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Abnormality of the periventricular white matter

Known as: Periventricular white matter abnormalities, White matter abnormalities, periventricular 
National Institutes of Health

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Leukodystrophy, Dysmyelinating, And Spastic Paraparesis With Or Without DystoniaMULTIPLE MITOCHONDRIAL DYSFUNCTIONS SYNDROME 4Metachromatic Leukodystrophy due to Saposin B DeficiencyMultiple Sulfatase Deficiency Disease

Papers overview

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2018
2018
Partial loss of function of colony‐stimulating factor 1 receptor in a patient with white matter abnormalities
Mutations in colony‐stimulating factor 1 receptor (CSF1R) cause adult‐onset leukoencephalopathy with axonal spheroids and… 
2013
2013
6p25 microdeletion: White matter abnormalities in an adult patient
We report on a 41‐year‐old woman of normal intelligence with a complicated past medical history including unilateral profound… 
Highly Cited
2012
Highly Cited
2012
Cognitive outcome of patients with classic infantile Pompe disease receiving enzyme therapy
Objective: Classic infantile Pompe disease affects many tissues, including the brain. Untreated infants die within their first… 
Review
2011
Review
2011
Hypomyelination and congenital cataract: broadening the clinical phenotype.
OBJECTIVE To further delineate the clinical spectrum of hypomyelination and congenital cataract (HCC), a rare autosomal recessive… 
2006
2006
Interleukin-10 High Producer Allele and Ultrasound-Defined Periventricular White Matter Abnormalities in Preterm Infants: A Preliminary Study
Objectives: Study Design: Results: Conclusion: 
Highly Cited
2001
Highly Cited
2001
Magnetic resonance and cranial ultrasound characteristics of periventricular white matter abnormalities in newborn infants.
OBJECTIVE To characterize the range of abnormalities within the periventricular white matter (PVWM) in a cohort of newborns using… 
1999
1999
Pontocerebellar Hypoplasia Associated with Respiratory-Chain Defects
(Walker-Warburg Fukuyama 
Review
1999
Review
1999
A Critical Review of Cranial Ultrasounds: Is There a Closer Association Between Intraventricular Blood, White Matter Abnormalities or Cysts, and Cerebral Palsy?
In an attempt to determine cranial ultrasonographic features of preterm infants with intraventricular hemorrhage (IVHI) and/or… 
Review
1994
Review
1994
Orbital and optic pathway sarcoidosis: MR findings.
PURPOSE To identify and characterize the MR findings of sarcoidosis when it involves the orbit and visual pathways. METHODS The… 
1992
1992
Eye movements in myotonic dystrophy.
Smooth pursuit eye movements were studied with infrared reflection equipment in 10 patients with myotonic dystrophy and in 10 age… 
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