Pubblicazioni

Di seguito la lista di articoli dei lavori scientifici prodotti direttamente dal centro o con participazioni attive con altri enti.

1. GBA variants influence cognitive status in amyotrophic lateral sclerosis.

2. Developments in the assessment of non-motor disease progression in amyotrophic lateral sclerosis.

3. Association of Variants in the SPTLC1 Gene With Juvenile Amyotrophic Lateral Sclerosis.

4. Decoding distinctive features of plasma extracellular vesicles in amyotrophic lateral sclerosis.

5. Can amyotrophic lateral sclerosis progression really pause? A cohort study using the medical research council scale.

6. Tailoring patients' enrollment in ALS clinical trials: the effect of disease duration and vital capacity cutoffs.

7. Arterial blood gas analysis: base excess and carbonate are predictive of noninvasive ventilation adaptation and survival in amyotrophic lateral sclerosis.

8. Italian adaptation of the Beaumont Behavioral Inventory (BBI): psychometric properties and clinical usability.

9. What is amyotrophic lateral sclerosis prevalence?

10. Nature meets nurture in amyotrophic lateral sclerosis.

11. A novel splice site FUS mutation in a familial ALS case: effects on protein expression.

12. Amyotrophic lateral sclerosis caregiver burden and patients' quality of life during COVID-19 pandemic.

13. Stapedial Reflex: A Possible Novel Biomarker of Early Bulbar Involvement in Amyotrophic Lateral Sclerosis Patients.

14. The heterozygous deletion c.1509_1510delAG in exon 14 of FUS causes an aggressive childhood-onset ALS with cognitive impairment.

15. Genome sequencing analysis identifies new loci associated with Lewy body dementia and provides insights into its genetic architecture.

16. Do ecological factors influence the clinical presentation of amyotrophic lateral sclerosis?

17. A longitudinal study defined circulating microRNAs as reliable biomarkers for disease prognosis and progression in ALS human patients.

18. The interplay among education, brain metabolism, and cognitive impairment suggests a role of cognitive reserve in Amyotrophic Lateral Sclerosis.

19. Neck flexor weakness at diagnosis predicts respiratory impairment in amyotrophic lateral sclerosis.

20. Comorbidity of Cervical Spondylogenic Myelopathy and Amyotrophic Lateral Sclerosis: When Electromyography Makes the Difference in Diagnosis.

21. Pathogenic Huntingtin Repeat Expansions in Patients with Frontotemporal Dementia and Amyotrophic Lateral Sclerosis.

22. Metabolic brain changes across different levels of cognitive impairment in ALS: a 18F-FDG-PET study.

23. Mutational Analysis of Known ALS Genes in an Italian Population-Based Cohort.

24. Brain metabolic correlates of apathy in amyotrophic lateral sclerosis: An 18F-FDG-positron emission tomography study.

25. Differential Neuropsychological Profile of Patients With Amyotrophic Lateral Sclerosis With and Without C9orf72 Mutation.

26. TDP-43 real-time quaking induced conversion reaction optimization and detection of seeding activity in CSF of amyotrophic lateral sclerosis and frontotemporal dementia patients.

27. Brain metabolic changes across King's stages in amyotrophic lateral sclerosis: a 18F-2-fluoro-2-deoxy-D-glucose-positron emission tomography study.

28. Broadening the clinical spectrum of FUS mutations: a case with monomelic amyotrophy with a late progression to amyotrophic lateral sclerosis.

29. Telemedicine for patients with amyotrophic lateral sclerosis during COVID-19 pandemic: an Italian ALS referral center experience.

30. Validation of the Italian version of self-administered ALSFRS-R scale.

31. Exploiting mutual information for the imputation of static and dynamic mixed-type clinical data with an adaptive k-nearest neighbours approach.

32. Acute, Hemorrhagic, Necrotizing Pancreatitis Associated With Riluzole Treatment in a Patient With Amyotrophic Lateral Sclerosis.

33. Clinical features and outcomes of the flail arm and flail leg and pure lower motor neuron MND variants: a multicentre Italian study.

34. Lifetime sport practice and brain metabolism in Amyotrophic Lateral Sclerosis.

35. The role of arterial blood gas analysis (ABG) in amyotrophic lateral sclerosis respiratory monitoring.

36. Decline of cognitive and behavioral functions in amyotrophic lateral sclerosis: a longitudinal study.

37. Analysis of shared common genetic risk between amyotrophic lateral sclerosis and epilepsy.

38. Plateaus in amyotrophic lateral sclerosis progression: results from a population-based cohort.

39. A familial amyotrophic lateral sclerosis pedigree discordant for a novel p.Glu46Asp heterozygous OPTN variant and the p.Ala5Val heterozygous SOD1 missense mutation.

40. G-CSF (filgrastim) treatment for amyotrophic lateral sclerosis: protocol for a phase II randomised, double-blind, placebo-controlled, parallel group, multicentre clinical study (STEMALS-II trial).

41. The transcription factor Nurr1 is upregulated in amyotrophic lateral sclerosis patients and SOD1-G93A mice.

42. Prognostic role of slow vital capacity in amyotrophic lateral sclerosis.

43. ALS phenotype is influenced by age, sex, and genetics: A population-based study.

44. Regional spreading of symptoms at diagnosis as a prognostic marker in amyotrophic lateral sclerosis: a population-based study.

45. Effect modification of the association between total cigarette smoking and ALS risk by intensity, duration and time-since-quitting: Euro-MOTOR.

46. Cognitive impairment across ALS clinical stages in a population-based cohort.

47. Analysis of the GCG repeat length in NIPA1 gene in C9orf72-mediated ALS in a large Italian ALS cohort.

48. Comparative Analysis of C9orf72 and Sporadic Disease in a Large Multicenter ALS Population: The Effect of Male Sex on Survival of C9orf72 Positive Patients.

49. Exome array analysis of rare and low frequency variants in amyotrophic lateral sclerosis.

50. Parkinsonian traits in amyotrophic lateral sclerosis (ALS): a prospective population-based study.

51. Multicentre, population-based, case-control study of particulates, combustion products and amyotrophic lateral sclerosis risk.

52. Validation of the revised classification of cognitive and behavioural impairment in ALS.

53. Interplay between spinal cord and cerebral cortex metabolism in amyotrophic lateral sclerosis.

54. Shared polygenic risk and causal inferences in amyotrophic lateral sclerosis.

55. Early weight loss in amyotrophic lateral sclerosis: outcome relevance and clinical correlates in a population-based cohort.

56. Testing the diagnostic accuracy of [18F]FDG-PET in discriminating spinal- and bulbar-onset amyotrophic lateral sclerosis.

57. Safety and efficacy of nabiximols on spasticity symptoms in patients with motor neuron disease (CANALS): a multicentre, double-blind, randomised, placebo-controlled, phase 2 trial.

58. Correlation between Apolipoprotein E genotype and brain metabolism in amyotrophic lateral sclerosis.

59. A novel p.Ser108LeufsTer15 SOD1 mutation leading to the formation of a premature stop codon in an apparently sporadic ALS patient: insights into the underlying pathomechanisms.

60. Association between alcohol exposure and the risk of amyotrophic lateral sclerosis in the Euro-MOTOR study.

61. The multistep hypothesis of ALS revisited: The role of genetic mutations.

62. Multicenter validation of [18F]-FDG PET and support-vector machine discriminant analysis in automatically classifying patients with amyotrophic lateral sclerosis versus controls.

63. Mice with endogenous TDP-43 mutations exhibit gain of splicing function and characteristics of amyotrophic lateral sclerosis.

64. Multicentre, cross-cultural, population-based, case-control study of physical activity as risk factor for amyotrophic lateral sclerosis.

65. Prognosis for patients with amyotrophic lateral sclerosis: development and validation of a personalised prediction model.

66. Genome-wide Analyses Identify KIF5A as a Novel ALS Gene.

67. Cardiovascular diseases may play a negative role in the prognosis of amyotrophic lateral sclerosis.

68. Spatial epidemiology of amyotrophic lateral sclerosis in Piedmont and Aosta Valley, Italy: a population-based cluster analysis.

69. NADPH oxidases 2 activation in patients with Parkinson's disease.

70. G-quadruplex-binding small molecules ameliorate C9orf72 FTD/ALS pathology in vitro and in vivo.

71. Trauma and amyotrophic lateral sclerosis: a european population-based case-control study from the EURALS consortium.

72. The role of pre-morbid diabetes on developing amyotrophic lateral sclerosis.

73. Comorbidity of dementia with amyotrophic lateral sclerosis (ALS): insights from a large multicenter Italian cohort.

74. Secular Trends of Amyotrophic Lateral Sclerosis: The Piemonte and Valle d'Aosta Register.

75. Influence of arterial hypertension, type 2 diabetes and cardiovascular risk factors on ALS outcome: a population-based study.

76. Decreased Levels of Foldase and Chaperone Proteins Are Associated with an Early-Onset Amyotrophic Lateral Sclerosis.

77. Common polymorphisms of chemokine (C-X3-C motif) receptor 1 gene modify amyotrophic lateral sclerosis outcome: A population-based study.

78. A20 in Multiple Sclerosis and Parkinson's Disease: Clue to a Common Dysregulation of Anti-Inflammatory Pathways?

79. Genetic correlation between amyotrophic lateral sclerosis and schizophrenia.

80. Occupations and amyotrophic lateral sclerosis: are jobs exposed to the general public at higher risk?

81. C9ORF72 hexanucleotide repeat exerts toxicity in a stable, inducible motor neuronal cell model, which is rescued by partial depletion of Pten.

82. Safety and efficacy of ozanezumab in patients with amyotrophic lateral sclerosis: a randomised, double-blind, placebo-controlled, phase 2 trial.

83. Factors predicting survival in ALS: a multicenter Italian study.

84. C9orf72 expansion differentially affects males with spinal onset amyotrophic lateral sclerosis.

85. Influence of cigarette smoking on ALS outcome: a population-based study.

86. Assessing and treating pain in movement disorders, amyotrophic lateral sclerosis, severe acquired brain injury, disorders of consciousness, dementia, oncology and neuroinfectivology. Evidence and recommendations from the Italian Consensus Conference on Pain in Neurorehabilitation.

87. Acoustic reflex patterns in amyotrophic lateral sclerosis.

88. Amyotrophic Lateral Sclerosis Incidence and Previous Prescriptions of Drugs for the Nervous System.

89. Projected increase in amyotrophic lateral sclerosis from 2015 to 2040.

90. Genome-wide association analyses identify new risk variants and the genetic architecture of amyotrophic lateral sclerosis.

91. NEK1 variants confer susceptibility to amyotrophic lateral sclerosis.

92. A PET/CT approach to spinal cord metabolism in amyotrophic lateral sclerosis.

93. Time for a Consensus Conference on pain in neurorehabilitation.

94. Monocytes of patients with amyotrophic lateral sclerosis linked to gene mutations display altered TDP-43 subcellular distribution.

95. TBK1 is associated with ALS and ALS-FTD in Sardinian patients.

96. NADPH oxidase 2 (NOX2) enzyme activation in patients with chronic inflammatory demyelinating polyneuropathy.

97. The Role of APOE in the Occurrence of Frontotemporal Dementia in Amyotrophic Lateral Sclerosis.

98. A large-scale multicentre cerebral diffusion tensor imaging study in amyotrophic lateral sclerosis.

99. ATNX2 is not a regulatory gene in Italian amyotrophic lateral sclerosis patients with C9ORF72 GGGGCC expansion.

100. Metabolic spatial connectivity in amyotrophic lateral sclerosis as revealed by independent component analysis.

101. 18F-FDG-PET correlates of cognitive impairment in ALS.

102. Curable or treatable? The implications of different definitions of illness when treating patients suffering from amyotrophic lateral sclerosis.

103. Long-term follow-up of ultrasound-guided botulinum toxin-A injections for sialorrhea in neurological dysphagia.

104. A Multicentric Prospective Incidence Study of Guillain-Barré Syndrome in Italy. The ITANG Study.

105. C9ORF72 intermediate repeat expansion in patients affected by atypical parkinsonian syndromes or Parkinson's disease complicated by psychosis or dementia in a Sardinian population.

106. ATXN2 is a modifier of phenotype in ALS patients of Sardinian ancestry.

107. Specialist palliative care improves the quality of life in advanced neurodegenerative disorders: NE-PAL, a pilot randomised controlled study.

108. HFE p.H63D polymorphism does not influence ALS phenotype and survival.

109. ALS mutant FUS proteins are recruited into stress granules in induced pluripotent stem cell-derived motoneurons.

110. The role of TREM2 R47H as a risk factor for Alzheimer's disease, frontotemporal lobar degeneration, amyotrophic lateral sclerosis, and Parkinson's disease. CHCH10 mutations in an Italian cohort of familial and sporadic amyotrophic lateral sclerosis patients.

111. CHCH10 mutations in an Italian cohort of familial and sporadic amyotrophic lateral sclerosis patients.

112. Erythropoietin in amyotrophic lateral sclerosis: a multicentre, randomised, double blind, placebo controlled, phase III study.

113. ATXN2 polyQ intermediate repeats are a modifier of ALS survival.

114. Neuroimaging in amyotrophic lateral sclerosis: insights into structural and functional changes.

115. Amyotrophic lateral sclerosis onset after prolonged treatment with a VEGF receptors inhibitor.

116. Analysis of amyotrophic lateral sclerosis as a multistep process: a population-based modelling study.

117. A novel p.E121G heterozygous missense mutation of SOD1 in an apparently sporadic ALS case with a 14-year course.

118. NADPH oxidase (NOX2) activity is a modifier of survival in ALS.

119. Genetic architecture of ALS in Sardinia.

120. Functional pattern of brain FDG-PET in amyotrophic lateral sclerosis.

121. Amyotrophic lateral sclerosis outcome measures and the role of albumin and creatinine: a population-based study.

122. Persistent idiopathic hypoglossal nerve palsy: A motor neuron disease-mimic syndrome?

123. Plasma amino acids patterns and age of onset of amyotrophic lateral sclerosis.

124. The last months of life of people with amyotrophic lateral sclerosis in mechanical invasive ventilation: a qualitative study.

125. Analysis of the KIFAP3 gene in amyotrophic lateral sclerosis: a multicenter survival study.

126. A familial ALS case carrying a novel p.G147C SOD1 heterozygous missense mutation with non-executive cognitive impairment.

127. Cognitive correlates in amyotrophic lateral sclerosis: a population-based study in Italy.

128. Physical activity and amyotrophic lateral sclerosis: a European population-based case-control study.

129. Mutations in the Matrin 3 gene cause familial amyotrophic lateral sclerosis.

130. The metabolic signature of C9ORF72-related ALS: FDG PET comparison with nonmutated patients.

131. Reduced cellular Ca(2+) availability enhances TDP-43 cleavage by apoptotic caspases.

132. De novo nonsense mutation of the FUS gene in an apparently familial amyotrophic lateral sclerosis case.

133. Whole-blood global DNA methylation is increased in amyotrophic lateral sclerosis independently of age of onset.

134. Resting state functional connectivity alterations in primary lateral sclerosis.

135. Genetic counselling in ALS: facts, uncertainties and clinical suggestions.

136. Intrahemispheric and interhemispheric structural network abnormalities in PLS and ALS.

137. The p.A382T TARDBP gene mutation in Sardinian patients affected by Parkinson's disease and other degenerative parkinsonisms.

138. Risk of Guillain-Barré syndrome after 2010-2011 influenza vaccination.

139. Pathogenic VCP mutations induce mitochondrial uncoupling and reduced ATP levels.

140. Randomized double-blind placebo-controlled trial of acetyl-L-carnitine for ALS.

141. Extensive genetics of ALS: a population-based study in Italy.

142. SQSTM1 mutations in frontotemporal lobar degeneration and amyotrophic lateral sclerosis.

143. UNC13A influences survival in Italian amyotrophic lateral sclerosis patients: a population-based study.

144. Amyotrophic lateral sclerosis/frontotemporal dementia with predominant manifestations of obsessive-compulsive disorder associated to GGGGCC expansion of the c9orf72 gene.

145. Replication of association of CHRNA4 rare variants with sporadic amyotrophic lateral sclerosis: the Italian multicentre study.

146. An ALS case with a novel D90N-SOD1 heterozygous missense mutation.

147. Valosin-containing protein (VCP) mutations in sporadic amyotrophic lateral sclerosis.

148. ALS/FTD phenotype in two Sardinian families carrying both C9ORF72 and TARDBP mutations.

149. Trauma and amyotrophic lateral sclerosis: a case-control study from a population-based registry.

150. Neurobehavioral dysfunction in ALS has a negative effect on outcome and use of PEG and NIV.

151. C9ORF72 hexanucleotide repeat expansions in the Italian sporadic ALS population.

152. Frequency of the C9orf72 hexanucleotide repeat expansion in patients with amyotrophic lateral sclerosis and frontotemporal dementia: a cross-sectional study.

153. Clinical characteristics of patients with familial amyotrophic lateral sclerosis carrying the pathogenic GGGGCC hexanucleotide repeat expansion of C9ORF72.

154. A distinct MR imaging phenotype in amyotrophic lateral sclerosis: correlation between T1 magnetization transfer contrast hyperintensity along the corticospinal tract and diffusion tensor imaging analysis.

155. Brain hypermetabolism in amyotrophic lateral sclerosis: a FDG PET study in ALS of spinal and bulbar onset.

156. Non-invasive ventilation in amyotrophic lateral sclerosis: a 10 year population based study.

157. Pain in amyotrophic lateral sclerosis: a population-based controlled study.

158. ALS clinical trials: do enrolled patients accurately represent the ALS population?

159. A hexanucleotide repeat expansion in C9ORF72 is the cause of chromosome 9p21-linked ALS-FTD.

160. Cognitive screening in patients with amyotrophic lateral sclerosis in early stages.

161. A patient carrying a homozygous p.A382T TARDBP missense mutation shows a syndrome including ALS, extrapyramidal symptoms, and FTD.

162. Prospective epidemiological registers: a valuable tool for uncovering ALS pathogenesis.

163. Phenotypic heterogeneity of amyotrophic lateral sclerosis: a population based study.

164. Religiousness is positively associated with quality of life of ALS caregivers.

165. Monomelic amyotrophy is not always benign: a case report.

166. Repeated courses of granulocyte colony-stimulating factor in amyotrophic lateral sclerosis: clinical and biological results from a prospective multicenter study.

167. Large proportion of amyotrophic lateral sclerosis cases in Sardinia due to a single founder mutation of the TARDBP gene.

168. Exome sequencing reveals VCP mutations as a cause of familial ALS.

169. Cytoplasmic accumulation of TDP-43 in circulating lymphomonocytes of ALS patients with and without TARDBP mutations.

170. Lithium carbonate in amyotrophic lateral sclerosis: lack of efficacy in a dose-finding trial.

171. The epidemiology and treatment of ALS: focus on the heterogeneity of the disease and critical appraisal of therapeutic trials.

172. Amyotrophic lateral sclerosis-frontotemporal lobar dementia in 3 families with p.Ala382Thr TARDBP mutations.

173. Tracheostomy in amyotrophic lateral sclerosis: a 10-year population-based study in Italy.

174. A de novo missense mutation of the FUS gene in a "true" sporadic ALS case.

175. Kinesin-associated protein 3 (KIFAP3) has no effect on survival in a population-based cohort of ALS patients.

176. Involvement of immune response in the pathogenesis of amyotrophic lateral sclerosis: a therapeutic opportunity?

177. Neurobehavioral symptoms in ALS are negatively related to caregivers' burden and quality of life.

178. FUS mutations in sporadic amyotrophic lateral sclerosis.

179. Amyotrophic lateral sclerosis mimic syndrome due to a dorsal spinal cord neurofibroma.

180. Prognostic factors in ALS: A critical review.

181. Neuropathology of olfactory ensheathing cell transplantation into the brain of two amyotrophic lateral sclerosis (ALS) patients.

182. Lower serum lipid levels are related to respiratory impairment in patients with ALS.

183. Consistent bone marrow-derived cell mobilization following repeated short courses of granulocyte-colony-stimulating factor in patients with amyotrophic lateral sclerosis: results from a multicenter prospective trial. 

184. Comorbidity between CIDP and diabetes mellitus: only a matter of chance?

185. Two Italian kindreds with familial amyotrophic lateral sclerosis due to FUS mutation.

186. ALS in Italian professional soccer players: the risk is still present and could be soccer-specific.

187. Epidemiology of ALS in Italy: a 10-year prospective population-based study.

188. A two-stage genome-wide association study of sporadic amyotrophic lateral sclerosis.

189. Anxiety undermines quality of life in ALS patients and caregivers.

190. The rare G93D mutation causes a slowly progressing lower motor neuron disease.

191. Prevalence of SOD1 mutations in the Italian ALS population.

192. ALS patients and caregivers communication preferences and information seeking behaviour.

193. Idiopathic chronic inflammatory demyelinating polyneuropathy: an epidemiological study in Italy.

194. A longitudinal study on quality of life and depression in ALS patient-caregiver couples.

195. HFE H63D polymorphism is increased in patients with amyotrophic lateral sclerosis of Italian origin.

196. Caregiver time use in ALS.

197. Positive effects of tertiary centres for amyotrophic lateral sclerosis on outcome and use of hospital facilities.

198. The IVS1 +319 t>a of SOD1 gene is not an ALS causing mutation.

199. Caregiver burden and patients' perception of being a burden in ALS.

200. A cross sectional study on determinants of quality of life in ALS.