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Rizzi, Susanna
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1

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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2

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/..
 
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3

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/..
 
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4

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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5

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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6

Tick-Borne Encephalitis in a 6-Year-Old Patient: A Case Rep..:

Cesaroni, Carlo Alberto ; Frattini, Daniele ; Lecis, Marco...
The Neurohospitalist.  14 (2023)  1 - p. 64-68 , 2023
Link: https://doi.org/10.1177/..
 
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7

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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8

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/..
 
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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/..
 
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10

Tolosa-Hunt syndrome and recurrent painful ophthalmoplegic ..:

Frattini, Daniele ; Iodice, Alessandro ; Spagnoli, Carlotta...
Italian Journal of Pediatrics.  49 (2023)  1 - p. , 2023
Link: https://doi.org/10.1186/..
 
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11

Clinical Features in Aromatic L-Amino Acid Decarboxylase (A..:

Rizzi, Susanna ; Spagnoli, Carlotta ; Frattini, Daniele...
Behavioural Neurology.  2022 (2022)  - p. 1-7 , 2022
Link: https://doi.org/10.1155/..
 
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12

Novel CTNNB1 variant leading to neurodevelopmental disorder..:

Spagnoli, Carlotta ; Salerno, Grazia G. ; Rizzi, Susanna...
American Journal of Medical Genetics Part A.  188 (2022)  10 - p. 3118-3120 , 2022
Link: https://doi.org/10.1002/..
 
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13

Beneficial effects of the ketogenic diet on drug‐resistant ..:

Schiavoni, Silvia ; Spagnoli, Carlotta ; Rizzi, Susanna...
Epileptic Disorders.  23 (2021)  5 - p. 739-743 , 2021
Link: https://doi.org/10.1684/..
 
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14

Further delineation of PIGB-related early infantile epilept..:

Schiavoni, Silvia ; Spagnoli, Carlotta ; Rizzi, Susanna...
European Journal of Medical Genetics.  64 (2021)  10 - p. 104268 , 2021
Link: https://doi.org/10.1016/..
 
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15

Infantile-Onset Charcot–Marie–Tooth Disease With Pyramidal ..:

Frongia, Ivana ; Rizzi, Susanna ; Baga, Margherita...
Frontiers in Neurology.  12 (2021)  - p. , 2021
Link: https://doi.org/10.3389/..
 
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