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European Journal of Paediatric Neurology : EJPN : Official Journal of the European Paediatric Neurology Society
|
February 4, 2018
The relevance of gene panels in movement disorders diagnosis: A lab perspective
Chiara Reale, Celeste Panteghini, Miryam Carecchio, et al.
Movement Disorders Clinical Practice
|
January 10, 2022
Neurodevelopmental Disorder and Late-Onset Degenerative Parkinsonism in a Patient with a <i>WDR45</i> Defect
Filippo Manti, Celeste Panteghini, Barbara Garavaglia, et al.
Journal of Neuroscience Research
|
September 9, 2021
Genetics, sex, and gender
Chiara Reale, Federica Invernizzi, Celeste Panteghini, et al.
Journal of Child Neurology
|
May 30, 2014
A case of infantile neuroaxonal dystrophy of neonatal onset
Carlo Fusco, Daniele Frattini, Celeste Panteghini, et al.
Brain & Development
|
May 8, 2014
Downbeat nystagmus as the presenting symptom of infantile neuroaxonal dystrophy: a case report
Daniele Frattini, Nardo Nardocci, Rosario Pascarella, et al.
Neurology
|
July 28, 2017
Thiamine-responsive disease due to mutation of <i>tpk1</i>: Importance of avoiding misdiagnosis
Federica Invernizzi, Celeste Panteghini, Luisa Chiapparini, et al.
Parkinsonism & Related Disorders
|
November 10, 2023
Sex distribution and classification of GBA1 variants in an Italian cohort of Parkinson's disease patients analyzed over the last seventeen years
Celeste Panteghini, Chiara Reale, Isabel Colangelo, et al.
Parkinsonism & Related Disorders
|
January 4, 2016
Novel GNAL mutation with intra-familial clinical heterogeneity: Expanding the phenotype
Miryam Carecchio, Celeste Panteghini, Chiara Reale, 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.
Movement Disorders Clinical Practice
|
May 19, 2023
Two Cases of <i>TMEM151A</i>-Associated Paroxysmal Dyskinesia in a Single-Center Series of PRRT2-Negative Patients
Sara Satolli, Federica Invernizzi, Federica Rachele Danti, et al.
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Search research articles
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Showing results (1-10 of 48) with videos related to
Sort By:
Page
of 5
European Journal of Paediatric Neurology : EJPN : Official Journal of the European Paediatric Neurology Society
|
February 4, 2018
The relevance of gene panels in movement disorders diagnosis: A lab perspective
Chiara Reale, Celeste Panteghini, Miryam Carecchio, et al.
Movement Disorders Clinical Practice
|
January 10, 2022
Neurodevelopmental Disorder and Late-Onset Degenerative Parkinsonism in a Patient with a <i>WDR45</i> Defect
Filippo Manti, Celeste Panteghini, Barbara Garavaglia, et al.
Journal of Neuroscience Research
|
September 9, 2021
Genetics, sex, and gender
Chiara Reale, Federica Invernizzi, Celeste Panteghini, et al.
Journal of Child Neurology
|
May 30, 2014
A case of infantile neuroaxonal dystrophy of neonatal onset
Carlo Fusco, Daniele Frattini, Celeste Panteghini, et al.
Brain & Development
|
May 8, 2014
Downbeat nystagmus as the presenting symptom of infantile neuroaxonal dystrophy: a case report
Daniele Frattini, Nardo Nardocci, Rosario Pascarella, et al.
Neurology
|
July 28, 2017
Thiamine-responsive disease due to mutation of <i>tpk1</i>: Importance of avoiding misdiagnosis
Federica Invernizzi, Celeste Panteghini, Luisa Chiapparini, et al.
Parkinsonism & Related Disorders
|
November 10, 2023
Sex distribution and classification of GBA1 variants in an Italian cohort of Parkinson's disease patients analyzed over the last seventeen years
Celeste Panteghini, Chiara Reale, Isabel Colangelo, et al.
Parkinsonism & Related Disorders
|
January 4, 2016
Novel GNAL mutation with intra-familial clinical heterogeneity: Expanding the phenotype
Miryam Carecchio, Celeste Panteghini, Chiara Reale, 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.
Movement Disorders Clinical Practice
|
May 19, 2023
Two Cases of <i>TMEM151A</i>-Associated Paroxysmal Dyskinesia in a Single-Center Series of PRRT2-Negative Patients
Sara Satolli, Federica Invernizzi, Federica Rachele Danti, et al.
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of 5