Suchergebnisse - "Gagliardi, Delia"

PubPharm (75)

1

Early spinal muscular atrophy treatment following newborn screening : A 20-month review of the first Italian regional experience

enthalten in: Annals of clinical and translational neurology | 2024

von Gagliardi, D. | Canzio, E. | Orsini, P. | +13

2

Adaptive Long-Read Sequencing Reveals GGC Repeat Expansion in ZFHX3 Associated with Spinocerebellar Ataxia Type 4

enthalten in: Movement disorders : official journal of the Movement Disorder Society | 2024

von Chen, Z. | Gustavsson, E. | Macpherson, H. | +22

3

A phenome-wide association study of methylated GC-rich repeats identifies a GCC repeat expansion inAFF3as a significant cause of intellectual disability

enthalten in: bioRxiv.org | 2023

von Jadhav, B. | Garg, P. | van Vugt, J. | +18

4

Genomic and transcriptomic advances in amyotrophic lateral sclerosis

enthalten in: Ageing research reviews | 2023

von Rizzuti, M. | Sali, L. | Melzi, V. | +12

5

A phenome-wide association study of methylated GC-rich repeats identifies a GCC repeat expansion in AFF3 as a significant cause of intellectual disability

enthalten in: medRxiv : the preprint server for health sciences | 2023

von Jadhav, B. | Garg, P. | van Vugt, J. | +20

6

Regional spreading pattern is associated with clinical phenotype in amyotrophic lateral sclerosis

enthalten in: Brain : a journal of neurology | 2023

von Maranzano, A. | Verde, F. | Colombo, E. | +11

7

Multi-omics profiling of CSF from spinal muscular atrophy type 3 patients after nusinersen treatment : a 2-year follow-up multicenter retrospective study

enthalten in: Cellular and molecular life sciences : CMLS | 2023

von Faravelli, I. | Gagliardi, D. | Abati, E. | +15

8

Multi-omics profiling of CSF from spinal muscular atrophy type 3 patients after nusinersen treatment: a 2-year follow-up multicenter retrospective study

enthalten in: Cellular and molecular life sciences | 2023

von Faravelli, I. | Gagliardi, D. | Abati, E. | +15

9

Multi-omics profiling of CSF from spinal muscular atrophy type 3 patients after nusinersen treatment: a 2-year follow-up multicenter retrospective study

enthalten in: Cellular and molecular life sciences | 2023

von Faravelli, I. | Gagliardi, D. | Abati, E. | +15

10

POPULATION FREQUENCY OF REPEAT EXPANSIONS INDICATES INCREASED DISEASE PREVALENCE ESTIMATES ACROSS DIFFERENT POPULATIONS

enthalten in: bioRxiv.org | 2023

von Ibañez, K. | Jadhav, B. | Facchini, S. | +16

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