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NeuroMolecular Medicine, ISSN 1535-1084, 12/2014, Volume 16, Issue 4, pp. 821 - 844
An ongoing challenge in children presenting with motor delay/impairment early in life is to identify neurogenetic disorders with a clinical phenotype, which... 
Neurology | Cerebral palsy | Neurosciences | Biomedicine | Masqueraders | Internal Medicine | Spastic, dyskinetic, and ataxic phenotypes | Neurogenetic | RISK-FACTORS | PRETERM INFANTS | NEUROSCIENCES | COENZYME-Q10 DEFICIENCY | CEREBELLAR-ATAXIA | INTRAVENTRICULAR HEMORRHAGE | ACIDURIA TYPE-I | GLUTARIC ACIDURIA | GLOBUS-PALLIDUS INTERNUS | PELIZAEUS-MERZBACHER DISEASE | DEEP BRAIN-STIMULATION | Brain - embryology | Leukoencephalopathies - genetics | Genomics | Humans | Movement Disorders - diagnosis | Child, Preschool | Male | Nervous System Diseases - diagnosis | Stroke - congenital | Exome | Asphyxia Neonatorum - genetics | Brain Diseases, Metabolic - diagnosis | Cerebral Palsy - diagnosis | Leukoencephalopathies - diagnosis | Chromosome Disorders - diagnosis | Child | Hypoxia, Brain - diagnosis | Infant, Newborn | Brain Diseases, Metabolic - genetics | Neurotransmitter Agents - metabolism | Lysosomal Storage Diseases, Nervous System - genetics | Movement Disorders - genetics | Muscle Spasticity - genetics | Cerebral Palsy - genetics | Hypoxia, Brain - genetics | Cell Movement | Tissue Array Analysis | Stroke - diagnosis | Genetic Diseases, Inborn - genetics | Developmental Disabilities - genetics | Nervous System Diseases - genetics | Molecular Diagnostic Techniques | Diagnostic Errors | Asphyxia Neonatorum - diagnosis | Adult | Female | Birth Injuries - genetics | Developmental Disabilities - diagnosis | Genetic Diseases, Inborn - diagnosis | Globus Pallidus - pathology | Lysosomal Storage Diseases, Nervous System - diagnosis | Mitochondrial Diseases - genetics | Diagnosis, Differential | Genome-Wide Association Study | Leukoencephalopathies - metabolism | Birth Injuries - diagnosis | Muscle Spasticity - diagnosis | Chromosome Disorders - genetics | Mitochondrial Diseases - diagnosis | Medical colleges | Molecular genetics | Children's hospitals | Development and progression | Diagnostic imaging | Diagnosis | masqueraders | dyskinetic and ataxic phenotypes | neurogenetic | spastic
Journal Article
Rheumatology (United Kingdom), ISSN 1462-0324, 04/2017, Volume 56, Issue 1, pp. i14 - i23
Neurological and psychiatric syndromes, collectively referred to as NPSLE, occur frequently in SLE. The frequency of NPSLE varies from 21 to 95%; however, only... 
neuropsychiatric systemic lupus erythematosus | diagnosis | attribution model | DEVICS-SYNDROME | INCEPTION COHORT | ANTIPHOSPHOLIPID ANTIBODIES | REVERSIBLE ENCEPHALOPATHY SYNDROME | RHEUMATOLOGY | INFLAMMATORY DEMYELINATING POLYRADICULONEUROPATHY | COGNITIVE DYSFUNCTION | NEUROMYELITIS-OPTICA | MONONEURITIS MULTIPLEX | OF-THE-LITERATURE | CLASSIFICATION CRITERIA | Spinal Cord Diseases - diagnosis | Lupus Erythematosus, Systemic - complications | Mood Disorders - psychology | Meningitis, Aseptic - physiopathology | Spinal Cord Diseases - physiopathology | Humans | Meningitis, Aseptic - etiology | Anxiety Disorders - diagnosis | Mononeuropathies - physiopathology | Epilepsy - physiopathology | Epilepsy - etiology | Lupus Vasculitis, Central Nervous System - psychology | Mood Disorders - etiology | Psychotic Disorders - physiopathology | Polyneuropathies - diagnosis | Cognitive Dysfunction - psychology | Cognitive Dysfunction - diagnosis | Cranial Nerve Diseases - physiopathology | Neuromyelitis Optica - diagnosis | Cerebrovascular Disorders - physiopathology | Psychotic Disorders - diagnosis | Diagnosis, Differential | Lupus Erythematosus, Systemic - psychology | Lupus Vasculitis, Central Nervous System - diagnosis | Psychotic Disorders - psychology | Lupus Vasculitis, Central Nervous System - etiology | Mononeuropathies - diagnosis | Polyneuropathies - physiopathology | Cognitive Dysfunction - etiology | Cognitive Dysfunction - physiopathology | Anxiety Disorders - etiology | Anxiety Disorders - psychology | Cerebrovascular Disorders - etiology | Cranial Nerve Diseases - diagnosis | Epilepsy - diagnosis | Mononeuropathies - etiology | Posterior Leukoencephalopathy Syndrome - diagnosis | Lupus Vasculitis, Central Nervous System - physiopathology | Cranial Nerve Diseases - etiology | Cerebrovascular Disorders - diagnosis | Spinal Cord Diseases - etiology | Polyneuropathies - etiology | Meningitis, Aseptic - diagnosis | Mood Disorders - diagnosis | Lupus Erythematosus, Systemic - physiopathology | Mood Disorders - physiopathology | Anxiety Disorders - physiopathology | Psychotic Disorders - etiology
Journal Article
Annals of Neurology, ISSN 0364-5134, 2014, Volume 76, Issue 6, pp. 792 - 801
Journal Article
Neurology, ISSN 0028-3878, 04/2016, Volume 86, Issue 16, pp. 1516 - 1523
Journal Article
by Shi, TJ and Li, J and Tan, C and Chen, JJ
MEDICINE, ISSN 0025-7974, 05/2019, Volume 98, Issue 22, p. e15802
Rationale: Hereditary diffuse leukoencephalopathy with neuroaxonal spheroids (HDLS) is a rare disease with white matter lesions of the central nervous system,... 
genetic family trees | hereditary diffuse leukoencephalopathy | MEDICINE, GENERAL & INTERNAL | HDLS | MUTATIONS | new mutation site | Case studies | Genetic disorders | Nervous system | Genetic aspects | Degeneration | Diagnosis | Leukoencephalopathy
Journal Article
Journal Article
Journal Article
by Xu, WR and Zhao, JL and Zhu, YC and Zhang, WH
MEDICINE, ISSN 0025-7974, 01/2017, Volume 96, Issue 1, p. e5545
Rational: Cerebroretinal microangiopathy with calcifications and cysts (CRMCC) is believed to be an autosomal recessive genetic disease, with disorders in... 
inherited diseases | CTC1 | cerebral calcification | cerebroretinal microangiopathy with calcifications and cysts | COMPONENT 1 | MEDICINE, GENERAL & INTERNAL | DISEASE | leukoencephalopathy | DISORDER | case report | MUTATIONS | Calcinosis - genetics | Aftercare - methods | Retinal Diseases - genetics | Brain - diagnostic imaging | Calcinosis - diagnosis | Leukoencephalopathies - genetics | Central Nervous System Cysts - physiopathology | Seizures - genetics | Humans | Brain Neoplasms - physiopathology | Retinal Diseases - therapy | Leukoencephalopathies - physiopathology | Proton Magnetic Resonance Spectroscopy - methods | Muscle Spasticity - therapy | Seizures - physiopathology | Telomere-Binding Proteins - genetics | Leukoencephalopathies - diagnosis | Adult | Central Nervous System Cysts - diagnosis | Female | Ataxia - genetics | Central Nervous System Cysts - therapy | Neuroimaging - methods | Ataxia - physiopathology | Ataxia - therapy | Diagnosis, Differential | Retinal Diseases - diagnosis | Brain Neoplasms - diagnosis | Brain Neoplasms - genetics | Seizures - diagnosis | Seizures - therapy | Ataxia - diagnosis | Disease Progression | Central Nervous System Cysts - genetics | Calcinosis - therapy | Brain Neoplasms - therapy | Brain - pathology | Muscle Spasticity - diagnosis | Leukoencephalopathies - therapy | Disease Management | Muscle Spasticity - physiopathology | Mutation | Retinal Diseases - physiopathology | Muscle Spasticity - genetics | Calcinosis - physiopathology | Care and treatment | Usage | Vasculitis | Diagnosis | Cysts | Lasers in surgery
Journal Article
Neurology, ISSN 0028-3878, 2009, Volume 72, Issue 8, pp. 750 - 759
Journal Article