JF
| Title | Published in | Access level | OA Policy | Year | Views | Downloads | |
|---|---|---|---|---|---|---|---|
| Expansion of the neurodevelopmental phenotype of individuals with EEF1A2 variants and genotype-phenotype study | European journal of human genetics |  | 2024 | 8 | 8 | ||
| SCN2A developmental and epileptic encephalopathy in an infant with bilateral polymicrogyria and opercular dysplasia | Brain and development. Case reports | | 2024 | 7 | 30 | ||
| Reply to letter that comments on "Trigeminal nerve chronic motor denervation caused by cerebellar peduncle pilocytic astrocytoma" | Child's nervous system |  | 2024 | 64 | 0 | ||
| CAMTA1-related disorder : Phenotypic and molecular characterization of 26 new individuals and literature review | Clinical genetics | | 2024 | 5 | 0 | ||
| Perinatal arterial ischemic stroke : how informative is the placenta ? | Virchows Archiv | | 2024 | 73 | 27 | ||
| Chronic Pain in Patients with Spinal Muscular Atrophy in Switzerland : A Query to the Spinal Muscular Atrophy Registry | Journal of clinical medicine | | 2024 | 8 | 1 | ||
| Efficacy and safety of gene therapy with onasemnogene abeparvovec in children with spinal muscular atrophy in the D-A-CH-region : a population-based observational study | The Lancet regional health. Europe | | 2024 | 9 | 13 | ||
| Molecular and Phenotypic Characterization of the RORB-Related Disorder | Neurology | | 2024 | 7 | 0 | ||
| Inflammatory Type Focal Cerebral Arteriopathy of the Posterior Circulation in Children : A Comparative Cohort Study | Stroke | | 2024 | 8 | 7 | ||
| A Multicenter Cross-Sectional Study of the Swiss Cohort of LAMA2-Related Muscular Dystrophy | Journal of neuromuscular diseases | | 2024 | 9 | 16 | ||
| Fatal cervical myelopathy in a child with glutaric aciduria type 1 | Journal of inherited metabolic disease | | 2024 | 10 | 5 | ||
| Successful heart transplant in a child with congenital core myopathy and delayed-onset restrictive cardiomyopathy due to recessive mutations in the titin (TTN) gene | Pediatric transplantation | | 2023 | 120 | 65 | ||
| Long-term developmental condition following neonatal arterial ischemic stroke : A systematic review | Archives de pédiatrie | | 2023 | 151 | 145 | ||
| Utilité clinique des genome boards pour les maladies génétiques complexes | Revue médicale suisse | | 2023 | 166 | 68 | ||
| Decompressive hemicraniectomy in pediatric malignant arterial ischemic stroke : a case-based review | Child's nervous system | | 2023 | 63 | 76 | ||
| Movement disorders in valine métabolism diseases caused by HIBCH and ECHS1 deficiencies | European journal of neurology | | 2022 | 64 | 0 | ||
| Childhood-Onset Movement Disorders Can Mask a Primary Immunodeficiency: 6 Cases of Classical Ataxia-Telangiectasia and Variant Forms | Frontiers in immunology | | 2022 | 298 | 122 | ||
| Gait stability in ambulant children with cerebral palsy during dual tasks | PloS one | | 2022 | 170 | 160 | ||
| SUFU haploinsufficiency causes a recognisable neurodevelopmental phenotype at the mild end of the Joubert syndrome spectrum | Journal of medical genetics | | 2022 | 79 | 65 | ||
| Cohort profile : the Swiss Cerebral Palsy Registry (Swiss-CP-Reg) cohort study | Swiss medical weekly | | 2022 | 79 | 149 | ||
| L’apprentissage du langage écrit chez des enfants avec paralysie cérébrale unilatérale | ANAE. Approche neuropsychologique des apprentissages chez l'enfant | | 2021 | 413 | 134 | ||
| Structural brain abnormalities in epilepsy with myoclonic atonic seizures | Epilepsy research | | 2021 | 93 | 129 | ||
| High rate of hypomorphic variants as the cause of inherited ataxia and related diseases: study of a cohort of 366 families | Genetics in medicine | | 2021 | 86 | 0 | ||
| Truncating variants in the SHANK1 gene are associated with a spectrum of neurodevelopmental disorders | Genetics in medicine | | 2021 | 107 | 75 | ||
| Adaptive behavior and psychiatric comorbidities in KCNB1 encephalopathy | Epilepsy & behavior | | 2021 | 123 | 46 | ||
| Trigeminal nerve chronic motor denervation caused by cerebellar peduncle pilocytic astrocytoma | Child's nervous system | | 2021 | 230 | 1 | ||
| Bi-allelic loss of ERGIC1 causes relatively mild arthrogryposis | Clinical genetics | | 2021 | 163 | 76 | ||
| Recognition, identification, and diagnosis announcement of neonatal arterial ischemic stroke: A combined exploratory quantitative and qualitative study on parents' lived experiences | Archives de pédiatrie | | 2021 | 76 | 54 | ||
| Accident vasculaire cérébral périnatal : nosographie, présentation clinique, pathogénie, facteurs de risque et génétique | Bulletin de l'Académie nationale de médecine | | 2021 | 89 | 0 | ||
| Making sense of missense variants in TTN-related congenital myopathies | Acta neuropathologica | | 2021 | 82 | 11 | ||
| Risk factors for postprocedural arterial ischemic stroke in children with cardiac disease | Stroke | | 2020 | 167 | 0 | ||
| Deciphering the natural history of SCA7 in children | European Journal of Neurology | | 2020 | 247 | 0 | ||
| Cognitive and academic profiles in children with cerebral palsy: A narrative review | Annals of Physical and Rehabilitation Medicine | | 2020 | 288 | 922 | ||
| MCF2 is linked to a complex perisylvian syndrome and affects cortical lamination | Annals of Clinical and Translational Neurology | | 2020 | 212 | 143 | ||
| Impact of stroke volume on motor outcome in neonatal arterial ischemic stroke | European Journal of Paediatric Neurology | | 2020 | 194 | 0 | ||
| From congenial paralysis to post-early brain injury developmental condition: Where does cerebral palsy actually stand? | Annals of Physical and Rehabilitation Medicine | | 2019 | 245 | 0 | ||
| Perinatal stroke syndromes: Similarities and diversities in aetiology, outcome and management | European Journal of Paediatric Neurology | | 2019 | 250 | 0 | ||
| Health related quality of life and manual ability 5 years after neonatal ischemic stroke | European Journal of Paediatric Neurology | | 2019 | 222 | 0 | ||
| Modalities of reading acquisition in three siblings with infantile-onset saccade initiation delay (Cogan congenital ocular motor apraxia): a longitudinal study | European Journal of Paediatric Neurology | | 2019 | 328 | 2 | ||
| The effects of dual tasks on gait in children with cerebral palsy | Gait & Posture | | 2019 | 446 | 0 | ||
| Congenital Neuronal Ceroid Lipofuscinosis with a Novel CTSD Gene Mutation: A Rare Cause of Neonatal-Onset Neurodegenerative Disorder | Neuropediatrics | | 2018 | 581 | 2 | ||
| Natural History of Vanishing White Matter | Annals of Neurology | | 2018 | 381 | 209 | ||
| MRI of the first event in pediatric acquired demyelinating syndromes with antibodies to myelin oligodendrocyte glycoprotein | Journal of Neurology | | 2018 | 361 | 0 | ||
| Manual dexterity, but not cerebral palsy, predicts cognitive functioning after neonatal stroke | Developmental Medicine and Child Neurology | | 2018 | 338 | 1 | ||
| Novel NEXMIF pathogenic variant in a boy with severe autistic features, intellectual disability, and epilepsy, and his mildly affected mother | Journal of Human Genetics | | 2018 | 453 | 387 | ||
| Pediatric stroke related to Lyme neuroborreliosis: Data from the Swiss NeuroPaediatric Stroke Registry and literature review | European Journal of Paediatric Neurology | | 2018 | 281 | 245 | ||
| Feasibility, safety, and outcome of recanalization treatment in childhood stroke | Annals of Neurology | | 2018 | 310 | 0 | ||
| Dexterity and Finger Sense: A Possible Dissociation in Children With Cerebral Palsy | Perceptual and Motor Skills | | 2018 | 329 | 0 | ||
| Intracranial Hemorrhage and Autoimmune Thrombocytopenia in a Neonate: A Rare "Unpredictable" Event | Child Neurology Open | | 2018 | 356 | 179 | ||
| Thalamic Hemorrhagic Stroke in the Term Newborn: A Specific Neonatal Syndrome With Non-uniform Outcome | Journal of Child Neurology | | 2017 | 536 | 2 | ||
| Is there an excess of left-handedness after neonatal stroke? | Cortex | | 2017 | 380 | 0 | ||
| Inborn errors in RNA polymerase III underlie severe varicella zoster virus infections | Journal of Clinical Investigation | | 2017 | 417 | 1 | ||
| SERPINI1 pathogenic variants: An emerging cause of childhood-onset progressive myoclonic epilepsy | American Journal of Medical Genetics. A | | 2017 | 541 | 2 | ||
| Secondary Prevention of Childhood Arterial Ischemic Stroke | Journal of Child Neurology | | 2017 | 412 | 0 | ||
| Hypomorphic Recessive Variants in SUFU Impair the Sonic Hedgehog Pathway and Cause Joubert Syndrome with Cranio-facial and Skeletal Defects | American Journal of Human Genetics | | 2017 | 419 | 176 | ||
| Perspectives in neonatal and childhood arterial ischemic stroke | Expert Review of Neurotherapeutics | | 2017 | 410 | 1 | ||
| Quality of life after paediatric ischaemic stroke | Developmental Medicine and Child Neurology | | 2017 | 418 | 0 | ||
| Transient Cerebral Arteriopathy, Postvaricella Arteriopathy, and Focal Cerebral Arteriopathy or the Unique Susceptibility of the M1 Segment in Children With Stroke | Stroke | | 2016 | 376 | 0 | ||
| Mirror therapy in children with hemiparesis: a randomized observer-blinded trial | Developmental Medicine and Child Neurology | | 2016 | 474 | 0 | ||
| Perinatal arterial ischemic stroke related to carotid artery occlusion | European Journal of Paediatric Neurology | | 2016 | 387 | 0 | ||
| Perinatal Stroke : Distinct Causes, Diverse Outcomes | | 2016 | 594 | 8 | |||
| Herpes simplex encephalitis as a complication of neurosurgical procedures: report of 3 cases and review of the literature | Virology journal | | 2016 | 637 | 255 | ||
| Severe and Progressive Fetal Ventriculomegaly Leading to the Diagnosis of Periventricular Nodular Heterotopias with Good Outcome | Neuropediatrics | | 2016 | 569 | 0 | ||
| Medulloblastoma in children and adults: one distinct disease entity? | Bulletin suisse du cancer | | 2016 | 502 | 58 | ||
| Wallenberg Syndrome: An Exceptional Cause of Acute Vertigo in Children | Neuropediatrics | | 2016 | 660 | 0 | ||
| Acute cortical deafness in a child with MELAS syndrome | Journal of Inherited Metabolic Disease | | 2016 | 537 | 154 | ||
| Multimodal Outcome at 7 Years of Age after Neonatal Arterial Ischemic Stroke | The Journal of Pediatrics | | 2016 | 515 | 0 | ||
| Loss of function of the retinoid-related nuclear receptor (RORB) gene and epilepsy | European Journal of Human Genetics | | 2016 | 482 | 2 | ||
| When should clinicians search for GLUT1 deficiency syndrome in childhood generalized epilepsies? | European journal of paediatric neurology | | 2015 | 561 | 0 | ||
| Long-term outcome after arterial ischemic stroke in children and young adults | Neurology | | 2015 | 536 | 0 | ||
| Stroke-like Phenomena Revealing Multifocal Cerebral Vasculitis in Pediatric Lyme Neuroborreliosis | Journal of child neurology | | 2015 | 577 | 1 | ||
| Incidence and Outcomes of Symptomatic Neonatal Arterial Ischemic Stroke | Pediatrics | | 2015 | 472 | 0 | ||
| EXOSC3 mutations in pontocerebellar hypoplasia type 1: novel mutations and genotype-phenotype correlations | Orphanet journal of rare diseases | | 2014 | 617 | 143 | ||
| Positive outcome following early diagnosis and treatment of pyridoxal-5'-phosphate oxidase deficiency: a case report | Neuropediatrics | | 2014 | 577 | 1 | ||
| Numerical Abilities in Children With Congenital Hemiplegia: An Investigation of the Role of Finger Use in Number Processing | Developmental neuropsychology | | 2014 | 648 | 5 | ||
| Mid-hindbrain Malformations Due to Drugs Taken During Pregnancy | Journal of child neurology | | 2014 | 609 | 3 | ||
| Factors affecting cognitive outcome in early pediatric stroke | Neurology | | 2014 | 520 | 0 | ||
| Planum temporale asymmetry in developmental dyslexia: Revisiting an old question | Human brain mapping | | 2014 | 680 | 2 | ||
| Vitamin D deficiency: a forgotten treatable cause of motor delay and proximal myopathy | Brain & development | | 2014 | 685 | 0 | ||
| Late diagnosis of fucosidosis in a child with progressive fixed dystonia, bilateral pallidal lesions and red spots on the skin | European journal of paediatric neurology | | 2014 | 669 | 0 | ||
| Hippocampal sclerosis and chronic epilepsy following posterior reversible encephalopathy syndrome | Epileptic disorders | | 2013 | 698 | 1 | ||
| Prise en charge diagnostique et thérapeutique actuelle des accidents vasculaires cérébraux post-varicelleux chez l'enfant: revue de la littérature | Archives de pédiatrie | | 2013 | 576 | 0 | ||
| A functionally guided approach to the morphometry of occipitotemporal regions in developmental dyslexia: evidence for differential effects in boys and girls | The Journal of neuroscience | | 2013 | 617 | 0 | ||
| Phenotypic spectrum and prevalence of INPP5E mutations in Joubert syndrome and related disorders | European journal of human genetics | | 2013 | 658 | 0 | ||
| Imagerie de la pathologie infectieuse cérébrale chez l'enfant | Médecine thérapeutique / Pédiatrie[1286-5494] | 2013 | 618 | 0 | |||
| Virus de la varicelle | Causes rares des maladies cérébrovasculaires | 2013 | 419 | 0 | |||
| Ohtahara syndrome or early-onset West syndrome? A case with overlapping features and favorable response to vigabatrin | European journal of paediatric neurology | | 2012 | 669 | 0 | ||
| Essais thérapeutiques dans la dystrophie musculaire de Duchenne: entre espoirs et désespoirs | Revue médicale suisse | | 2012 | 536 | 0 | ||
| Mutations in CTC1, encoding conserved telomere maintenance component 1, cause Coats plus | Nature genetics | | 2012 | 811 | 2 | ||
| Anti-NMDA receptor encephalitis: the importance of early diagnosis and aggressive immunotherapy in tumor negative pediatric patients | European journal of paediatric neurology | | 2012 | 599 | 1 | ||
| Partial rhombencephalosynapsis and Chiari type II malformation in a child: a true association supported by DTI tractography | Cerebellum | | 2012 | 731 | 311 | ||
| EPNS/SFNP guideline on the anticoagulant treatment of cerebral sinovenous thrombosis in children and neonates | European journal of paediatric neurology | | 2012 | 619 | 0 | ||
| The influence of socioeconomic status on children's brain structure | PloS one | | 2012 | 690 | 390 | ||
| Cortical networks for vision and language in dyslexic and normal children of variable socio-economic status | NeuroImage | | 2012 | 758 | 1 | ||
| Delayed diagnosis of acute ischemic stroke in children - a registry-based study in Switzerland | Schweizerische medizinische Wochenschrift | | 2011 | 613 | 0 | ||
| Primary leptomeningeal melanocytosis in a 10-year-old girl: a challenging diagnosis with a poor prognosis | Journal of child neurology | | 2011 | 601 | 0 | ||
| Benzodiazepines in the acute management of seizures with autonomic manifestations: anticipate complications! | Epilepsia | | 2011 | 626 | 0 | ||
| ABCB1 polymorphisms and neuropsychiatric adverse events in oseltamivir-treated children during influenza H1N1/09 pandemia | Pharmacogenomics | | 2011 | 948 | 6 | ||
| Look for the nerves! MR neurography adds essential diagnostic value to routine MRI in pediatric practice: a pictorial overview | Journal of neuroradiology | | 2011 | 672 | 1 | ||
| Acute ischemic stroke in children versus young adults | Annals of neurology | | 2011 | 605 | 0 | ||
| De novo duplication of MECP2 in a girl with mental retardation and no obvious dysmorphic features | Clinical genetics | | 2010 | 677 | 0 | ||
| Evolution des compétences en lecture, compréhension et orthographe en environnement socioéconomique défavorisé et impact des facteurs cognitifs et comportementaux sur le devenir à deux ans | Revue d'épidémiologie et de santé publique | | 2010 | 972 | 0 | ||
| MRI with fibre tracking in Cogan congenital oculomotor apraxia | Pediatric radiology | | 2010 | 649 | 380 | ||
| Mild influenza-associated encephalopathy/encephalitis with a reversible splenial lesion in a Caucasian child with additional cerebellar features | European journal of paediatric neurology | | 2010 | 520 | 1 | ||
| Cerebral sinus venous thrombosis in Swiss children | Developmental medicine and child neurology | | 2010 | 584 | 0 | ||
| Troubles d'acquisition de la lecture en cours élémentaire : facteurs cognitifs, sociaux et comportementaux dans un échantillon de 1'602 enfants | Revue d'épidémiologie et de santé publique | | 2009 | 652 | 1 | ||
| Poor reading in French elementary school: the interplay of cognitive, behavioral, and socioeconomic factors | Journal of developmental and behavioral pediatrics | | 2009 | 683 | 0 | ||
| Specific language impairment versus Landau-Kleffner syndrome | Epilepsia | | 2009 | 614 | 1 | ||
| MECP2 mutant allele in a boy with Rett syndrome and his unaffected heterozygous mother | Brain & development | | 2007 | 575 | 0 | ||
| Syndrome néphrotique de l'enfant et thrombose veineuse cérébrale : description d'un cas et revue de la littérature | | 2005 | 1,127 | 17 | |||
| An unusual intraorbital abscess in a neonate | Journal of pediatric ophthalmology and strabismus | | 2002 | 439 | 1 | ||
| Rituximab with interleukin-2 after autologous bone marrow transplantation for acute lymphocytic leukemia in second remission | Medical and pediatric oncology | | 2002 | 511 | 0 |
