Abstracts (HTML) List of Authors

Dabbous, O.

Early Diagnosis and Speed to Effect in Spinal Muscular Atrophy Type 1 (SMA-1)

De Bellescize, J.

Epilepsy in Inv Dup (15) Syndrome: Clnical and Electrophysiological Features in a Case Series of Four Patients
Epilepsy and EEG Patterns in Children Diagnosed with Hyperinsulinism. Report of Two Cases Presented as Atypical Generalized Epilepsy and Review of EEGS of 15 Supplementary Cases.

de Feraudy, Yvan

Residual Very Low Dystrophin Levels Mitigate Dystrophinopathy towards Becker’s Muscular Dystrophy

De Giorgis, V.

Proposal of a New Diagnostic Score for Aicardi–Goutières Syndrome

De Lucia, S.

Natural History in Leukodystrophies Related to POLR3A and POLR3B Mutations: A Multicentric Survey of 21 Pediatric Cases

Dentel, C.

Biallelic PDE2A Mutations: A New Cause of Intellectual Disability with Paroxysmal Dyskinesia and/or Epilepsy

Derambure, P.

An Automated EEG Grading System for the Early Neonatal Brain Injury Severity Prediction Postperinatal Asphyxia

Desguerre, I.

A Novel Hypomyelinating Leukodystrophy Caused by Loss of the Sphingolipid Desaturase DEGS1 with Potential Therapy

De Simone, M.

Proposal of a New Diagnostic Score for Aicardi–Goutières Syndrome

De Villemeur, T. Billette

Characteristics of Polyhandicapped Patients. About a 875 Patients Cohort

Dilillo, D.

Acute Flaccid Myelitis: An Emerging Disease with Several Challenges. A Retrospective Study of an Italian Cohort.

Dindault, E.

Epilepsy in Inv Dup (15) Syndrome: Clnical and Electrophysiological Features in a Case Series of Four Patients

Dorboz, I.

A Novel Hypomyelinating Leukodystrophy Caused by Loss of the Sphingolipid Desaturase DEGS1 with Potential Therapy

Doummar, D.

Biallelic PDE2A Mutations: A New Cause of Intellectual Disability with Paroxysmal Dyskinesia and/or Epilepsy
Congenital Immobility and Stiffness Due to ATAD1 Biallelic Mutations: Report of Two Novel Unrelated Patients

Dozieres-Puyravel, B.

Biallelic PDE2A Mutations: A New Cause of Intellectual Disability with Paroxysmal Dyskinesia and/or Epilepsy

Drevot, P.

Design, Baseline Characteristics, and 2-Year Follow-up from The MPS IIIA Natural History Study Used as Control Group in Gene Therapy Trial

Droege, M.

Early Diagnosis and Speed to Effect in Spinal Muscular Atrophy Type 1 (SMA-1)