Differential (Click to cross reference) abscess, intracranial acanthocytosis achilles tendon, enlarged aciduria acute disseminated encephalomyelitis adult polyglucosan body disease adult-onset leukodystrophy, with neuroaxonal spheroids adverse drug reaction akathisia algorithm alternating hemiplegia alternating hemiplegia of childhood amimia ammonia amyloid angiopathy, cerebral amyloid angiopathy, cerebral, Dutch type aneurysm anterior tibial muscle weakness antiviral agents aphasia areflexia arthrogryposis multiplex ataxia ataxia, cerebellar ataxia, progressive ataxic-dystonia syndromes ATP1A3 gene attention deficit disorder with hyperactivity atypical autoantibodies autoimmune basal ganglia encephalitis autoimmune disease autoimmune meningitis autonomic dysfunction axonal degeneration axonal spheroid Babinski sign basal ganglia, lesion, bilateral behavioral disorder beta-D-glucon bladder dysfunction brain atrophy brain biopsy brain biopsy, false negative brain biopsy, indication brainstem, atrophy brainstem, lesion of bronchoscopy bruising bulbar palsy calcification, gyral calcification, intracranial candida albicans cane cardiomyopathy CAT scan, abnormal CAT scan, disappearing lesion on CAT scan, emission, abnormal catalepsy cataplexy central nervous system, infection of cerebellar ataxia, children cerebellar atrophy, primary cerebellar atrophy, secondary cerebellar degeneration cerebral autosomal dominate arteriopathy with subcortical infarction and leukoencephalopathy cerebral autosomal recessive arteriopathy with subcortical infarction and leukoencephalopathy cerebral cortex cerebral cortical atrophy cerebral infarction, subcortical cerebral palsy cerebral palsy, etiology cerebral palsy, work up cerebrospinal fluid cerebrospinal fluid, abnormal cerebrospinal fluid, beta-D-glucan cerebrospinal fluid, lactic acid concentration cerebrospinal fluid, proteincytologic dissociation cerebrovascular accident cerebrovascular accident, cryptogenic cerebrovascular accident, mimics cerebrovascular accident, nonvascular territory cerebrovascular accident, young adult chemical meningitis chest x-ray, abnormal chewing movements children chorea choreoathetosis chromosomal abnormality cingulate gyrus Clinical Pathologic Conference(C.P.C.) clonus clubfoot as related to neurologic disease Coats plus cobalamin C deficiency cognition coinfection cold intolerance collagen vascular disease coma coma, sudden onset complications confabulation confusion congenital myasthenic syndromes consanguinity corpus callosum corpus callosum, hypoplastic corpus callosum, lesion of corpus callosum, thinning cortical ribbon sign cranial nerve enhancement cranial neuropathy creatine phosphokinase(CPK)elevated crying, pathologic cryptococcal meningitis cyst cyst, benign intracranial cyst, cortical parenchyma cyst, parenchymal cystatin C mutation deafness degenerative diseases of CNS delay in diagnosis delayed muscle relaxation dementia dementia, presenile dementia, rapidly progressive dental infection developmental disability developmental retardation diabetes mellitus diagnostic criteria diet differential diagnosis difficulty climbing stairs difficulty going down stairs diplopia disease modifying agents distal muscle atrophy distal muscle weakness DNA sequencing dopa responsive dystonia double-cortex syndrome drug induced neurologic disorders dysarthria dysdiadochokinesia DYSF gene dysferlinopathy dysmetria dysmorphic dysphagia dystonia dystonia, children Ehlers-Danlos syndrome Ehlers-Danlos syndrome, classification electromyogram empyema, subdural encephalitis encephalitis, acute encephalitis, autoimmune encephalitis, diagnosis of encephalitis, etiology encephalitis, Japanese encephalitis, viral-causes of encephalopathy encephalopathy, acute eosinophilia Erdheim-Chester disease executive dysfunction exome sequencing Fabry's disease facial appearance, abnormal facial weakness falling false negative familial fasciculation fatal familial insomnia fatigue feeding disorder fever fibrillations fine motor function, impaired fish floppy infant foam cells fourth ventricle, compression fungal infection fungal infection, CNS gait disorder gait speed gait, spastic GAMT gene gaze palsy, supranuclear gaze palsy, vertical gene gene mutation genetic counselling genetic neurologic disorders genetic screening genetic testing geographic location globus pallidus, lesion of, bilateral GLUT1 deficiency syndrome glycogen storage disease gram positive cocci gray hair hammertoes headache headache, awakening with headache, positional headache, progressive hearing loss heel swelling helminthic infection of CNS hemianopia, homonymous hemiparesis, transient hemophagocytic lymphohistiocytosis hepatomegaly hepatosplenomegaly heralding manifestation herpes simplex encephalitis heterotopia HHH syndrome high arched feet high arched palate histiocytosis human genome hydrocephalus hydrocephalus, non-communicating(obstructive) hyperammonemic encephalopathy hyperhomocysteinemia hyperreflexia hypoglycorrhachia hypogonadism hypogonadism, hypogonadotropic hyporeflexia hypotonia hypotonia, causes of hypotonia, infants imbalance immunocompetent immunomodulation immunosuppression immunosuppressive agents immunotherapy inattention inborn errors of metabolism inclusion bodies, intranuclear incoordination India infection insight, loss insomnia insular cortex insular cortex, lesion intellectual deficit interstitial pulmonary fibrosis intracerebral hemorrhage intravenous drug abuse intrinsic hand muscles, wasting of jaundice Jewish joint hypermobility Krabbe's disease lactate lactic acidemia lacunar infarction laughing, pathologic Leber's hereditary optic neuropathy leg weakness, bilateral leukodystrophy leukoencephalopathy leukoencephalopathy with calcification and cysts level of consciousness, decreased lid lid abnormalities life expectancy limb-girdle weakness linear lesion lipid storage disorder of CNS lung nodule lung-brain syndromes lysosomal storage disease malformation, CNS, congenital malignancy screen McLeod syndrome megalencephaly MELAS syndrome memory, defect of recent memory, impairment of meningeal enhancement meningeal sarcomatosis meningitis meningitis, aseptic meningitis, bacterial meningitis, basilar meningitis, candida meningitis, carcinomatous meningitis, chronic meningitis, diagnosis meningitis, fungal meningitis, helminthic meningitis, neutrophilic meningitis, noninfectious meningitis, parameningeal meningitis, parasitic meningitis, TB meningitis, treatment of meningitis, treatment of, empirical meningitis, viral meningitis, viral etiology in meningitis-encephalitis PCR panel mental retardation mental status, abnormal mestinon metabolic acidosis methylmalonic acidemia microcephaly microhemorrhage, intracerebral middle cerebellar peduncle middle cerebellar peduncle, lesion middle cerebellar peduncle, lesion, bilateral miglustat migraine mimics mineralization misdiagnosis mitochondrial disease mitochondrial encephalomyopathy molecular genetics mortality motor neuron disease movement disorder moyamoya moyamoya, adult MRI, abnormal MRI, blooming effect MRI, contrast enhanced MRI, diffusion weighted MRI, mass effect on MRI, muscle MRI, negative MRI, nodular enhancement MRI, spinal cord muscle atrophy, progressive muscle biopsy muscle stiffness muscle twitching muscle wasting, diffuse muscle weakness, proximal muscular dystrophy muscular dystrophy, limb-girdle mutism myasthenia gravis myasthenia gravis, congenital myasthenia gravis, misdiagnosis of myasthenia gravis, seronegative myasthenia gravis, treatment of myelomalacia myeloneuropathy myelopathy myoclonic jerks myoclonus myopathy myopathy, vacuolar nasal speech nausea and vomiting neck weakness needle tracks neonatal intensive care unit neonatal screening, genetic neurologic disorders neurologic complications of, systemic disease neurologic disease neurologic disease, diagnoses of neurologic examination, focal neuromyotonia neuromyotonia and axonal neuropathy neuronal intranuclear inclusion disease neuronopathy, sensory neuroophthalmology neuropathy neuropathy, demyelinating neurotomy newborn, evaluation of next-generation sequencing Niemann-Pick disease night blindness normal NOTCH2NLC nystagmus nystagmus, gaze-evoked occipital lobe ocular motility, disorders of opened mouth ophthalmoplegia opportunistic infection opportunistic infection, CNS organomegaly ornithine transcarbamylase deficiency ovarian dysgenesis pachygyria papilledema paragonimiasis paraparesis, familial spastic paraparesis, familial spastic, classification paraparesis, spastic parasitic infection, CNS Parkinsonism syndrome paroxysmal neurologic deficits pathologic reflex peripheral blood smear Perrault syndrome pes cavus philtrum, tented phonophobia photophobia PICU pleocytosis of cerebrospinal fluid pleocytosis of cerebrospinal fluid, neutrophilic POLG1 gene polyglucosan body disease polymerase chain reaction polymicrogyria Pompe's disease of glycogen storage pons, lesion of precipitating factors prion disease prognosis progressive neurologic disorder proximal muscle atrophy pseudobulbar palsy pseudoxanthoma elasticum psychiatric problems in neurologic disorders psychological testing psychomotor retardation psychosis psychotic behavior ptosis ptosis, bilateral pyramidal tract pyramidal tract dysfunction pyruvate dehydrogenase deficiency pyruvate metabolism, abnormality of quadriplegia ragged-red fibers recurrent release phenomena ReNU syndrome respiratory tract infection retinopathy review article risk factors Romberg's sign salivation, excessive sarcoidosis, CNS schizophrenia scissors gait scotoma screening sedimentation rate, elevated seizure seizure, focal seizure, laughing as manifestation sensorineural hearing loss seronegative short stature shunt procedure, ventricular shunt procedure, ventricular-complications of skin, biopsy skin, hyperextensible skin, lesions in neurologic disorders skin, thin skin, translucent sleep pathology and physiology small vessel disease small vessel disease, cerebral spastic ataxia spastic paraplegia, type 7 spasticity speech disorder speech, absence of spinal cord, lesion of spinocerebellar ataxia spinocerebellar ataxia type 28 spinocerebellar degeneration splenomegaly standing difficulty status epilepticus striatal encephalitis strokelike episodes subarachnoid hemorrhage symmetric brain lesions systemic illness tandem gait, ataxic telangiectases, retinal temporal lobe, lesion temporal lobe, lesion, bilateral thalamus, lesion of thalamus, lesion of-bilateral tinnitus toe walking tone, muscle, increased tongue, enlarged treatment of neurologic disorder treatment, empirical tremor tremor, intention trinucleotide repeats tripping tumefactive lesion urea-cycle enzymopathies urinary incontinence urinary urgency vasculitides vasculopathy vegetarianism vestibular migraine viral infection viral infection, CNS vision loss, sequential vision, blurred visual field defect visual loss visual loss, progressive visual loss, transient visual obscurations, transient visuospatial disturbance walking, delayed walking, difficulty with weakness weakness, fatiguable weakness, generalized weakness, progressive weakness, proximal weight loss wheelchair white matter disease white matter disease, subcortical white matter disease, unilateral whole genome sequencing wide based gait winging of scapula workup wound healing, poor x-linked intellectual deficit x-linked mental retardation

Showing articles 50 to 52 of 52 << Previous Diagnostic Exome, Sequencing in Persons with Severe Intellectual Disability NEJM 367:1921-1929, Ligt, J.,et al, 2012 Diagnostic Exome Sequencing in Persons with Severe Intellectual Disability NEJM 367:1921-1929, Ligt, J.,et al, 2012 Clinical Study of Nine Patients with ReNU Syndrome , Okamoto,N.,et al, Showing articles 50 to 52 of 52 << Previous