E-LIB Suche - Ergebnisse für: Traverso, Monica

1

Expanding the phenotype of UPF3B‐related disorder: Case rep..:

Romano, Ferruccio ; Haanpää, Maria K. ; Pomianowski, Pawel...
American Journal of Medical Genetics Part A. 194 (2024) 6 - p. , 2024

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

2

DAG1 haploinsufficiency is associated with sporadic and fam..:

Traverso, Monica ; Baratto, Serena ; Iacomino, Michele...
European Journal of Human Genetics. , 2024

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

3

Corrigendum to "Dramatic effect of levetiracetam in early-o..:

Dilena, Robertino ; Striano, Pasquale ; Traverso, Monica...
Brain and Development. 46 (2024) 2 - p. 124 , 2024

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

4

Generation of induced pluripotent stem cell lines from a pa..:

Conteduca, Giuseppina ; Baldo, Chiara ; Arado, Alessia...
Stem Cell Research. 66 (2023) - p. 103007 , 2023

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

5

Moyamoya Vasculopathy in Neurofibromatosis Type 1 Pediatric..:

Ognibene, Marzia ; Scala, Marcello ; Iacomino, Michele...
Cancers. 15 (2023) 6 - p. 1916 , 2023

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

6

Refining the electroclinical spectrum of NPRL3‐related epil..:

Dainelli, Alice ; Iacomino, Michele ; Rossato, Sara...
Epilepsia Open. 8 (2023) 4 - p. 1314-1330 , 2023

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

7

Case report: Revascularization failure in NF1-related moyam..:

Chelleri, Cristina ; Scala, Marcello ; De Marco, Patrizia...
Frontiers in Pediatrics. 11 (2023) - p. , 2023

Link: https://doi.org/10.3389/..

8

Underlying Inborn Errors of Immunity in Patients With Evans..:

Miano, Maurizio ; Guardo, Daniela ; Grossi, Alice...
Frontiers in Immunology. 13 (2022) - p. , 2022

Link: https://doi.org/10.3389/..

9

Vesicular Glutamate Release from Feeder-FreehiPSC-Derived N..:

Baldassari, Simona ; Cervetto, Chiara ; Amato, Sarah...
International Journal of Molecular Sciences. 23 (2022) 18 - p. 10545 , 2022

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

10

The SPTLC1 p.S331 mutation bridges sensory neuropathy and m..:

Fiorillo, Chiara ; Capodivento, Giovanna ; Geroldi, Alessandro...
Neuropathology and Applied Neurobiology. 48 (2022) 7 - p. , 2022

Link: https://doi.org/10.1111/..

11

A new case of TRIM32/ASTN2 deletions confirm the associatio..:

Bencivenga, Roberta ; Traverso, Monica ; Giaquinto, Emanuele...
Journal of the Neurological Sciences. 429 (2021) - p. 118393 , 2021

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

12

Biallelic PI4KA variants cause neurological, intestinal and..:

Salter, Claire G ; Cai, Yiying ; Lo, Bernice...
Brain. 144 (2021) 12 - p. 3597-3610 , 2021

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

13

Muscle inflammatory pattern in alpha- and gamma-sarcoglycan..:

Panicucci, Chiara ; Baratto, Serena ; Raffaghello, Lizzia...
Clinical Neuropathology. 40 (2021) 11 - p. 310-318 , 2021

Link: https://doi.org/10.5414/..

14

Genotype-Phenotype Correlations in Neurofibromatosis Type 1..:

Scala, Marcello ; Schiavetti, Irene ; Madia, Francesca...
Cancers. 13 (2021) 8 - p. 1879 , 2021

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

15

An integrated approach to the evaluation of patients with a..:

Gemelli, Chiara ; Traverso, Monica ; Trevisan, Lucia...
Muscle & Nerve. 65 (2021) 1 - p. 96-104 , 2021

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