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Brain & Development
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February 4, 2018
ATP1A3-related epileptic encephalopathy responding to ketogenic diet
Tommaso Schirinzi, Federica Graziola, Raffaella Cusmai, et al.
Genes
|
March 3, 2021
Two Italian Patients with <i>ELOVL4</i>-Related Neuro-Ichthyosis: Expanding the Genotypic and Phenotypic Spectrum and Ultrastructural Characterization
Andrea Diociaiuti, Diego Martinelli, Francesco Nicita, et al.
Clinical Genetics
|
May 9, 2019
Heterozygous missense variants of SPTBN2 are a frequent cause of congenital cerebellar ataxia
Francesco Nicita, Marta Nardella, Emanuele Bellacchio, et al.
Plos One
|
April 8, 2016
Mean Platelet Volume, Vitamin D and C Reactive Protein Levels in Normal Weight Children with Primary Snoring and Obstructive Sleep Apnea Syndrome
Anna Maria Zicari, Francesca Occasi, Federica Di Mauro, et al.
Child'S Nervous System : Chns : Official Journal of the International Society for Pediatric Neurosurgery
|
October 30, 2008
Two siblings with a homozygous MTHFR C677T (G80A-RFC1) mutation and stroke
Massimo Barbagallo, Piero Pavone, Gemma Incorpora, et al.
Epilepsia
|
May 13, 2014
Seizures in fetal alcohol spectrum disorders: evaluation of clinical, electroencephalographic, and neuroradiologic features in a pediatric case series
Francesco Nicita, Alberto Verrotti, Dario Pruna, et al.
Cerebellum (London, England)
|
September 23, 2024
De Novo GRID2 Variant as a Cause of Ataxia with Oculomotor Apraxia and Alpha-Fetoprotein Elevation
Jacopo Sartorelli, Lorena Travaglini, Vito Luigi Colona, et al.
Muscle & Nerve
|
August 9, 2021
Age-related sensory neuropathy in patients with spinal muscular atrophy type 1
Stefano Pro, Alberto Eugenio Tozzi, Adele D'Amico, et al.
Seizure
|
September 16, 2011
The genetics of monogenic idiopathic epilepsies and epileptic encephalopathies
Francesco Nicita, Paola De Liso, Federica Rachele Danti, et al.
Clinical Genetics
|
November 10, 2019
Hereditary spastic paraplegia is a novel phenotype for germline de novo ATP1A1 mutation
Fabrizia Stregapede, Lorena Travaglini, Adriana P Rebelo, et al.
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of 12
Search research articles
Search
Showing results (51-60 of 120) with videos related to
Sort By:
Page
of 12
Brain & Development
|
February 4, 2018
ATP1A3-related epileptic encephalopathy responding to ketogenic diet
Tommaso Schirinzi, Federica Graziola, Raffaella Cusmai, et al.
Genes
|
March 3, 2021
Two Italian Patients with <i>ELOVL4</i>-Related Neuro-Ichthyosis: Expanding the Genotypic and Phenotypic Spectrum and Ultrastructural Characterization
Andrea Diociaiuti, Diego Martinelli, Francesco Nicita, et al.
Clinical Genetics
|
May 9, 2019
Heterozygous missense variants of SPTBN2 are a frequent cause of congenital cerebellar ataxia
Francesco Nicita, Marta Nardella, Emanuele Bellacchio, et al.
Plos One
|
April 8, 2016
Mean Platelet Volume, Vitamin D and C Reactive Protein Levels in Normal Weight Children with Primary Snoring and Obstructive Sleep Apnea Syndrome
Anna Maria Zicari, Francesca Occasi, Federica Di Mauro, et al.
Child'S Nervous System : Chns : Official Journal of the International Society for Pediatric Neurosurgery
|
October 30, 2008
Two siblings with a homozygous MTHFR C677T (G80A-RFC1) mutation and stroke
Massimo Barbagallo, Piero Pavone, Gemma Incorpora, et al.
Epilepsia
|
May 13, 2014
Seizures in fetal alcohol spectrum disorders: evaluation of clinical, electroencephalographic, and neuroradiologic features in a pediatric case series
Francesco Nicita, Alberto Verrotti, Dario Pruna, et al.
Cerebellum (London, England)
|
September 23, 2024
De Novo GRID2 Variant as a Cause of Ataxia with Oculomotor Apraxia and Alpha-Fetoprotein Elevation
Jacopo Sartorelli, Lorena Travaglini, Vito Luigi Colona, et al.
Muscle & Nerve
|
August 9, 2021
Age-related sensory neuropathy in patients with spinal muscular atrophy type 1
Stefano Pro, Alberto Eugenio Tozzi, Adele D'Amico, et al.
Seizure
|
September 16, 2011
The genetics of monogenic idiopathic epilepsies and epileptic encephalopathies
Francesco Nicita, Paola De Liso, Federica Rachele Danti, et al.
Clinical Genetics
|
November 10, 2019
Hereditary spastic paraplegia is a novel phenotype for germline de novo ATP1A1 mutation
Fabrizia Stregapede, Lorena Travaglini, Adriana P Rebelo, et al.
Page
of 12