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Abi-Warde, T.
Early-Onset Epileptic Encephalopathy Related to Germline PIGA Mutations: A Series of Four Patients
Accorsi, P.
Primary and Secondary Stereotypies in Children: A Pilot Standardized Protocol and Video Analysis
Afenjar, A.
Congenital Immobility and Stiffness Due to ATAD1 Biallelic Mutations: Report of Two Novel Unrelated Patients
Ajenfar, A.
Expanding the Spectrum of Poretti-Boltshauser Syndrome: 10 New Patients with LAMA1 Mutations
Alessandrini, A.
Environmental Adaptation and Early Visual Training to Promote Neurodevelopment in Infants with Visual Impairment: A Pilot Study
Alfei, E.
Acute Flaccid Myelitis: An Emerging Disease with Several Challenges. A Retrospective Study of an Italian Cohort.
Al-Zaidy, S.
AVXS-101 Phase 1 Gene-Replacement Therapy (GRT) Clinical Trial in Spinal Muscular Atrophy Type 1 (SMA1): 24-Month Event-Free Survival and Achievement of Developmental Milestones
Amthor, Helge
Residual Very Low Dystrophin Levels Mitigate Dystrophinopathy towards Becker’s Muscular Dystrophy
Arnold, W.D.
AVXS-101 Phase 1 Gene-Replacement Therapy (GRT) Clinical Trial in Spinal Muscular Atrophy Type 1 (SMA1): 24-Month Event-Free Survival and Achievement of Developmental Milestones
Arzimanoglou, A.
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.
Auquier, P.
Characteristics of Polyhandicapped Patients. About a 875 Patients Cohort
Baumstarck, K.
Characteristics of Polyhandicapped Patients. About a 875 Patients Cohort
Bernardi, G.
Acute Flaccid Myelitis: An Emerging Disease with Several Challenges. A Retrospective Study of an Italian Cohort.
Betrouni, N.
An Automated EEG Grading System for the Early Neonatal Brain Injury Severity Prediction Postperinatal Asphyxia
Billette, T.
Congenital Immobility and Stiffness Due to ATAD1 Biallelic Mutations: Report of Two Novel Unrelated Patients
Boespflug-Tanguy, O.
A Novel Hypomyelinating Leukodystrophy Caused by Loss of the Sphingolipid Desaturase DEGS1 with Potential Therapy
Natural History in Leukodystrophies Related to POLR3A and POLR3B Mutations: A Multicentric Survey of 21 Pediatric Cases
Bouilleret, V.
Biallelic PDE2A Mutations: A New Cause of Intellectual Disability with Paroxysmal Dyskinesia and/or Epilepsy
Boussaid, K.
Natural History in Leukodystrophies Related to POLR3A and POLR3B Mutations: A Multicentric Survey of 21 Pediatric Cases
Bova, S.
Acute Flaccid Myelitis: An Emerging Disease with Several Challenges. A Retrospective Study of an Italian Cohort.
Briola, F. La
New Strategies to Assess Neuropsychiatric Involvement and Improve the Outcome in Children and Adolescents with NF1 and TSC
Brisse, C.
Characteristics of Polyhandicapped Patients. About a 875 Patients Cohort
Brunetti, S.
Primary and Secondary Stereotypies in Children: A Pilot Standardized Protocol and Video Analysis
Bunod, R.
Congenital Immobility and Stiffness Due to ATAD1 Biallelic Mutations: Report of Two Novel Unrelated Patients
Burglen, L.
Expanding the Spectrum of Poretti-Boltshauser Syndrome: 10 New Patients with LAMA1 Mutations
Cabasson, S.
Early-Onset Epileptic Encephalopathy Related to Germline PIGA Mutations: A Series of Four Patients
Calza, S.
Environmental Adaptation and Early Visual Training to Promote Neurodevelopment in Infants with Visual Impairment: A Pilot Study
Campostrini, E.
Environmental Adaptation and Early Visual Training to Promote Neurodevelopment in Infants with Visual Impairment: A Pilot Study
Cancès, C.
Early-Onset Epileptic Encephalopathy Related to Germline PIGA Mutations: A Series of Four Patients
Carneiro, M.
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.
Cavallera, V.
Proposal of a New Diagnostic Score for Aicardi–Goutières Syndrome
Cervi, F.
New Strategies to Assess Neuropsychiatric Involvement and Improve the Outcome in Children and Adolescents with NF1 and TSC
Chakrapani, A.
Design, Baseline Characteristics, and 2-Year Follow-up from The MPS IIIA Natural History Study Used as Control Group in Gene Therapy Trial
Charollais, A.
Langage ET Motricite DU Premature: Effet d’une Reeducation Protocolisee
Chiapparini, L.
Proposal of a New Diagnostic Score for Aicardi–Goutières Syndrome
Colleaux, L.
A Novel Hypomyelinating Leukodystrophy Caused by Loss of the Sphingolipid Desaturase DEGS1 with Potential Therapy
Colombo, V.
Acute Flaccid Myelitis: An Emerging Disease with Several Challenges. A Retrospective Study of an Italian Cohort.
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)
Fazzi, E.
Primary and Secondary Stereotypies in Children: A Pilot Standardized Protocol and Video Analysis
Proposal of a New Diagnostic Score for Aicardi–Goutières Syndrome
Environmental Adaptation and Early Visual Training to Promote Neurodevelopment in Infants with Visual Impairment: A Pilot Study
Social Cognition in Children Autism Spectrum Disorders: An Eye Tracking Study
Felce, A.
Characteristics of Polyhandicapped Patients. About a 875 Patients Cohort
Feltner, D.E.
Early Diagnosis and Speed to Effect in Spinal Muscular Atrophy Type 1 (SMA-1)
Ferrario, S.
Acute Flaccid Myelitis: An Emerging Disease with Several Challenges. A Retrospective Study of an Italian Cohort.
Fourcade, S.
A Novel Hypomyelinating Leukodystrophy Caused by Loss of the Sphingolipid Desaturase DEGS1 with Potential Therapy
Fumagalli, E.
Environmental Adaptation and Early Visual Training to Promote Neurodevelopment in Infants with Visual Impairment: A Pilot Study
Galli, J.
Primary and Secondary Stereotypies in Children: A Pilot Standardized Protocol and Video Analysis
Proposal of a New Diagnostic Score for Aicardi–Goutières Syndrome
Environmental Adaptation and Early Visual Training to Promote Neurodevelopment in Infants with Visual Impairment: A Pilot Study
Social Cognition in Children Autism Spectrum Disorders: An Eye Tracking Study
Garel, C.
Expanding the Spectrum of Poretti-Boltshauser Syndrome: 10 New Patients with LAMA1 Mutations
Giordano, L.
Primary and Secondary Stereotypies in Children: A Pilot Standardized Protocol and Video Analysis
Gitti, F.
Primary and Secondary Stereotypies in Children: A Pilot Standardized Protocol and Video Analysis
Social Cognition in Children Autism Spectrum Disorders: An Eye Tracking Study
Giugliani, R.
Design, Baseline Characteristics, and 2-Year Follow-up from The MPS IIIA Natural History Study Used as Control Group in Gene Therapy Trial
Gras, D.
Evaluating the Performance of METAglut-1 in Patients Whose Clinical Presentation is Compatible with the Glucose Transporter-1 Deficiency Syndrome (GLUT-1 DS)
Hanaoka, S.
The Treatment by Small Dose of Valproic Acid for Auditory Hypersensitivity in Autism Spectrum Disorder
Haye, D.
Expanding the Spectrum of Poretti-Boltshauser Syndrome: 10 New Patients with LAMA1 Mutations
Heron, B.
Design, Baseline Characteristics, and 2-Year Follow-up from The MPS IIIA Natural History Study Used as Control Group in Gene Therapy Trial
Hirsch, E.
Biallelic PDE2A Mutations: A New Cause of Intellectual Disability with Paroxysmal Dyskinesia and/or Epilepsy
Isapof, A.
Congenital Immobility and Stiffness Due to ATAD1 Biallelic Mutations: Report of Two Novel Unrelated Patients
Karsenty, C.
Early-Onset Epileptic Encephalopathy Related to Germline PIGA Mutations: A Series of Four Patients
Kaspar, B.K.
AVXS-101 Phase 1 Gene-Replacement Therapy (GRT) Clinical Trial in Spinal Muscular Atrophy Type 1 (SMA1): 24-Month Event-Free Survival and Achievement of Developmental Milestones
Keren, B.
Congenital Immobility and Stiffness Due to ATAD1 Biallelic Mutations: Report of Two Novel Unrelated Patients
Khaldi, S.
Characteristics of Polyhandicapped Patients. About a 875 Patients Cohort
Kraoua, I.
Natural History in Leukodystrophies Related to POLR3A and POLR3B Mutations: A Multicentric Survey of 21 Pediatric Cases
Lacan, L.
An Automated EEG Grading System for the Early Neonatal Brain Injury Severity Prediction Postperinatal Asphyxia
Lamblin, M.D.
An Automated EEG Grading System for the Early Neonatal Brain Injury Severity Prediction Postperinatal Asphyxia
Lanaro, M.
Social Cognition in Children Autism Spectrum Disorders: An Eye Tracking Study
Lesca, G.
Epilepsy in Inv Dup (15) Syndrome: Clnical and Electrophysiological Features in a Case Series of Four Patients
Leturcq, France
Residual Very Low Dystrophin Levels Mitigate Dystrophinopathy towards Becker’s Muscular Dystrophy
Lowes, L.P.
AVXS-101 Phase 1 Gene-Replacement Therapy (GRT) Clinical Trial in Spinal Muscular Atrophy Type 1 (SMA1): 24-Month Event-Free Survival and Achievement of Developmental Milestones
Martin, A. De Saint
Early-Onset Epileptic Encephalopathy Related to Germline PIGA Mutations: A Series of Four Patients
Masnada, S.
Acute Flaccid Myelitis: An Emerging Disease with Several Challenges. A Retrospective Study of an Italian Cohort.
Mendell, J.R.
AVXS-101 Phase 1 Gene-Replacement Therapy (GRT) Clinical Trial in Spinal Muscular Atrophy Type 1 (SMA1): 24-Month Event-Free Survival and Achievement of Developmental Milestones
Menier, M.
Early Diagnosis and Speed to Effect in Spinal Muscular Atrophy Type 1 (SMA-1)
Micheletti, S.
Environmental Adaptation and Early Visual Training to Promote Neurodevelopment in Infants with Visual Impairment: A Pilot Study
Mignot, C.
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
Milleret-Pignot, C.
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.
Moal, L.
Expanding the Spectrum of Poretti-Boltshauser Syndrome: 10 New Patients with LAMA1 Mutations
Molinaro, A.
Environmental Adaptation and Early Visual Training to Promote Neurodevelopment in Infants with Visual Impairment: A Pilot Study
Muschol, N.
Design, Baseline Characteristics, and 2-Year Follow-up from The MPS IIIA Natural History Study Used as Control Group in Gene Therapy Trial
Nardocci, N.
Primary and Secondary Stereotypies in Children: A Pilot Standardized Protocol and Video Analysis
Nasser, H.
Biallelic PDE2A Mutations: A New Cause of Intellectual Disability with Paroxysmal Dyskinesia and/or Epilepsy
Nguyen, S.
An Automated EEG Grading System for the Early Neonatal Brain Injury Severity Prediction Postperinatal Asphyxia
Nicolino, M.
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.
Novack, A.
Early Diagnosis and Speed to Effect in Spinal Muscular Atrophy Type 1 (SMA-1)
Ntorku, A.
Natural History in Leukodystrophies Related to POLR3A and POLR3B Mutations: A Multicentric Survey of 21 Pediatric Cases
Olivier, S.
Design, Baseline Characteristics, and 2-Year Follow-up from The MPS IIIA Natural History Study Used as Control Group in Gene Therapy Trial
Olivotto, S.
Acute Flaccid Myelitis: An Emerging Disease with Several Challenges. A Retrospective Study of an Italian Cohort.
Orcesi, S.
Proposal of a New Diagnostic Score for Aicardi–Goutières Syndrome
Panagiotakaki, E.
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.
Pant, D.C.
A Novel Hypomyelinating Leukodystrophy Caused by Loss of the Sphingolipid Desaturase DEGS1 with Potential Therapy
Papadopoulou, M.
Epilepsy in Inv Dup (15) Syndrome: Clnical and Electrophysiological Features in a Case Series of Four Patients
Parazzini, C.
Acute Flaccid Myelitis: An Emerging Disease with Several Challenges. A Retrospective Study of an Italian Cohort.
Proposal of a New Diagnostic Score for Aicardi–Goutières Syndrome
Parker, S.
Design, Baseline Characteristics, and 2-Year Follow-up from The MPS IIIA Natural History Study Used as Control Group in Gene Therapy Trial
Pavlova, M.A.
Social Cognition in Children Autism Spectrum Disorders: An Eye Tracking Study
Pédespan, J.M.
Early-Onset Epileptic Encephalopathy Related to Germline PIGA Mutations: A Series of Four Patients
Pichiecchio, A.
Proposal of a New Diagnostic Score for Aicardi–Goutières Syndrome
Pons, L.
Epilepsy in Inv Dup (15) Syndrome: Clnical and Electrophysiological Features in a Case Series of Four Patients
Prior, T.W.
AVXS-101 Phase 1 Gene-Replacement Therapy (GRT) Clinical Trial in Spinal Muscular Atrophy Type 1 (SMA1): 24-Month Event-Free Survival and Achievement of Developmental Milestones
Pujol, A.
A Novel Hypomyelinating Leukodystrophy Caused by Loss of the Sphingolipid Desaturase DEGS1 with Potential Therapy
Renaldo, F.
Natural History in Leukodystrophies Related to POLR3A and POLR3B Mutations: A Multicentric Survey of 21 Pediatric Cases
Riquet, A.
Expanding the Spectrum of Poretti-Boltshauser Syndrome: 10 New Patients with LAMA1 Mutations
Rivera, S.
Early-Onset Epileptic Encephalopathy Related to Germline PIGA Mutations: A Series of Four Patients
Rivier, C.
Epilepsy in Inv Dup (15) Syndrome: Clnical and Electrophysiological Features in a Case Series of Four Patients
Rizzi, A.
Social Cognition in Children Autism Spectrum Disorders: An Eye Tracking Study
Rodino-Klapac, L.
AVXS-101 Phase 1 Gene-Replacement Therapy (GRT) Clinical Trial in Spinal Muscular Atrophy Type 1 (SMA1): 24-Month Event-Free Survival and Achievement of Developmental Milestones
Rodriguez, D.
Expanding the Spectrum of Poretti-Boltshauser Syndrome: 10 New Patients with LAMA1 Mutations
A Novel Hypomyelinating Leukodystrophy Caused by Loss of the Sphingolipid Desaturase DEGS1 with Potential Therapy
Natural History in Leukodystrophies Related to POLR3A and POLR3B Mutations: A Multicentric Survey of 21 Pediatric Cases
Rossi, A.
Primary and Secondary Stereotypies in Children: A Pilot Standardized Protocol and Video Analysis
Environmental Adaptation and Early Visual Training to Promote Neurodevelopment in Infants with Visual Impairment: A Pilot Study
Roubertie, A.
Natural History in Leukodystrophies Related to POLR3A and POLR3B Mutations: A Multicentric Survey of 21 Pediatric Cases
Rousseau, M.C.
Characteristics of Polyhandicapped Patients. About a 875 Patients Cohort
Rudolf, G.
Biallelic PDE2A Mutations: A New Cause of Intellectual Disability with Paroxysmal Dyskinesia and/or Epilepsy
Ruello, C.
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.
Sabatier, I.
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.
Samaan, S.
Natural History in Leukodystrophies Related to POLR3A and POLR3B Mutations: A Multicentric Survey of 21 Pediatric Cases
Schluter, A.
A Novel Hypomyelinating Leukodystrophy Caused by Loss of the Sphingolipid Desaturase DEGS1 with Potential Therapy
Shell, R.
AVXS-101 Phase 1 Gene-Replacement Therapy (GRT) Clinical Trial in Spinal Muscular Atrophy Type 1 (SMA1): 24-Month Event-Free Survival and Achievement of Developmental Milestones
Sproule, D.M.
Early Diagnosis and Speed to Effect in Spinal Muscular Atrophy Type 1 (SMA-1)
Tanguy, O. Boespflug
Evaluating the Performance of METAglut-1 in Patients Whose Clinical Presentation is Compatible with the Glucose Transporter-1 Deficiency Syndrome (GLUT-1 DS)
Till, M.
Epilepsy in Inv Dup (15) Syndrome: Clnical and Electrophysiological Features in a Case Series of Four Patients
Tonduti, D.
Acute Flaccid Myelitis: An Emerging Disease with Several Challenges. A Retrospective Study of an Italian Cohort.
Proposal of a New Diagnostic Score for Aicardi–Goutières Syndrome
Toulouse, J.
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.
Trommsdorff, R.
Autism Spectrum Disorder (ASD) In Reunion Island: Relationship between Social and Economic Conditions and ASD Intensity.
Trommsdorff, V.
Autism Spectrum Disorder (ASD) In Reunion Island: Relationship between Social and Economic Conditions and ASD Intensity.
Truncated, A.
AVXS-101 Phase 1 Gene-Replacement Therapy (GRT) Clinical Trial in Spinal Muscular Atrophy Type 1 (SMA1): 24-Month Event-Free Survival and Achievement of Developmental Milestones
Uggetti, C.
Proposal of a New Diagnostic Score for Aicardi–Goutières Syndrome
Valence, S.
Expanding the Spectrum of Poretti-Boltshauser Syndrome: 10 New Patients with LAMA1 Mutations
Valkov, M.
Characteristics of Polyhandicapped Patients. About a 875 Patients Cohort
Van Gils, J.
Early-Onset Epileptic Encephalopathy Related to Germline PIGA Mutations: A Series of Four Patients
Veggiotti, P.
Acute Flaccid Myelitis: An Emerging Disease with Several Challenges. A Retrospective Study of an Italian Cohort.
Vignoli, A.
New Strategies to Assess Neuropsychiatric Involvement and Improve the Outcome in Children and Adolescents with NF1 and TSC
Ville, D.
A Novel Hypomyelinating Leukodystrophy Caused by Loss of the Sphingolipid Desaturase DEGS1 with Potential Therapy
Villéga, F.
Early-Onset Epileptic Encephalopathy Related to Germline PIGA Mutations: A Series of Four Patients
Wahbi, Karim
Residual Very Low Dystrophin Levels Mitigate Dystrophinopathy towards Becker’s Muscular Dystrophy
Whalen, S.
Congenital Immobility and Stiffness Due to ATAD1 Biallelic Mutations: Report of Two Novel Unrelated Patients
Wijburg, F.
Design, Baseline Characteristics, and 2-Year Follow-up from The MPS IIIA Natural History Study Used as Control Group in Gene Therapy Trial
Yaou, Rabah Ben
Residual Very Low Dystrophin Levels Mitigate Dystrophinopathy towards Becker’s Muscular Dystrophy
Zuccotti, G.
Acute Flaccid Myelitis: An Emerging Disease with Several Challenges. A Retrospective Study of an Italian Cohort.