E-LIB Suche - Ergebnisse für: Aiello, Chiara

1

Expanding the Phenotype of the CACNA1C-Associated Neurologi..:

Cipriano, Lorenzo ; Piscopo, Raffaele ; Aiello, Chiara...
Children. 11 (2024) 5 - p. 541 , 2024

2

Leukoencephalopathy with spot-like calcifications caused by..:

Nicita, Francesco ; Aiello, Chiara ; Carboni, Alessia...
Clinical Neurology and Neurosurgery. 225 (2023) - p. 107584 , 2023

Link: https://doi.org/10.1016/..

3

Type I Interferon Signature in NOTCH1‐Related Leukoencephal..:

Nicita, Francesco ; Travaglini, Lorena ; Matteo, Valentina...
Annals of Neurology. 93 (2023) 5 - p. 1041-1043 , 2023

Link: https://doi.org/10.1002/..

4

"Atypical" Krabbe disease in two siblings harboring biallel..:

Nicita, Francesco ; Stregapede, Fabrizia ; Deodato, Federica...
European Journal of Human Genetics. 30 (2022) 8 - p. 984-988 , 2022

Link: https://doi.org/10.1038/..

5

Superior Cerebellar Atrophy: An Imaging Clue to Diagnose IT..:

Romaniello, Romina ; Pasca, Ludovica ; Panzeri, Elena...
International Journal of Molecular Sciences. 23 (2022) 12 - p. 6723 , 2022

Link: https://doi.org/10.3390/..

6

ABCD1 gene mutation in an Italian family with X-linkedadren..:

Mohn, Angelika ; Polidori, Nella ; Aiello, Chiara...
Endocrinology, Diabetes & Metabolism Case Reports. 2021 (2021) - p. , 2021

Link: https://doi.org/10.1530/..

7

Biallelic mutations in RNF220 cause laminopathies featuring..:

Sferra, Antonella ; Fortugno, Paola ; Motta, Marialetizia...
Brain. 144 (2021) 10 - p. 3020-3035 , 2021

Link: https://doi.org/10.1093/..

8

Expanding the Clinical and Mutational Spectrum of the PLP1-..:

Nicita, Francesco ; Aiello, Chiara ; Vasco, Gessica...
Brain Sciences. 11 (2021) 1 - p. 93 , 2021

Link: https://doi.org/10.3390/..

9

Neuroimaging findings in leukoencephalopathy with calcifica..:

Picchi, Eliseo ; Ferrazzoli, Valentina ; Pizzicannella, Giulia...
Neurological Sciences. 42 (2021) 11 - p. 4471-4487 , 2021

Link: https://doi.org/10.1007/..

10

Broadening the spectrum phenotype of TBCE-related neuron ne..:

Battini, Roberta ; Milone, Roberta ; Aiello, Chiara...
Brain and Development. 43 (2021) 9 - p. 939-944 , 2021

Link: https://doi.org/10.1016/..

11

Expanded phenotype of AARS1-related white matter disease:

Helman, Guy ; Mendes, Marisa I. ; Nicita, Francesco...
Genetics in Medicine. 23 (2021) 12 - p. 2352-2359 , 2021

Link: https://doi.org/10.1038/..

12

The role of the neurologist in the diagnostic route of HSP ..:

Riso, Vittorio ; Rossi, Salvatore ; Nicoletti, Tommaso...
Journal of the Neurological Sciences. 429 (2021) - p. 118282 , 2021

Link: https://doi.org/10.1016/..

13

Spinal cord involvement and paroxysmal events in "Infantile..:

Tonduti, Davide ; Mura, Eleonora ; Masnada, Silvia...
Journal of Human Genetics. 66 (2021) 10 - p. 1035-1037 , 2021

Link: https://doi.org/10.1038/..

14

Application of a Clinical Workflow May Lead to Increased Di..:

Riso, Vittorio ; Rossi, Salvatore ; Nicoletti, Tommaso...
Brain Sciences. 11 (2021) 2 - p. 246 , 2021

Link: https://doi.org/10.3390/..

15

RARS1‐related hypomyelinating leukodystrophy: Expanding the..:

Mendes, Marisa I. ; Green, Lydia M. C. ; Bertini, Enrico...
Annals of Clinical and Translational Neurology. 7 (2019) 1 - p. 83-93 , 2019

Link: https://doi.org/10.1002/..