scholarly article | Q13442814 |
P2093 | author name string | R Raininko | |
A Smits | |||
A Melberg | |||
H Kalimo | |||
J Sundblom | |||
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Genetic localization of an autosomal dominant leukodystrophy mimicking chronic progressive multiple sclerosis to chromosome 5q31 | Q73631332 | ||
Phenotypic variation in leukoencephalopathy with vanishing white matter | Q77114396 | ||
MRI nerve root enhancement in Krabbe disease | Q77322739 | ||
Adult-onset autosomal dominant leukodystrophy with autonomic symptoms restricted to 1.5 Mbp on chromosome 5q23 | Q79846739 | ||
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Spinal cord and cauda equina MRI findings in metachromatic leukodystrophy: case report | Q80380429 | ||
The earliest MR imaging and proton MR spectroscopy abnormalities in adult-onset Krabbe disease | Q81157266 | ||
Mitochondrial aspartyl-tRNA synthetase deficiency causes leukoencephalopathy with brain stem and spinal cord involvement and lactate elevation | Q24300846 | ||
Leukoencephalopathy With Vanishing White Matter: From Magnetic Resonance Imaging Pattern to Five Genes | Q28211740 | ||
Lamin B1 duplications cause autosomal dominant leukodystrophy | Q28261772 | ||
Hereditary adult-onset leukodystrophy simulating chronic progressive multiple sclerosis | Q28269039 | ||
Autosomal dominant palatal myoclonus and spinal cord atrophy | Q30676384 | ||
Brainstem signs with progressing atrophy of medulla oblongata and upper cervical spinal cord | Q31112970 | ||
Mutations in GFAP, encoding glial fibrillary acidic protein, are associated with Alexander disease | Q33929961 | ||
X-linked adrenoleukodystrophy. | Q34002811 | ||
Can MR imaging diagnose adult-onset Alexander disease? | Q34767638 | ||
What can cell biology tell us about heterogeneity in lysosomal storage diseases? | Q36128577 | ||
A Japanese family with probably autosomal dominant adult-onset leukodystrophy | Q36837147 | ||
Autosomal dominant late-onset leukoencephalopathy. Clinical report of a new Italian family. | Q36844716 | ||
Adult-onset Alexander disease with progressive ataxia and palatal tremor. | Q38503845 | ||
Hereditary adult-onset Alexander's disease with palatal myoclonus, spastic paraparesis, and cerebellar ataxia | Q39440763 | ||
C-terminal truncations in human 3'-5' DNA exonuclease TREX1 cause autosomal dominant retinal vasculopathy with cerebral leukodystrophy | Q40101085 | ||
Adult onset leucoencephalopathy with brain stem and spinal cord involvement and normal lactate. | Q42765214 | ||
Identification of GFAP gene mutation in hereditary adult-onset Alexander's disease | Q44226812 | ||
A new leukoencephalopathy with brainstem and spinal cord involvement and high lactate | Q44296120 | ||
Computed Tomography and Magnetic Resonance Imaging in Adult-Onset Leukodystrophy | Q44797596 | ||
Five new cases of a recently described leukoencephalopathy with high brain lactate | Q45028147 | ||
An adult form of Alexander disease: a novel mutation in glial fibrillary acidic protein | Q46952451 | ||
Leukoencephalopathy with brainstem and spinal cord involvement and high brain lactate: report of three Brazilian patients | Q48089785 | ||
Leukoencephalopathy with vanishing white matter:: an adult onset case | Q48107080 | ||
Familial, adult onset form of leukoencephalopathy with brain stem and spinal cord involvement: inconstant high brain lactate and very slow disease progression | Q48177013 | ||
Adult Alexander disease with autosomal dominant transmission: a distinct entity caused by mutation in the glial fibrillary acid protein gene | Q48197979 | ||
Neuro-ophthalmic, radiographic, and pathologic manifestations of adult-onset Alexander disease | Q48275649 | ||
Images in clinical medicine. Neurologic manifestations of vitamin B12 deficiency | Q48296319 | ||
A kindred of hereditary adult-onset leukodystrophy with sparing of the optic radiations | Q48351364 | ||
MR characteristics and neuropathology in adult-onset autosomal dominant leukodystrophy with autonomic symptoms. | Q48586287 | ||
MRI of autosomal dominant pure spastic paraplegia | Q48603622 | ||
Alexander disease: ventricular garlands and abnormalities of the medulla and spinal cord | Q48634822 | ||
MRI and CT in an autosomal-dominant, adult-onset leukodystrophy | Q48690741 | ||
A new leukoencephalopathy with vanishing white matter | Q48745750 | ||
A magnetic resonance imaging study of the cervical cord of patients with CADASIL. | Q48868589 | ||
Dominantly-inherited adult-onset leukodystrophy with palatal tremor caused by a mutation in the glial fibrillary acidic protein gene. | Q50282875 | ||
Clinical and pathological features of an autosomal dominant, adult-onset leukodystrophy simulating chronic progressive multiple sclerosis. | Q50523976 | ||
Autosomal dominant diffuse leukoencephalopathy with neuroaxonal spheroids. | Q51082908 | ||
P433 | issue | 2 | |
P304 | page(s) | 328-335 | |
P577 | publication date | 2008-10-22 | |
P1433 | published in | American Journal of Neuroradiology | Q15762571 |
P1476 | title | MR imaging characteristics and neuropathology of the spinal cord in adult-onset autosomal dominant leukodystrophy with autonomic symptoms | |
P478 | volume | 30 |
Q58328211 | A family with autosomal dominant leukodystrophy linked to 5q23.2-q23.3 without lamin B1 mutations |
Q35585276 | A large genomic deletion leads to enhancer adoption by the lamin B1 gene: a second path to autosomal dominant adult-onset demyelinating leukodystrophy (ADLD) |
Q44157477 | Adult-onset autosomal dominant leukodystrophy without early autonomic dysfunctions linked to lamin B1 duplication: a phenotypic variant |
Q34161111 | Adult-onset autosomal dominant leukodystrophy: linking nuclear envelope to myelin |
Q41037772 | An LMNB1 Duplication Caused Adult-Onset Autosomal Dominant Leukodystrophy in Chinese Family: Clinical Manifestations, Neuroradiology and Genetic Diagnosis |
Q37022111 | Analysis of LMNB1 duplications in autosomal dominant leukodystrophy provides insights into duplication mechanisms and allele-specific expression |
Q34135932 | Autosomal Dominant Leukodystrophy Caused by Lamin B1 Duplications: A Clinical and Molecular Case Study of Altered Nuclear Function and Disease |
Q38174963 | B-type lamins in health and disease |
Q28386748 | Defects of Lipid Synthesis Are Linked to the Age-Dependent Demyelination Caused by Lamin B1 Overexpression |
Q83172467 | Genomic duplications mediate overexpression of lamin B1 in adult-onset autosomal dominant leukodystrophy (ADLD) with autonomic symptoms |
Q64982596 | Glucose metabolism in the brain in LMNB1-related autosomal dominant leukodystrophy. |
Q35745338 | Hereditary diffuse leukoencephalopathy with axonal spheroids (HDLS): a misdiagnosed disease entity |
Q60697196 | Independent spinal cord atrophy measures correlate to motor and sensory deficits in individuals with spinal cord injury |
Q37320305 | LMNB1-related autosomal-dominant leukodystrophy: Clinical and radiological course |
Q39010727 | Lamin B1 mediated demyelination: Linking Lamins, Lipids and Leukodystrophies |
Q34072629 | Lamin B1 overexpression increases nuclear rigidity in autosomal dominant leukodystrophy fibroblasts |
Q30538309 | Magnetic resonance imaging and genetic investigation of a case of Rottweiler leukoencephalomyelopathy |
Q38185206 | Regulation of Myelination in the Central Nervous System by Nuclear Lamin B1 and Non-coding RNAs |
Q42164426 | Spinal MR imaging in Vitamin B12 deficiency: Case series; differential diagnosis of symmetrical posterior spinal cord lesions |
Q30620787 | ¹H-MR spectroscopy of adult-onset autosomal dominant leukodystrophy with autonomic symptoms |
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