D. Calini

发表

On the discovery of subpopulation-specific state transitions from multi-sample multi-condition single-cell RNA sequencing data

Helena L. Crowell, D. Malhotra, M. Robinson, 2019, bioRxiv.

muscat detects subpopulation-specific state transitions from multi-sample multi-condition single-cell transcriptomics data

Helena L. Crowell, D. Malhotra, M. Robinson, 2020, Nature Communications.

NEK1 variants confer susceptibility to amyotrophic lateral sclerosis

Annelot M. Dekker, Robert H. Brown, F. Baas, 2016, Nature Genetics.

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

Timothy A. Miller, Jennifer E. Phillips-Cremins, Lilah M. Besser, 2020, Neuron.

TUBA4A gene analysis in sporadic amyotrophic lateral sclerosis: identification of novel mutations

G. Comi, S. Corti, C. Shaw, 2015, Journal of Neurology.

Cell-type-specific cis-eQTLs in eight human brain cell types identify novel risk genes for psychiatric and neurological disorders

D. Malhotra, V. Menon, P. D. De Jager, 2022, Nature Neuroscience.

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

Timothy A. Miller, Sonja W. Scholz, Jennifer E. Phillips-Cremins, 2020, Neuron.

Analysis of hnRNPA1, A2/B1, and A3 genes in patients with amyotrophic lateral sclerosis

G. Comi, S. Corti, J. Landers, 2013, Neurobiology of Aging.

Screening of the PFN1 gene in sporadic amyotrophic lateral sclerosis and in frontotemporal dementia

G. Comi, S. Corti, J. Landers, 2013, Neurobiology of Aging.

TARDBP mutations in a cohort of Italian patients with Parkinson’s disease and atypical parkinsonisms

D. Calini, N. Ticozzi, C. Tiloca, 2022, Frontiers in Aging Neuroscience.

CellMixS: quantifying and visualizing batch effects in single-cell RNA-seq data

Charlotte Soneson, Dheeraj Malhotra, Mark D Robinson, 2020, Life Science Alliance.

The role of de novo mutations in the development of amyotrophic lateral sclerosis

Annelot M. Dekker, Raymond D. Schellevis, S. Pulit, 2017, Human mutation.

Cell-type specific cis-eQTLs in eight brain cell-types identifies novel risk genes for human brain disorders

D. Malhotra, V. Menon, P. D. De Jager, 2021, medRxiv.

Single nuclei RNAseq stratifies multiple sclerosis patients into three distinct white matter glia responses

D. Malhotra, M. Robinson, J. Bryois, 2022 .

A genome-wide association meta-analysis identifies a novel locus at 17q11.2 associated with sporadic amyotrophic lateral sclerosis.

G. Comi, S. Corti, V. Moskvina, 2014, Human molecular genetics.

A genome-wide association meta-analysis identifies a novel locus at 17 q 11 . 2 associated with sporadic amyotrophic lateral sclerosis

Aleksey, Davide, Moskvina, 2014 .

with sporadic amyotrophic lateral sclerosis

V. Moskvina, A. Shatunov, S. Sorbi, 2013 .

Enrichment of Glial Cells From Human Post-mortem Tissue for Transcriptome and Proteome Analysis Using Immunopanning

J. Bryois, D. Calini, J. Hoozemans, 2021, Frontiers in Cellular Neuroscience.

NEK1 variants confer susceptibility to amyotrophic lateral sclerosis

Annelot M. Dekker, Robert H. Brown, F. Baas, 2016, Nature Genetics.

Elevated Global DNA Methylation Is Not Exclusive to Amyotrophic Lateral Sclerosis and Is Also Observed in Spinocerebellar Ataxia Types 1 and 2

D. Calini, N. Ticozzi, C. Tiloca, 2018, Neurodegenerative Diseases.

A structured evaluation of cryopreservation in generating single cell transcriptomes from cerebrospinal fluid

D. Malhotra, V. Menon, P. D. De Jager, 2021, bioRxiv.

Cell-type-specific cis-eQTLs in eight human brain cell types identify novel risk genes for psychiatric and neurological disorders

D. Malhotra, V. Menon, J. Bryois, 2022, Nature Neuroscience.

Epigenomic priming of immune genes implicates oligodendroglia in multiple sclerosis susceptibility

Howard Y. Chang, D. Malhotra, T. Montine, 2022, Neuron.

The validation of the Italian Edinburgh Cognitive and Behavioural ALS Screen (ECAS)

F. Madotto, D. Calini, S. Zago, 2016, Amyotrophic lateral sclerosis & frontotemporal degeneration.

C9orf72 repeat expansions are restricted to the ALS-FTD spectrum

D. Calini, B. Borroni, A. Padovani, 2014, Neurobiology of Aging.

A blinded international study on the reliability of genetic testing for GGGGCC-repeat expansions in C9orf72 reveals marked differences in results among 14 laboratories

C. van Broeckhoven, C. Shaw, P. Andersen, 2014, Journal of Medical Genetics.

C9ORF72 repeat expansion in a large Italian ALS cohort: evidence of a founder effect

S. Corti, J. Powell, B. Castellotti, 2012, Neurobiology of Aging.

A structured evaluation of cryopreservation in generating single-cell transcriptomes from cerebrospinal fluid

D. Malhotra, V. Menon, P. D. De Jager, 2023, Cell reports methods.

Single nuclei RNAseq stratifies multiple sclerosis patients into distinct white matter glial responses

Mark D. Robinson, J. Bryois, G. Castelo-Branco, 2023, bioRxiv.

Disease-specific selective vulnerability and neuroimmune pathways in dementia revealed by single cell genomics

J. Trojanowski, D. Calini, R. Kawaguchi, 2023, bioRxiv.

NEK1 variants confer susceptibility to amyotrophic lateral sclerosis

Annelot M. Dekker, F. Baas, T. Meitinger, 2016, Nature Genetics.