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European Journal of Medical Genetics
|
June 23, 2021
Further delineation of PIGB-related early infantile epileptic encephalopathy
Silvia Schiavoni, Carlotta Spagnoli, Susanna Rizzi, et al.
Journal of Neurology
|
January 26, 2017
Long-term follow-up in spastic paraplegia due to SPG56/CYP2U1: age-dependency rather than genetic variability?
Alessandro Iodice, Celeste Panteghini, Carlotta Spagnoli, et al.
Pediatric Research
|
May 15, 2012
Neonatal seizures and postneonatal epilepsy: a 7-y follow-up study
Francesco Pisani, Benedetta Piccolo, Gaetano Cantalupo, et al.
Brain & Development
|
September 9, 2009
Hereditary spastic paraplegia and axonal motor neuropathy caused by a novel SPG3A de novo mutation
Carlo Fusco, Daniele Frattini, Enrico Farnetti, et al.
Brain & Development
|
January 4, 2016
Letter to the Editor
Francesco Pisani, Benedetta Piccolo, Gaetano Cantalupo, et al.
Frontiers in Pediatrics
|
April 20, 2026
Paroxysmal neurological spells in TANGO2 deficiency disorder: a case report and a scoping review
Emanuela Claudia Turco, Giulia PisanĂ², Silvia Carestiato, et al.
Journal of Child Neurology
|
January 8, 2011
The homozygous ganglioside-induced differentiation-associated protein 1 mutation c.373C > T causes a very early-onset neuropathy: case report and literature review
Carlo Fusco, Valentina Ucchino, Giovanni Barbon, et al.
Parkinsonism & Related Disorders
|
September 12, 2022
Long-term neurological and psychiatric outcomes in patients with aromatic l-amino acid decarboxylase deficiency
Filippo Manti, Mario Mastrangelo, Roberta Battini, et al.
Journal of Clinical Neuroscience : Official Journal of the Neurosurgical Society of Australasia
|
May 11, 2020
Long-term follow-up in infantile-onset SCAR18: A case report
Alessandro Iodice, Carlotta Spagnoli, Margherita Cangini, et al.
American Journal of Medical Genetics. Part A
|
November 15, 2017
"Minimal" holoprosencephaly in a 14q deletion syndrome patient
Elvio Della Giustina, Alessandro Iodice, Carlotta Spagnoli, et al.
Page
of 15
Search research articles
Search
Showing results (71-80 of 149) with videos related to
Sort By:
Page
of 15
European Journal of Medical Genetics
|
June 23, 2021
Further delineation of PIGB-related early infantile epileptic encephalopathy
Silvia Schiavoni, Carlotta Spagnoli, Susanna Rizzi, et al.
Journal of Neurology
|
January 26, 2017
Long-term follow-up in spastic paraplegia due to SPG56/CYP2U1: age-dependency rather than genetic variability?
Alessandro Iodice, Celeste Panteghini, Carlotta Spagnoli, et al.
Pediatric Research
|
May 15, 2012
Neonatal seizures and postneonatal epilepsy: a 7-y follow-up study
Francesco Pisani, Benedetta Piccolo, Gaetano Cantalupo, et al.
Brain & Development
|
September 9, 2009
Hereditary spastic paraplegia and axonal motor neuropathy caused by a novel SPG3A de novo mutation
Carlo Fusco, Daniele Frattini, Enrico Farnetti, et al.
Brain & Development
|
January 4, 2016
Letter to the Editor
Francesco Pisani, Benedetta Piccolo, Gaetano Cantalupo, et al.
Frontiers in Pediatrics
|
April 20, 2026
Paroxysmal neurological spells in TANGO2 deficiency disorder: a case report and a scoping review
Emanuela Claudia Turco, Giulia PisanĂ², Silvia Carestiato, et al.
Journal of Child Neurology
|
January 8, 2011
The homozygous ganglioside-induced differentiation-associated protein 1 mutation c.373C > T causes a very early-onset neuropathy: case report and literature review
Carlo Fusco, Valentina Ucchino, Giovanni Barbon, et al.
Parkinsonism & Related Disorders
|
September 12, 2022
Long-term neurological and psychiatric outcomes in patients with aromatic l-amino acid decarboxylase deficiency
Filippo Manti, Mario Mastrangelo, Roberta Battini, et al.
Journal of Clinical Neuroscience : Official Journal of the Neurosurgical Society of Australasia
|
May 11, 2020
Long-term follow-up in infantile-onset SCAR18: A case report
Alessandro Iodice, Carlotta Spagnoli, Margherita Cangini, et al.
American Journal of Medical Genetics. Part A
|
November 15, 2017
"Minimal" holoprosencephaly in a 14q deletion syndrome patient
Elvio Della Giustina, Alessandro Iodice, Carlotta Spagnoli, et al.
Page
of 15