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Fusco, Carlo
370
results:
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english (349)
german (1)
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1
Identification of Potential Clusters of Signs and Symptoms ..:
Spagnoli, Carlotta
;
Battini, Roberta
;
Manti, Filippo
...
Behavioural Neurology. 2024 (2024) - p. 1-7 , 2024
Link:
https://doi.org/10.1155/..
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2
Clinico-biological refinement of BCL11B-related disorder an..:
Sabbagh, Quentin
;
Haghshenas, Sadegheh
;
Piard, Juliette
...
Genetics in Medicine. 26 (2024) 1 - p. 101007 , 2024
Link:
https://doi.org/10.1016/..
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3
Genetic Epilepsies and Developmental Epileptic Encephalopat..:
Cavirani, Benedetta
;
Spagnoli, Carlotta
;
Caraffi, Stefano Giuseppe
...
International Journal of Molecular Sciences. 25 (2024) 2 - p. 1248 , 2024
Link:
https://doi.org/10.3390/..
?
4
Lessons from two series by physicians and caregivers' self‐..:
Ruault, Valentin
;
Burger, Pauline
;
Gradels‐Hauguel, Johanna
...
Molecular Genetics & Genomic Medicine. 12 (2024) 1 - p. , 2024
Link:
https://doi.org/10.1002/..
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5
A novel TRIP4 Variant Associated with Peripheral Neuropathy..:
Frongia, Ivana
;
Spagnoli, Carlotta
;
Rizzi, Susanna
...
Journal of Neuromuscular Diseases. 11 (2024) 1 - p. 213-219 , 2024
Link:
https://doi.org/10.3233/..
?
6
Heterozygous truncating variant of TAOK1 in a boy with peri..:
Cavalli, Anna
;
Caraffi, Stefano Giuseppe
;
Rizzi, Susanna
...
BMC Medical Genomics. 17 (2024) 1 - p. , 2024
Link:
https://doi.org/10.1186/..
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7
Early-onset dysphagia and severe neurodevelopmental disorde..:
Cesaroni, Carlo Alberto
;
Contrò, Gianluca
;
Spagnoli, Carlotta
...
Neurogenetics. 25 (2024) 3 - p. 287-291 , 2024
Link:
https://doi.org/10.1007/..
?
8
A Novel Family with Demyelinating Charcot–Marie–Tooth Disea..:
Baga, Margherita
;
Rizzi, Susanna
;
Spagnoli, Carlotta
...
Children. 10 (2023) 5 - p. 901 , 2023
Link:
https://doi.org/10.3390/..
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9
Severe Neurodevelopmental Disorder in Autosomal Recessive S..:
Cesaroni, Carlo Alberto
;
Pisanò, Giulia
;
Trimarchi, Gabriele
...
The Cerebellum. , 2023
Link:
https://doi.org/10.1007/..
?
10
Pediatric-Onset Epilepsy and Developmental Epileptic Enceph..:
Spagnoli, Carlotta
;
Fusco, Carlo
;
Pisani, Francesco
International Journal of Molecular Sciences. 24 (2023) 4 - p. 3796 , 2023
Link:
https://doi.org/10.3390/..
?
11
Aromatic L-Amino-Acid Decarboxylase Deficiency Screening by..:
Rizzi, Susanna
;
Spagnoli, Carlotta
;
Bellini, Melissa
...
Genes. 14 (2023) 9 - p. 1828 , 2023
Link:
https://doi.org/10.3390/..
?
12
Posterior Cranial Fossa Malformation and Vascular Dysplasia..:
Cesaroni, Carlo Alberto
;
Napoli, Manuela
;
Spagnoli, Carlotta
...
Canadian Journal of Neurological Sciences / Journal Canadien des Sciences Neurologiques. , 2023
Link:
https://doi.org/10.1017/..
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13
Correction to: Monoallelic KIF1A-related disorders: a multi..:
Della Vecchia, Stefania
;
Tessa, Alessandra
;
Dosi, Claudia
...
Journal of Neurology. 270 (2023) 4 - p. 2345-2346 , 2023
Link:
https://doi.org/10.1007/..
?
14
Case report: Expanding the phenotype of FOXP1-related intel..:
Cesaroni, Carlo Alberto
;
Pollazzon, Marzia
;
Mancini, Cecilia
...
Frontiers in Neurology. 14 (2023) - p. , 2023
Link:
https://doi.org/10.3389/..
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15
Cannabidiol use in patients with Dravet syndrome and Lennox..:
Bonanni, Paolo
;
Ragona, Francesca
;
Fusco, Carlo
...
Expert Opinion on Pharmacotherapy. 24 (2023) 5 - p. 655-663 , 2023
Link:
https://doi.org/10.1080/..
1-15