Precursor Cells (2009) (35)
Frataxin deficiency and mitochondrial dysfunction. (2002) (34)
Mammalian single-stranded DNA binding proteins and heterogeneous nuclear RNA proteins have common antigenic determinants. (1985) (32)
Single stranded DNA binding proteins derive from hnRNP proteins by proteolysis in mammalian cells. (1985) (31)
Exenatide induces frataxin expression and improves mitochondrial function in Friedreich ataxia. (2019) (31)
Nonataxia symptoms in Friedreich Ataxia (2018) (30)
Frataxin overexpressing mice (2004) (29)
Genetic Architecture of Subcortical Brain Structures in Over 40,000 Individuals Worldwide (2017) (28)
Progression characteristics of the European Friedreich's Ataxia Consortium for Translational Studies (EFACTS): a 4-year cohort study (2021) (28)
Development of histone deacetylase inhibitors as therapeutics for neurological disease. (2009) (28)
The gene for spinal cerebellar ataxia 1 (SCA1) is flanked by two closely linked highly polymorphic microsatellite loci. (1993) (28)
A recessive ataxia diagnosis algorithm for the next generation sequencing era (2017) (27)
Mutations in TNK2 in severe autosomal recessive infantile onset epilepsy (2013) (27)
Long-term evolution of patient-reported outcome measures in spinocerebellar ataxias (2018) (26)
Hemicerebellectomy blocks the enhancement of cortical motor output associated with repetitive somatosensory stimulation in the rat. (2005) (24)
A real-time PCR approach to evaluate adipogenic potential of amniotic fluid-derived human mesenchymal stem cells. (2006) (24)
Depression of extra-cellular GABA and increase of NMDA-induced nitric oxide following acute intra-nuclear administration of alcohol in the cerebellar nuclei of the rat (2008) (23)
Gene set enrichment analyses revealed several affected pathways in Niemann-pick disease type C fibroblasts. (2007) (22)
150 years of Friedreich Ataxia: from its discovery to therapy (2013) (22)
Unverricht–Lundborg disease in a five-generation Arab family (2001) (21)
Clinical, neuropathological, and genetic characterization of STUB1 variants in cerebellar ataxias: a frequent cause of predominant cognitive impairment (2020) (21)
Spinocerebellar ataxia type 14 (2005) (21)
New clues on the origin of the Friedreich ataxia expanded alleles from the analysis of new polymorphisms closely linked to the mutation (2004) (21)
Primary proprioceptive neurons from human induced pluripotent stem cells: a cell model for afferent ataxias (2020) (21)
Antioxidants and other pharmacological treatments for Friedreich ataxia. (2012) (20)
Pediatric epilepsy genetics. (2013) (20)
Two Novel Homozygous SACS Mutations in Unrelated Patients Including the First Reported Case of Paternal UPD as an Etiologic Cause of ARSACS (2011) (20)
Onset features and time to diagnosis in Friedreich’s Ataxia (2020) (20)
Evidence of Linkage between Susceptibility to Multiple Sclerosis and HLA-Class II Loci in Italian Multiplex Families (1995) (20)
Cerebellar cognitive disorder parallels cerebellar motor symptoms in Friedreich ataxia (2020) (19)
Age of onset determines intrinsic functional brain architecture in Friedreich ataxia (2019) (19)
Body Mass Index Decline Is Related to Spinocerebellar Ataxia Disease Progression (2017) (19)
Personality and Neuropsychological Profiles in Friedreich Ataxia (2018) (19)
Study of the adenosinergic system in the brain of HPRT knockout mouse (Lesch-Nyhan disease). (2006) (19)
Evidence for genetically determined degeneration of proprioceptive tracts in Friedreich ataxia (2019) (19)
Central Nervous System Therapeutic Targets in Friedreich Ataxia (2020) (19)
Unusual EEG pattern linked to chromosome 3p in a family with idiopathic generalized epilepsy (1998) (18)
Automated functional upper limb evaluation of patients with Friedreich ataxia using serious games rehabilitation exercises (2018) (18)
A rapid method to isolate (GT)n repeats from yeast artificial chromosomes. (1992) (18)
Prenatal diagnosis of Friedreich ataxia (1998) (18)
Molecular basis of hypoxanthine-guanine phosphoribosyltransferase deficiency in Italian Lesch-Nyhan patients: Identification of nine novel mutations (2004) (17)
Heteroduplexes may confuse the interpretation of PCR‐based molecular tests for the Friedreich ataxia GAA triplet repeat (1999) (17)
Large-scale purification of hnRNP proteins from HeLa cells by affinity chromatography on ssDNA-cellulose. (1987) (17)
The Cerebellum and its Disorders: Preface (2001) (17)
A new locus for familial temporal lobe epilepsy on chromosome 3q (2013) (16)
The cerebellum may be directly involved in cognitive functions. (2002) (16)
Urinary, bowel and sexual symptoms in a cohort of patients with Friedreich’s ataxia (2017) (16)
Abnormal activity of membrane phospholipid synthetic enzymes in the brain of patients with Friedreich's ataxia and spinocerebellar atrophy type‐1 (2000) (16)
A missense mutation (W155R) in an American patient with Friedreich Ataxia (1999) (15)
Suggestive evidence for a new locus for epilepsy with heterogeneous phenotypes on chromosome 17q (2010) (15)
A novel function of Ataxin-1 in the modulation of PP2A activity is dysregulated in the spinocerebellar ataxia type 1. (2013) (15)
The molecular basis of Friedreich ataxia. (2002) (15)
Prediction of Survival With Long‐Term Disease Progression in Most Common Spinocerebellar Ataxia (2019) (15)
Myorhythmia associated with Hodgkin’s lymphoma (2003) (15)
Friedreich and dominant ataxias: quantitative differences in cerebellar dysfunction measurements (2017) (14)
Interaction between repetitive stimulation of the sciatic nerve and functional ablation of cerebellar nucleus interpositus in the rat (2008) (14)
Two novel sequence polymorphisms of the human carnitine palmitoyltransferase II (CPT1) gene. (1993) (14)
The Hereditary Ataxias (1998) (14)
Striking intrafamilial phenotypic variability and spastic paraplegia in the presence of similar homozygous expansions of the FRDA1 gene (2004) (14)
Molecular genetics of the hereditary ataxias. (1998) (14)
Common data elements for clinical research in Friedreich's ataxia (2013) (14)
Linkage Disequilibrium Analysis of Friedreich’s Ataxia in 140 Caucasian Families: Positioning of the Disease Locus and Evaluation of Allelic Heterogeneity (1993) (14)
Evidence for a Common Origin of Most Friedreich Ataxia Chromosomes in the Spanish Population (1996) (14)
Protocol of a randomized, double-blind, placebo-controlled, parallel-group, multicentre study of the efficacy and safety of nicotinamide in patients with Friedreich ataxia (NICOFA) (2019) (12)
[The neurology department]. (2002) (12)
Acute behavioural change in a young woman evolving towards cerebellar syndrome (2010) (12)
Trinucleotide Repeats in 202 Families With Ataxia (2002) (11)
Late onset MLD with normal nerve conduction associated with two novel missense mutations in the ASA gene (2004) (11)
Mapping of Friedreich’s Ataxia Locus by Identification of Recombination Events in Patients Homozygous by Descent (1994) (11)
Identification of a novel mutation in the spastin gene (SPG4) in an Italian family with hereditary spastic paresis. (2006) (10)
The myelin basic protein gene is not a major susceptibility locus for multiple sclerosis in Italian patients (1994) (10)
Quantifiable evaluation of cerebellar signs in children (2015) (10)
Gene set enrichment analysis reveals several globally affected pathways due to SKI-1/S1P inhibition in HepG2 cells. (2007) (10)
Neurologic outcomes in Friedreich ataxia (2020) (10)
Effects of levetiracetam on the production of nitric oxide (2005) (10)
Hyperekplexia in Kurdish families: A possible GLRA1 founder mutation (2006) (10)
A dinucleotide repeat polymorphism (D9S202) in the Friedreich's ataxia region on chromosome 9q13-q21.1. (1993) (10)
Quantification of chloride channel 2 (CLCN2) gene isoforms in normal versus lesion- and epilepsy-associated brain tissue. (2007) (10)
Altered neocortical tactile but preserved auditory early change detection responses in Friedreich ataxia (2019) (9)
Inhibition by some phenolic antioxidants of Ca2+ uptake and neurotransmitter release from brain synaptosomes. (1987) (9)
Cerebellar ataxia, neuropathy, hearing loss, and intellectual disability due to AIFM1 mutation (2020) (9)
Test–retest reliability of the Friedreich’s ataxia rating scale (2020) (9)
Standardized Assessment of Hereditary Ataxia Patients in Clinical Studies (2016) (9)
An anonymous DNA probe (LAMP 92) detects a Pvu II polymorphism on human chromosome 9 [D9S29]. (1988) (9)
Electrophysiological evidence for limited progression of the proprioceptive impairment in Friedreich ataxia (2019) (9)
Adult neural precursor cells form connexin-dependent networks that improve their survival (2015) (9)
Treatment of Friedreich's ataxia (2013) (8)
Novel mutations in the arylsulfatase A gene in eight Italian families with metachromatic leukodystrophy (2006) (8)
HLA genotype as a marker of multiple sclerosis prognosis: A pilot study (2017) (8)
Glutamate metabolism alterations in dominant OPCA (1984) (7)
Erythropoietin and small molecule agonists of the tissue-protective erythropoietin receptor increase FXN expression in neuronal cells in vitro and in Fxn-deficient KIKO mice in vivo (2017) (7)
Transient CNS Deficits and Migrainous Auras in Individuals Without a History of Headache (2014) (7)
Mapping the Friedreich ataxia locus (FRDA) by linkage disequilibrium analysis with highly polymorphic microsatellites. (1994) (7)
Bilateral high-frequency synchronous discharges: a new form of tremor in humans. (2003) (6)
Building bridges between neuroscientific evidence and policy (2015) (6)
Isolation of a new gene in the Friedreich ataxia candidate region on human chromosome 9 by cDNA direct selection. (1994) (6)
Original Research Report A Real-Time PCR Approach to Evaluate Adipogenic Potential of Amniotic Fluid-Derived Human Mesenchymal Stem Cells (2006) (6)
Neurodegeneration With Brain Iron Accumulation (NBIA) Syndromes Presenting With Late‐Onset Craniocervical Dystonia: An Illustrative Case Series‎ (2017) (6)
Localization of the human gene for carnitine palmitoyltransferase to 1p13-p11 by nonradioactive in situ hybridization. (1992) (6)
Age of onset modulates resting‐state brain network dynamics in Friedreich Ataxia (2021) (5)
DNA methylation in Friedreich ataxia silences expression of frataxin isoform E (2022) (5)
Molecular basis of Friedreich ataxia. (2001) (5)
Iron metabolism in mice with partial frataxin deficiency (2008) (5)
Friedreich's Ataxia and Related DNA Loss-of-Function Disorders (2007) (5)
Recessive cerebellar and afferent ataxias — clinical challenges and future directions (2022) (5)
Friedreich's Ataxia Associated With Mitochondrial Myopathy: Clinicopathologic Report (2002) (5)
Corrigendum: Homozygosity mapping of the gene for Hallervoden-Spatz syndrome to chromosome 20p12.3-p13 (1997) (5)
Alcohol toxicity in the cerebellum: clinical aspects (2002) (5)
Molecular analysis of the Friedreich's ataxia locus. (1993) (5)
Recent advances in transgenic models of ALS - Electrophysiological, morphological and neurochemical characterization of hSOD-1 G93A transgenic rats (2005) (4)
This variant alters protein function, but is it pathogenic? (2017) (4)
Research priorities for rare neurological diseases: a representative view of patient representatives and healthcare professionals from the European Reference Network for Rare Neurological Diseases (2020) (4)
A TaqI RFLP in the locus D9S29 on human chromosome 9. (1989) (4)
Efficacy and Safety of Leriglitazone in Patients With Friedreich Ataxia (2022) (4)
Hand Dexterity and Pyramidal Dysfunction in Friedreich Ataxia, A Finger Tapping Study (2020) (4)
A Pvu II RFLP in the human ADH3 gene. (1988) (3)
Cerebrospinal Fluid Proteomics in Friedreich Ataxia Reveals Markers of Neurodegeneration and Neuroinflammation (2022) (3)
Functional genomic analysis of frataxin deficiency reveals tissue-specific alterations and identifies the PPARg pathway as a therapeutic target in Friedreich’s ataxia (2009) (3)
Corrigendum to “Visualization, quantification and correlation of brain atrophy with clinical symptoms in spinocerebellar ataxia types 1, 3 and 6” [NeuroImage 49 (2010) 158–168] (2010) (3)
Recurrent transient ischemic attacks in a patient with intrapulmonary arteriovenous shunting detected after closure of a patent foramen ovale. (2004) (3)
Stereological quantification of Cerebellar Purkinje cells: Literature review and description of a variation of the physical disector method adapted to confocal laser microscopy (2012) (2)
Regional localization by in situ hybridization of a human chromosome 9 marker tightly linked to the Friedreich's ataxia locus (1990) (2)
Prospects for Genetic Mapping (2016) (2)
Genetic analysis of candidate genes modifying the age-at-onset in Huntington's Disease: results of a large European association study (2005) (2)
Faculty Opinions recommendation of Suppression of basal autophagy in neural cells causes neurodegenerative disease in mice. (2006) (2)
EFFECTS OF ANTI-GAD ANTIBODIES ASSOCIATED WITH NEUROLOGICAL DISEASES (2007) (2)
Oxidative stress and loss of Fe-S proteins in Friedreich ataxia induced pluripotent stem cell-derived PSNs can be reversed by restoring FXN expression with a benzamide HDAC inhibitor (2017) (2)
The ENIGMA Consortium: large-scale collaborative analyses of neuroimaging and genetic data (2014) (2)
Epigenetic Therapy for Friedreich’s Ataxia: A Phase I Clinical Trial (PL1.003) (2014) (2)
Animal Models of Friedreich Ataxia (2005) (2)
Faculty Opinions recommendation of Regulation of parkinsonian motor behaviours by optogenetic control of basal ganglia circuitry. (2010) (2)
Rating scales for rare neurological diseases (2019) (2)
Myoclonic epilepsy of lafora and arylsulphatase a deficiency in the same patient (1989) (2)
Consensus clinical management guidelines for (2014) (1)
Prediction of the disease course in Friedreich ataxia (2022) (1)
Genetic risk factors for ischaemic stroke and its subtypes (the METASTROKE Collaboration): a meta-analysis of genome-wide association studies | NOVA. The University of Newcastle's Digital Repository (2012) (1)
On Behalf of the Cadisp Group Characteristics and Outcomes of Patients with Multiple Cervical Artery Dissection Methods Study Population (2013) (1)
Pancreatic beta-cell dysfunction and death cause diabetes in Friedreich’s ataxia (2011) (1)
Cardiomyopathy in Friedreich's ataxia. (2011) (1)
A natural history study to track brain and spinal cord changes in individuals with Friedreich’s ataxia: TRACK-FA study protocol (2022) (1)
Genetic architecture of subcortical brain structures in 38,851 individuals (2019) (1)
Low Prevalence Estimates of Late-Onset Glycogen Storage Disease Type II in French-Speaking Belgium are not Due to Missed Diagnoses. (2018) (1)
Congenital generalized hypertrichosis (CGH) maps to Xq26-q27 (1994) (1)
Homozygosity mapping of the gene for Hallervoden-Spatz syndrome to chromosome 20p12.3-p13 (Nature Genetics (1996) 14 (479-481)) (1997) (1)
Photothrombosis as a model for post-stroke epilepsy in rodents: Results of chronic EEG recording (2005) (1)
Development and validation of a new ataxia rating scale: Scale for the Assessment and Rating of Ataxia (SARA) (2005) (1)
Clinical management guidelines for Friedreich ataxia: best practice in rare diseases (2022) (1)
Induced pluripotent stem cell-derived primary proprioceptive neurons as Friedreich ataxia cell model (2019) (1)
Evoked motor potentials in genetically proven Friedreich’s ataxia patients (2016) (1)
Corrigendum to "Quantification of chloride channel 2 (CLCN2) gene isoforms in normal versus lesion- and epilepsy-associated brain tissue" [Biochim. Biophys. Acta 1772 (2007) 15-20] (DOI:10.1016/j.bbadis.2006.10.015) (2007) (1)
-1-Progression characteristics in Friedreich’s Ataxia: 4-year analysis of the European Friedreich’s Ataxia Consortium for Translational Studies (EFACTS) (2021) (1)
Localization of DNA probes tightly linked to the Friedreich's ataxia locus by in situ hybridization in a case of pericentric inversion of chromosome 9 (1991) (1)
T.P.2 09 Overcoming the transcription defect in Friedreich ataxia with designed DNA ligands (2006) (1)
Study of beta cells and neurons indicate incretin analogs as potential therapeutics for Friedreich’s ataxia. (S32.005) (2015) (1)
Friedreich's disease. A linkage study in southern and central Italy. (1992) (1)
Real-Time PCR and Linkage Studies to Identify Carriers Presenting HPRT Deleted Gene (2006) (1)
Photothrombosis as a model for post-stroke epilepsy in rodents: does susceptibility to pentylenetetrazole change? (2005) (1)
Characterization of the epilepsy gene DEPDC5 in a mouse embryonic stem cell model. (P4.252) (2015) (1)
Introduction. Idebenone in the treatment of Friedreich ataxia. (2009) (1)
Neurologic Diagnostics in 2035 (2021) (1)
CHAPTER K6 – Animal Models of Friedreich Ataxia (2005) (0)
P.62 Is late-onset type II glycogenosis underdiagnosed in Brussels and Wallonia (Belgium)? (2016) (0)
Oral session 15—Multiple sclerosis (3) (2005) (0)
channels affect channel inactivation Variants of the KCNMB3 regulatory subunit of maxi BK (2016) (0)
Lateonset Friedreich's disease: clinical features andmapping ofmutation totheFRDA locus (1994) (0)
Clinical Trials and Trials Design (2016) (0)
Genetic Recombination Events Which Position the Friedreich Ataxia Locus Proximal to the D 9 S I 5 / D 9 S 5 Linkage Group on Chromosome 9 q (2006) (0)
[Genetics of epilepsy and genetic epilepsy]. (2002) (0)
Cortical processing of tactile novelty detection in Friedreich ataxia (P2. 203) (2017) (0)
Lower urinary tract, bowel and sexual dysfunction in Friedreich’s ataxia (2017) (0)
th Meeting of the Irish Society of Human Genetics , Friday 2 nd (0)
Friedreich ataxia: clinical and genetic aspects (1997) (0)
The Relevance of Rare Genetic Variation of MicroRNAs, Their Biosynthesis Genes and Target Regions in Epilepsy (2018) (0)
Cerebellar atrophy with hypercupremia: a new recessive ataxia (2002) (0)
Risk Factors and Baseline Characteristics (2013) (0)
Genotype-phenotype Correlation in Late-onset Glycogen Storage Disease Type II, Early Diagnosis and Prognostic Determinants (2016) (0)
Chapter 18 – Friedreich Ataxia (2003) (0)
Clinical, neuropathological, and genetic characterization of STUB1 variants in cerebellar ataxias: a frequent cause of predominant cognitive impairment (2020) (0)
Early-onset inherited ataxias (2001) (0)
Abstract 16740: Myocardial Dysfunction in Patients with Friedreich Ataxia, Normal Left Ventricular Ejection Fraction and Mass (2010) (0)
Reply to both Letters to the Editor (2018) (0)
Molecular and clinical characterization of a large cohort of Italian patients with Hereditary Spastic Paraplegia (HSP) (2006) (0)
Nucleic Acids Research (2016) (0)
. Endocrine disorders : clinical aspects (2002) (0)
Nucleic Acids Research (2013) (0)
2018: Year in Review and Message from the Editors to Our Reviewers (2019) (0)
Mutation and Polymorphism Report (1999) (0)
Neurology: Genetics Year in Review (2021) (0)
Books Received (2002) (0)
2016 in Review and Message from the Editors to our Reviewers (2017) (0)
Susceptibility genes in ischemic stroke and intracranial atherosclerosis: clinical and autopsy studies (2009) (0)
Primary proprioceptive neurons from human induced pluripotent stem cells: a cell model for afferent ataxias (2020) (0)
Author response to “Reply to Drug Insight: antioxidant therapy in inherited ataxias” (2008) (0)
Chapter 49 – Friedreich Ataxia (2015) (0)
SUMMARY Drug Insight: antioxidant therapy in inherited ataxias (2008) (0)
Development of a rodent model of post-stroke epilepsy: Preliminary results (2004) (0)
Overcoming frataxin gene silencing in Friedreich's ataxia with small molecules: studies on cellular and animal models (2010) (0)
DNA analysis by Southern blotting and linkage RFLP analysis (5,6). A second approach is based on mRNA analysis by amplification of HPRT cDNA. Samples (2006) (0)
A I.5-MbDeletion in17p I 1.2-p 12IsFrequently Observedin Italian Families withHereditary Neuropathy withLiability to Pressure Palsies (1995) (0)
LINKAGE DISEQUILIBRIUM BETWEEN SPINOCEREBELLAR ATAXIA (SCA1) AND D6S89 LOCI (1993) (0)
Electrophysiologic studies in HNPP with 17p11.2 deletion (1995) (0)
URINARY, BOWEL AND SEXUAL FUNCTION IN PATIENTS WITH FRIEDREICH'S ATAXIA (2015) (0)
Mutations in DEPDC5 : A major cause of familial focal epilepsy (2013) (0)
Chapter 7 Friedreich Ataxia (2007) (0)
Erratum: Localization of the human gene for carnitine palmitoyltransferase to 1p13-p11 by nonradioactive in situ hybridization (Genomics (1992) 13:4 (1372-1374)) (1994) (0)
Periventricular heterotopia (2012) (0)
List of contributors (2020) (0)
Progression Characteristics in Friedreich's Ataxia: A 4-Year Observational Study (2020) (0)
Mutations causing Friedreich ataxia (2008) (0)
O.041 From bench to bedside: new treatments for Friedreich's ataxia (2009) (0)
Use of HPLC Comparative Peptide Mapping in Structure/Function Studies (1987) (0)
Mo-W4:4 ApoE gene promoter polymorphisms as determinant of middle age ischemic stroke (2006) (0)
Faculty Opinions recommendation of Mutations in TTBK2, encoding a kinase implicated in tau phosphorylation, segregate with spinocerebellar ataxia type 11. (2008) (0)
Consensus Paper: Pathological Mechanisms Underlying Neurodegeneration in Spinocerebellar Ataxias (2013) (0)
Evidence of a genetic marker associated with early onset in Friedreich's ataxia (2004) (0)
Effects of hemicerebellectomy on the excitability of the motor cortex (2011) (0)
Personality and Neuropsychological Profiles in Friedreich Ataxia (2017) (0)
Idebenone in the Treatment of Friedreich Ataxia (2009) (0)
Response to CommentaryResponse to Commentary 1: Abnormal Mitochondrial Iron Metabolism in Friedreich Ataxia (2002) (0)
Effects of HDAC inhibitor 106 on frataxin mRNA and protein levels and on histone acetylation in KIKI mice. (2008) (0)
Neural precursor cells: interaction with blood-brain barrier and neuroprotective effect in an animal model of cerebellar degeneration (2009) (0)
FRDA. Neurons and cardiomyocytes derived from induced pluripotent stem cells as a model for mitochondrial defects in Friedreich’s (2013) (0)
An Induced Pluripotent Stem Cell Model for Friedreich's Ataxia (P05.022) (2012) (0)
Corticokinematic coherence is decreased in patients with Friedreich Ataxia and correlates with GAA1 expansion (S5. 002) (2017) (0)
Alterations of mitochondrial biogenesis and alterations of mitochondrial antioxidant defense in Friedreich's ataxia (2011) (0)
A I .5-Mb Deletion in 17p I 1.2-p 1 2 Is Frequently Observed in Italian Families with Hereditary Neuropathy with Liability to Pressure Palsies (2007) (0)
Friedreich ataxia is caused by an intronic gaa triplet repeat expansion (1997) (0)
Isolation of candidate genes of Friedreich`s ataxia on chromosome 9q13 (1994) (0)
IN73-FR-02 Friedreich's ataxia update (2009) (0)
IDENTIFICATION OF A NOVEL GENE IN A FAMILY WITH SEVERE INFANTILE-ONSET EPILEPSY (2012) (0)
IN38-WE-01 Neurogenetics in the new millennium: 1. Ataxias (2009) (0)
Prospective analysis of falls in spinocerebellar ataxias (2012) (0)
Skeletal muscle malic enzymes: A study in Friedreich's disease (1984) (0)
Mutations in DEPDC5 (2013) (0)
Chapter 72 – Friedreich Ataxia (2015) (0)
A rapid method toisolate (GT)n repeats fromyeastartificial chromosomes (1992) (0)
Cortico-kinematic coherence is less sensitive to disease progression than an ataxia score in Friedreich ataxia (2018) (0)
105 Left ventricular twist in patients with Friedreich Ataxia and normal left ventricular ejection fraction and mass (2011) (0)
Proprioceptors-enriched neuronal cultures from induced pluripotent stem cells from Friedreich ataxia patients show altered transcriptomic and proteomic profiles, abnormal neurite extension, and impaired electrophysiological properties (2023) (0)
Cerebral functional connectivity in Friedreich ataxia, a magnetoencephalography study (2018) (0)
Correction: Clinical, neuropathological, and genetic characterization of STUB1 variants in cerebellar ataxias: a frequent cause of predominant cognitive impairment (2020) (0)
VKučinskas-2001-2016 (2016) (0)
The Cerebellum and its Disorders: Friedreich's ataxia (2001) (0)
Bilateral High-Frequency Synchronous Discharges (2016) (0)
2017 Year in Review and Message from the Editors to Our Reviewers (2018) (0)
AtaxiawithVitaminE Deficiency: Refinement ofGenetic Localization andAnalysis ofLinkageDisequilibrium byUsingNew Markersin14Families (1995) (0)
The Cerebellum and its Disorders: Embryology of the cerebellum (2001) (0)
Evidence for myocardial dysfunction in patients with Friedreich's ataxia, normal left ventricular ejection fraction and mass (2011) (0)

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What Schools Are Affiliated With Massimo Pandolfo?

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