E-LIB Suche - Ergebnisse für: Valente, Enza Maria

1

Cerebellar Heterotopia: Broadening the Neuroradiological Sp..:

Carrara, Adelaide ; Mangiarotti, Camilla ; Pasca, Ludovica...
The Cerebellum. , 2024

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

2

LZTFL1, a rare cause of Bardet–Biedl syndrome: A new patien..:

Gana, Simone ; Di Biagio, Marta ; Carraro, Laura...
American Journal of Medical Genetics Part A. , 2024

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

3

Joubert syndrome and hydrocephalus: Further expanding the p..:

Gana, Simone ; Valente, Enza Maria
Developmental Medicine & Child Neurology. 66 (2024) 7 - p. 834-835 , 2024

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

4

Joubert syndrome-derived induced pluripotent stem cells sho..:

De Mori, Roberta ; Tardivo, Silvia ; Pollara, Lidia...
Cell and Tissue Research. 396 (2024) 2 - p. 255-267 , 2024

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

5

Heterozygous APTX mutation associated with atypical multipl..:

Imarisio, Alberto ; Pilotto, Andrea ; Lupini, Alessandro...
Parkinsonism & Related Disorders. 123 (2024) - p. 106943 , 2024

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

6

Parkin mRNA Expression Levels in Peripheral Blood Mononucle..:

Papagiannakis, Nikolaos ; Liu, Hui ; Koros, Christos...
Movement Disorders. 39 (2024) 4 - p. 715-722 , 2024

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

7

Novel molecular, structural and clinical findings in an Ita..:

Lecca, Mauro ; Mauri, Lucia ; Gana, Simone...
Clinical Genetics. , 2024

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

8

Feasibility and Efficacy of a Virtual Reality Social Predic..:

Butti, Niccolò ; Biffi, Emilia ; Romaniello, Romina...
Journal of Autism and Developmental Disorders. , 2024

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

9

Glycogen storage disease type V: a still under-recognized c..:

Ravaglia, Sabrina ; Gana, Simone ; Valente, Enza Maria
Pediatric Research. , 2024

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

10

Paroxysmal Dystonic Posturing Mimicking Nocturnal Leg Cramp..:

Prato, Adriana ; Cirnigliaro, Lara ; Maugeri, Federica...
Journal of Clinical Medicine. 13 (2024) 4 - p. 1109 , 2024

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

11

Cerebellar heterotopia in an 11‐year‐old child with KDM6B‐r..:

Politano, Davide ; D'Abrusco, Fulvio ; Pasca, Ludovica...
American Journal of Medical Genetics Part A. 194 (2024) 6 - p. , 2024

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

12

Functional Study of SNCA p.V15A Variant: Further Linking α‐..:

Avenali, Micol ; Cerri, Silvia ; Palmieri, Ilaria...
Movement Disorders. 39 (2024) 6 - p. 1060-1065 , 2024

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

13

Blood D-serine levels correlate with aging and dopaminergic..:

Imarisio, Alberto ; Yahyavi, Isar ; Avenali, Micol...
Neurobiology of Disease. 192 (2024) - p. 106413 , 2024

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

14

The genetic spectrum of congenital ocular motor apraxia typ..:

Schröder, Simone ; Yigit, Gökhan ; Li, Yun...
Orphanet Journal of Rare Diseases. 18 (2023) 1 - p. , 2023

Link: https://doi.org/10.1186/..

15

Visual function in children with Joubert syndrome:

Morelli, Federica ; Toni, Federico ; Saligari, Elena...
Developmental Medicine & Child Neurology. 66 (2023) 3 - p. 379-388 , 2023

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