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Acta Neurochirurgica, ISSN 0001-6268, 10/2019, Volume 161, Issue 10, pp. 2141 - 2145
Plexiform neurofibromas (PN) can determine pain, nerve function impairment, and, when extremely large, also deformity. Surgical is often partial, with possible... 
Neurology | Surgical Orthopedics | YELLOW560 filter | Medicine & Public Health | Neurofibromatosis | Minimally Invasive Surgery | Fluorescein | Plexiform neurofibroma | Peripheral nervous system tumor | Neurosurgery | Interventional Radiology | Neuroradiology | Neurological diseases | Transformation | Transformations | Pain | Surgery | Index Medicus
Journal Article
Current Opinion in Oncology, ISSN 1040-8746, 08/2019
PURPOSE OF REVIEWThe current review summarizes recent advances on three important issues in neurofibromatosis type 1 (NF1) managementthe identification of... 
Journal Article
Nature Genetics, ISSN 1061-4036, 01/2015, Volume 47, Issue 1, pp. 39 - 46
Journal Article
Metabolic brain disease, ISSN 0885-7490, 07/2019, pp. 1 - 11
Mutations in the thyroid hormone transporter MCT8 cause severe intellectual and motor disability and abnormal serum thyroid function tests, a syndrome known as... 
Phenotypes | Basal ganglia | Trafficking | Thyroid gland | Hypothyroidism | Ganglia | Proteins | Genotype & phenotype | Genetic analysis | Fibroblasts | Mutation | Transporter | Thyroid
Journal Article
Annals of neurology, ISSN 0364-5134, 2012, Volume 71, Issue 4, pp. 520 - 530
Journal Article
Behavioural neurology, ISSN 0953-4180, 2019, Volume 2019, pp. 7146168 - 10
Visual-spatial impairment has long been considered a hallmark feature of neurofibromatosis type 1 (NF1). No study investigating the cognitive and... 
EXECUTIVE FUNCTION | LANGUAGE | ATTENTION | RECOGNITION | NEUROPSYCHOLOGICAL PROFILE | ADOLESCENTS | PHENOTYPE | NEUROFIBROMATOSIS TYPE-1 | MORPHOLOGY | CLINICAL NEUROLOGY | COGNITIVE DEFICITS | Studies | Autism | Brain cancer | Memory | Brain damage | Age | Tumors | Siblings
Journal Article
Child's Nervous System, ISSN 0256-7040, 10/2019, Volume 35, Issue 10, pp. 1727 - 1739
Chiari malformation type I (CMI) is a common pediatric neurologic anomaly that can be associated with a variety of genetic disorders; however, it is not always... 
Neurosciences | Chromosomal rearrangements | Medicine & Public Health | Craniosynostosis | PTENopathies | Chiari I malformation | Neurosurgery | RASopathies | Genetic syndromes | Index Medicus
Journal Article
Child's Nervous System, ISSN 0256-7040, 10/2019, Volume 35, Issue 10, pp. 1741 - 1753
Chiari 1 malformation (CM1) is a well-known association with complex craniosynostosis (CC), while it has been rarely reported in association with... 
Neurosciences | Sagittal synostosis | Medicine & Public Health | Craniosynostosis | Chiari 1 malformation | Cranioplasty | Neurosurgery | Intracranial pressure | Developmental delay
Journal Article
Nature Medicine, ISSN 1078-8956, 01/2019, Volume 25, Issue 1, pp. 176 - 187
Journal Article
American Journal of Medical Genetics Part B: Neuropsychiatric Genetics, ISSN 1552-4841, 09/2018, Volume 177, Issue 6, pp. 557 - 562
The presence of redundant copy number variants (CNVs) in groups of patients with neurological diseases suggests that these variants could have pathogenic... 
long noncoding RNA | array CGH | NRXN1 | CNVs | MOUSE-BRAIN | VARIANTS | PSYCHIATRY | BRAIN-DEVELOPMENT | INTELLECTUAL DISABILITY | DISRUPTION | GENE | DISEASE | GENETICS & HEREDITY | DELETIONS | EXPRESSION | Antisense RNA | Nervous system diseases | Disease susceptibility | Neurological diseases | Cortex (prefrontal) | Mood | Mental disorders | Coding | Copy number | Cognition | Hybridization | Localization | Ribonucleic acid--RNA | Chromosome 2
Journal Article
Journal of human genetics, 03/2018, Volume 63, Issue 3, p. 391
Correction to: Journal of Human Genetics advance online publication 27 July 2017; https://doi.org/10.1038/jhg.2017.78. 
Journal Article
Genetics in Medicine, ISSN 1098-3600, 04/2019, Volume 21, Issue 4, pp. 867 - 876
Neurofibromatosis type 1 (NF1) is characterized by a highly variable clinical presentation, but almost all NF1-affected adults present with cutaneous and/or... 
genotype–phenotype correlation | NF1 | p.Met992del | learning difficulties | neurofibroma | GENETICS & HEREDITY | Genotype & phenotype | Brain cancer | Index Medicus
Journal Article