| Nome |
# |
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Silence superoxide dismutase 1 (SOD1): a promising therapeutic target for amyotrophic lateral sclerosis (ALS), file dfa8b9a1-ff87-748b-e053-3a05fe0a3a96
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2.244
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Mutations in CYP2U1, DDHD2 and GBA2 genes are rare causes of complicated forms of hereditary spastic paraparesis, file dfa8b995-818e-748b-e053-3a05fe0a3a96
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1.192
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Development of Therapeutics for C9ORF72 ALS/FTD-related disorders, file dfa8b995-774b-748b-e053-3a05fe0a3a96
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1.176
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R-Loops in Motor Neuron Diseases, file dfa8b99b-ff50-748b-e053-3a05fe0a3a96
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1.010
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Insights into disease mechanisms and potential therapeutics for C9orf72-related amyotrophic lateral sclerosis/frontotemporal dementia, file dfa8b9a3-8643-748b-e053-3a05fe0a3a96
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940
|
|
Progranulin plasma levels as potential biomarker for the identification of GRN deletion carriers. A case with atypical onset as clinical amnestic Mild Cognitive Impairment converted to Alzheimer's disease, file dfa8b98e-d93b-748b-e053-3a05fe0a3a96
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887
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|
Variants in KIF1A gene in dominant and sporadic forms of hereditary spastic paraparesis, file dfa8b995-86a3-748b-e053-3a05fe0a3a96
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877
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Direct reprogramming of adult somatic cells into other lineages: past evidence and future perspectives, file dfa8b990-9caa-748b-e053-3a05fe0a3a96
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729
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Mental health and coping strategies in families of children and young adults with muscular dystrophies, file dfa8b9a3-cbb4-748b-e053-3a05fe0a3a96
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722
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Current understanding of and emerging treatment options for spinal muscular atrophy with respiratory distress type 1 (SMARD1), file dfa8b9a1-9552-748b-e053-3a05fe0a3a96
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660
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The Italian limb girdle muscular dystrophy registry : relative frequency, clinical features, and differential diagnosis, file dfa8b995-7828-748b-e053-3a05fe0a3a96
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657
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Beta-lactam antibiotic offers neuroprotection in a spinal muscular atrophy model by multiple mechanisms, file dfa8b996-216f-748b-e053-3a05fe0a3a96
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655
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|
Lactate detection in the brain of growth-restricted fetuses with magnetic resonance spectroscopy, file dfa8b98f-a03b-748b-e053-3a05fe0a3a96
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612
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Assessing mental health in boys with Duchenne muscular dystrophy: Emotional, behavioural and neurodevelopmental profile in an Italian clinical sample, file dfa8b999-2850-748b-e053-3a05fe0a3a96
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610
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|
Noncoding RNAs in Duchenne and Becker muscular dystrophies: role in pathogenesis and future prognostic and therapeutic perspectives, file dfa8b9a2-074e-748b-e053-3a05fe0a3a96
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598
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Subclinical leukodystrophy and infertility in a man with a novel homozygous CLCN2 mutation, file dfa8b995-7c4c-748b-e053-3a05fe0a3a96
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567
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Rs5848 Variant Influences GRN mRNA
Levels in Brain and Peripheral Mononuclear
Cells in Patients with Alzheimer’s Disease, file dfa8b98e-b52d-748b-e053-3a05fe0a3a96
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500
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Preconditioning and Cellular Engineering to Increase the Survival of Transplanted Neural Stem Cells for Motor Neuron Disease Therapy, file dfa8b99c-0574-748b-e053-3a05fe0a3a96
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493
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Functional analysis of novel KCNQ2 and KCNQ3 gene variants found in a large pedigree with benign familial neonatal convulsions (BFNC), file dfa8b998-fd13-748b-e053-3a05fe0a3a96
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462
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A de novo C19orf12 heterozygous mutation in a patient with MPAN, file dfa8b99a-9cf1-748b-e053-3a05fe0a3a96
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451
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Molecular Approaches for the Treatment of Pompe Disease, file dfa8b9a0-50f4-748b-e053-3a05fe0a3a96
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448
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Clinical studies in stem cells transplantation for stroke: a review, file dfa8b991-1cb4-748b-e053-3a05fe0a3a96
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441
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Impairment of brain and muscle energy metabolism detected by magnetic resonance spectroscopy in hereditary spastic paraparesis type 28 patients with DDHD1 mutations, file dfa8b995-4898-748b-e053-3a05fe0a3a96
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439
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The Italian limb girdle muscular dystrophy registry : relative frequency, clinical features, and differential diagnosis, file dfa8b995-8c4f-748b-e053-3a05fe0a3a96
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434
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Loss of the nucleoporin Aladin in central nervous system and fibroblasts of Allgrove Syndrome, file dfa8b9a0-50f5-748b-e053-3a05fe0a3a96
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400
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Anti-sulfatide reactivity in patients with celiac disease, file dfa8b998-6362-748b-e053-3a05fe0a3a96
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345
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Colocalization of ribonuclear inclusions with muscle blind like-proteins in a family with myotonic dystrophy type 2 associated with a short CCTG expansion, file dfa8b990-8366-748b-e053-3a05fe0a3a96
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308
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Neurofascin (NFASC) gene mutation causes autosomal recessive ataxia with demyelinating neuropathy, file dfa8b99d-cab3-748b-e053-3a05fe0a3a96
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298
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Monogenic disorders related to ischemic stroke: a clinical approach, file dfa8b99b-e1b2-748b-e053-3a05fe0a3a96
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279
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Herpes Simplex virus type 2 myeloradiculitis with a pure motor presentationin a liver transplant recipient, file dfa8b9a0-a8da-748b-e053-3a05fe0a3a96
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272
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Human induced pluripotent stem cell models for the study and treatment of Duchenne and Becker muscular dystrophies, file dfa8b99e-fd91-748b-e053-3a05fe0a3a96
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269
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Advances, Challenges, and Perspectives in Translational Stem Cell Therapy for Amyotrophic Lateral Sclerosis, file dfa8b99d-d5ce-748b-e053-3a05fe0a3a96
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265
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Clinical and molecular characterization of a cohort of patients with novel nucleotide alterations of the Dystrophin gene detected by direct sequencing, file dfa8b98f-7e39-748b-e053-3a05fe0a3a96
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263
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Mutations in TMEM230 are rare in autosomal dominant Parkinson's disease, file dfa8b998-7301-748b-e053-3a05fe0a3a96
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259
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Considerations on a mutation in the NOTCH3 gene sparing a cysteine residue: a rare polymorphism rather than a CADASIL variant, file dfa8b991-c3e0-748b-e053-3a05fe0a3a96
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250
|
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Genetic adaptation of the human circadian clock to day-length latitudinal variations and relevance for affective disorders, file dfa8b991-8620-748b-e053-3a05fe0a3a96
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242
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Effects of rituximab in two patients with dysferlin-deficient muscular dystrophy, file dfa8b98f-7217-748b-e053-3a05fe0a3a96
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237
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Expanding the genotypic and phenotypic spectrum of Beta-propeller-associated neurodegeneration (BPAN), file dfa8b9a4-f8bc-748b-e053-3a05fe0a3a96
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232
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Spinal muscular atrophy phenotype is ameliorated in human motor neurons by SMN increase via different novel RNA therapeutic approaches, file dfa8b992-9922-748b-e053-3a05fe0a3a96
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226
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Quantitative muscle strength assessment in Duchenne muscular dystrophy: longitudinal study and correlation with functional measures, file dfa8b990-8755-748b-e053-3a05fe0a3a96
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223
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Alpha1-antichymotrypsin induces TNF-alpha production and NF-kappaB activation in the murine N9 microglial cell line, file dfa8b98e-d93e-748b-e053-3a05fe0a3a96
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212
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Albuminoid genes: evolving at the interface of dispensability and selection, file dfa8b993-dacf-748b-e053-3a05fe0a3a96
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211
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Mitochondrial Dysregulation and Impaired Autophagy in iPSC-Derived Dopaminergic Neurons of Multiple System Atrophy, file dfa8b99c-8f0a-748b-e053-3a05fe0a3a96
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207
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The evolutionary history of genes involved in spoken and written language : Beyond FOXP2, file dfa8b995-7521-748b-e053-3a05fe0a3a96
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204
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A functional variant in ERAP1 predisposes to multiple sclerosis, file dfa8b990-7bf7-748b-e053-3a05fe0a3a96
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201
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Balancing selection is common in the extended MHC region but most alleles with opposite risk profile for autoimmune diseases are neutrally evolving, file dfa8b98f-a8af-748b-e053-3a05fe0a3a96
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199
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The Role of Mitochondria in Neurodegenerative Diseases: the Lesson from Alzheimer’s Disease and Parkinson’s Disease, file dfa8b9a2-e020-748b-e053-3a05fe0a3a96
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194
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Cryptogenic Epileptic Syndromes Related to SCN1A Twelve Novel Mutations Identified, file dfa8b99f-e26e-748b-e053-3a05fe0a3a96
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193
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Genome-wide identification of susceptibility alleles for viral infections through a population genetics approach, file dfa8b98f-6cdb-748b-e053-3a05fe0a3a96
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189
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Key role of SMN/SYNCRIP and RNA-Motif 7 in spinal muscular atrophy: RNA-Seq and motif analysis of human motor neurons, file dfa8b99d-1925-748b-e053-3a05fe0a3a96
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186
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OASes and STING : Adaptive evolution in concert, file dfa8b995-899c-748b-e053-3a05fe0a3a96
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183
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The landscape of human genes involved in the immune response to parasitic worms, file dfa8b98f-7e3e-748b-e053-3a05fe0a3a96
|
182
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|
Nusinersen treatment and cerebrospinal fluid neurofilaments : An explorative study on Spinal Muscular Atrophy type 3 patients, file dfa8b9a1-a5d2-748b-e053-3a05fe0a3a96
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181
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|
Both selective and neutral processes drive GC content evolution in the human genome, file dfa8b98f-7929-748b-e053-3a05fe0a3a96
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179
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Gene therapy rescues disease phenotype in a spinal muscular atrophy with respiratory distress type 1 (SMARD1) mouse model, file dfa8b993-b7d2-748b-e053-3a05fe0a3a96
|
174
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MicroRNA expression analysis identifies a subset of downregulated miRNAs in ALS motor neuron progenitors, file dfa8b99b-ff51-748b-e053-3a05fe0a3a96
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174
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Ancient and recent selective pressures shaped genetic diversity at AIM2-like nucleic acid sensors, file dfa8b991-8a79-748b-e053-3a05fe0a3a96
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173
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Parasites represent a major selective force for interleukin genes and shape the genetic predisposition to autoimmune conditions, file dfa8b992-8639-748b-e053-3a05fe0a3a96
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169
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Clinical reasoning: a 75-year-old man with parkinsonism, mood depression, and weight loss, file dfa8b99c-6cfd-748b-e053-3a05fe0a3a96
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167
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Growing evidence about the relationship between vessel dissection and Scuba diving, file dfa8b990-eefb-748b-e053-3a05fe0a3a96
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162
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Clinical and paraclinical indicators of motor system impairment in hereditary spastic paraplegia : A pilot study, file dfa8b995-9b4a-748b-e053-3a05fe0a3a96
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162
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A complex selection signature at the human AVPR1B gene, file dfa8b98f-8043-748b-e053-3a05fe0a3a96
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161
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Glycogen storage disease type III : A novel Agl knockout mouse model, file dfa8b995-8ff3-748b-e053-3a05fe0a3a96
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160
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Central nervous system involvement in common variable immunodeficiency: A case of acute unilateral optic neuritis in a 26 -year-old Italian Patient, file dfa8b99c-f557-748b-e053-3a05fe0a3a96
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155
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Glucose-free/high-protein diet improves hepatomegaly and exercise intolerance in glycogen storage disease type III mice, file dfa8b99b-cc30-748b-e053-3a05fe0a3a96
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152
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MicroRNAs as regulators of cell death mechanisms in amyotrophic lateral sclerosis, file dfa8b99c-f380-748b-e053-3a05fe0a3a96
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152
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Expanding the clinical spectrum of the mitochondrial mutation A13084T in the ND5 gene, file dfa8b9a4-3efb-748b-e053-3a05fe0a3a96
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150
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SLC25A46 mutations in patients with Parkinson's Disease and optic atrophy, file dfa8b9a1-c2d6-748b-e053-3a05fe0a3a96
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149
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Progranulin gene variability and plasma levels in bipolar disorder and schizophrenia, file dfa8b991-9479-748b-e053-3a05fe0a3a96
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147
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|
The brain is hypothermic in patients with mitochondrial diseases, file dfa8b995-9cac-748b-e053-3a05fe0a3a96
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147
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|
Natural selection at the brush-border : Adaptations to carbohydrate diets in humans and other mammals, file dfa8b995-7e0b-748b-e053-3a05fe0a3a96
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146
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|
Paroxysmal Nocturnal Hemoglobinuria (Pnh) : Brain Mri Ischemic Lesions in Neurologically Asymtomatic Patients, file dfa8b99a-5fa1-748b-e053-3a05fe0a3a96
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146
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Diagnostic and Prognostic Role of Blood and Cerebrospinal Fluid and Blood Neurofilaments in Amyotrophic Lateral Sclerosis: A Review of the Literature, file dfa8b99f-18ab-748b-e053-3a05fe0a3a96
|
144
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|
Morpholino-mediated SOD1 reduction ameliorates an amyotrophic lateral sclerosis disease phenotype, file dfa8b995-93bc-748b-e053-3a05fe0a3a96
|
143
|
|
IPSC-derived neural stem cells act via kinase inhibition to exert neuroprotective effects in spinal muscular atrophy with respiratory distress type 1, file dfa8b993-b59e-748b-e053-3a05fe0a3a96
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137
|
|
ISPD mutations account for a small proportion of Italian Limb Girdle Muscular Dystrophy cases, file dfa8b994-cc32-748b-e053-3a05fe0a3a96
|
137
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|
Synaptotagmin 13 is neuroprotective across motor neuron diseases, file dfa8b9a2-0401-748b-e053-3a05fe0a3a96
|
136
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|
Minimally invasive transplantation of iPSC-derived ALDHhiSSCloVLA4+ neural stem cells effectively improves the phenotype of an amyotrophic lateral sclerosis model, file dfa8b993-b612-748b-e053-3a05fe0a3a96
|
135
|
|
Usefulness of multi-parametric MRI for the investigation of posterior cortical atrophy, file dfa8b995-7a8a-748b-e053-3a05fe0a3a96
|
133
|
|
Glial cells involvement in spinal muscular atrophy: Could SMA be a neuroinflammatory disease?, file dfa8b9a1-f6cc-748b-e053-3a05fe0a3a96
|
133
|
|
An evolutionary analysis of antigen processing and presentation across different timescales reveals pervasive selection, file dfa8b991-84e7-748b-e053-3a05fe0a3a96
|
132
|
|
The signature of long-standing balancing selection at the human defensin β-1 promoter, file dfa8b992-478f-748b-e053-3a05fe0a3a96
|
132
|
|
Reply: DGUOK recessive mutations in patients with CPEO, mitochondrial myopathy, parkinsonism and mtDNA deletions, file dfa8b99a-7359-748b-e053-3a05fe0a3a96
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132
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Limb girdle muscular dystrophy due to LAMA2 gene mutations: new mutations expand the clinical spectrum of a still challenging diagnosis, file dfa8b9a3-d010-748b-e053-3a05fe0a3a96
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131
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Optic neuritis as isolated manifestation of leptomeningeal carcinomatosis : a case report and systematic review of ocular manifestations of neoplastic meningitis, file dfa8b991-d4ed-748b-e053-3a05fe0a3a96
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129
|
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Effect of human skin-derived stem cells on vessel architecture, tumor growth, and tumor invasion in brain tumor animal models, file dfa8b9a0-a19f-748b-e053-3a05fe0a3a96
|
129
|
|
Unravelling Genetic Factors Underlying Corticobasal Syndrome: A Systematic Review, file dfa8b9a5-8463-748b-e053-3a05fe0a3a96
|
127
|
|
IgD multiple myeloma paraproteinemia as a cause of myositis, file dfa8b992-bd28-748b-e053-3a05fe0a3a96
|
125
|
|
Charcot-Marie-Tooth disease type 2F associated with biallelic HSPB1 mutations, file dfa8b9a7-a877-748b-e053-3a05fe0a3a96
|
125
|
|
A novel CCM1 mutation associated with multiple cerebral and vertebral cavernous malformations, file dfa8b991-a4ec-748b-e053-3a05fe0a3a96
|
124
|
|
Stormorken syndrome caused by a p.R304W STIM1 mutation: The first Italian patient and a review of the literature, file dfa8b99d-4201-748b-e053-3a05fe0a3a96
|
124
|
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Brain mitochondria, aging, and Parkinson’s disease, file dfa8b99d-1e53-748b-e053-3a05fe0a3a96
|
123
|
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Can Intestinal Pseudo-Obstruction Drive Recurrent Stroke-Like Episodes in Late-Onset MELAS Syndrome? A Case Report and Review of the Literature, file dfa8b99d-c37c-748b-e053-3a05fe0a3a96
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123
|
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Anti-muSK-positive myasthenia gravis in a patient with parkinsonism and cognitive impairment, file dfa8b992-71fa-748b-e053-3a05fe0a3a96
|
120
|
|
Post-activation brain warming: A 1-H MRS thermometry study, file dfa8b995-7278-748b-e053-3a05fe0a3a96
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120
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|
Bilateral Cavernous Carotid Aneurysms: Atypical Presentation of a Rare Cause of Mass Effect. A Case Report and a Review of the Literature, file dfa8b99b-cc2f-748b-e053-3a05fe0a3a96
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117
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Investigation of new morpholino oligomers to increase survival motor neuron protein levels in spinal muscular atrophy, file dfa8b99a-5163-748b-e053-3a05fe0a3a96
|
116
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Progressive encephalomyelitis with rigidity and myoclonus associated with anti-GlyR antibodies and Hodgkin's lymphoma : A case report, file dfa8b99a-7d42-748b-e053-3a05fe0a3a96
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114
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Dystonia-ataxia syndrome with permanent torsional nystagmus caused by ECHS1 deficiency, file dfa8b9a1-c5dc-748b-e053-3a05fe0a3a96
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111
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Subclinical Leber's hereditary optic neuropathy with pediatric acute spinal cord onset: More than meets the eye, file dfa8b99c-f387-748b-e053-3a05fe0a3a96
|
108
|
| Totale |
31.299 |