Matches in SemOpenAlex for { <https://semopenalex.org/work/W2000369953> ?p ?o ?g. }
Showing items 1 to 75 of
75
with 100 items per page.
- W2000369953 endingPage "2449" @default.
- W2000369953 startingPage "2448" @default.
- W2000369953 abstract "Hyperintensity of the cerebellar cortex on T2-weighted images is a rare finding and has been considered pathognomonic for infantile neuroaxonal dystrophy (INAD).1 However, we present three children with Marinesco–Sjogren syndrome (MSS; OMIM 248800) and hyperintense cerebellar cortex on MRI. Additional findings were widened cerebellar fissures, an enlarged fourth ventricle, reduced N -acetylaspartate, and elevated myo-inositol on 1H-MR spectroscopy (MRS) of the cerebellum.### Patients.Patient 1 is the 5-year-old son of consanguineous parents; Patients 2 (girl, age 7 years) and 3 (boy, age 14 months) are siblings of nonconsanguineous parents. Hypotonia, developmental delay, strabismus, and short stature were present in all patients. Ataxia was present in Patients 1 and 2. Tendon reflexes were normal, and pyramidal tract signs were absent. Bilateral cataracts were diagnosed in Patient 1 (age 4.5 years) and Patient 2 (age 6.8 years). At age 14 months, cataracts had not yet developed in Patient 3.Serum creatine (Cr) kinase levels were normal in Patient 1 and slightly elevated in Patients 2 and 3. Extensive …" @default.
- W2000369953 created "2016-06-24" @default.
- W2000369953 creator A5022684911 @default.
- W2000369953 creator A5030949335 @default.
- W2000369953 creator A5033179130 @default.
- W2000369953 creator A5049804598 @default.
- W2000369953 creator A5052843444 @default.
- W2000369953 creator A5053958622 @default.
- W2000369953 creator A5080719132 @default.
- W2000369953 creator A5082504358 @default.
- W2000369953 creator A5084051379 @default.
- W2000369953 date "2004-12-28" @default.
- W2000369953 modified "2023-10-03" @default.
- W2000369953 title "T2-hyperintense cerebellar cortex in Marinesco–Sjögren syndrome" @default.
- W2000369953 cites W1973528459 @default.
- W2000369953 cites W1982091108 @default.
- W2000369953 cites W2050386122 @default.
- W2000369953 cites W2411293408 @default.
- W2000369953 doi "https://doi.org/10.1212/01.wnl.0000147324.74071.3e" @default.
- W2000369953 hasPubMedId "https://pubmed.ncbi.nlm.nih.gov/15623732" @default.
- W2000369953 hasPublicationYear "2004" @default.
- W2000369953 type Work @default.
- W2000369953 sameAs 2000369953 @default.
- W2000369953 citedByCount "15" @default.
- W2000369953 countsByYear W20003699532013 @default.
- W2000369953 countsByYear W20003699532015 @default.
- W2000369953 countsByYear W20003699532016 @default.
- W2000369953 countsByYear W20003699532017 @default.
- W2000369953 countsByYear W20003699532018 @default.
- W2000369953 countsByYear W20003699532021 @default.
- W2000369953 countsByYear W20003699532023 @default.
- W2000369953 crossrefType "journal-article" @default.
- W2000369953 hasAuthorship W2000369953A5022684911 @default.
- W2000369953 hasAuthorship W2000369953A5030949335 @default.
- W2000369953 hasAuthorship W2000369953A5033179130 @default.
- W2000369953 hasAuthorship W2000369953A5049804598 @default.
- W2000369953 hasAuthorship W2000369953A5052843444 @default.
- W2000369953 hasAuthorship W2000369953A5053958622 @default.
- W2000369953 hasAuthorship W2000369953A5080719132 @default.
- W2000369953 hasAuthorship W2000369953A5082504358 @default.
- W2000369953 hasAuthorship W2000369953A5084051379 @default.
- W2000369953 hasConcept C142724271 @default.
- W2000369953 hasConcept C15744967 @default.
- W2000369953 hasConcept C169760540 @default.
- W2000369953 hasConcept C2779652256 @default.
- W2000369953 hasConcept C2992333117 @default.
- W2000369953 hasConcept C71924100 @default.
- W2000369953 hasConceptScore W2000369953C142724271 @default.
- W2000369953 hasConceptScore W2000369953C15744967 @default.
- W2000369953 hasConceptScore W2000369953C169760540 @default.
- W2000369953 hasConceptScore W2000369953C2779652256 @default.
- W2000369953 hasConceptScore W2000369953C2992333117 @default.
- W2000369953 hasConceptScore W2000369953C71924100 @default.
- W2000369953 hasIssue "12" @default.
- W2000369953 hasLocation W20003699531 @default.
- W2000369953 hasLocation W20003699532 @default.
- W2000369953 hasOpenAccess W2000369953 @default.
- W2000369953 hasPrimaryLocation W20003699531 @default.
- W2000369953 hasRelatedWork W1992798574 @default.
- W2000369953 hasRelatedWork W2032005995 @default.
- W2000369953 hasRelatedWork W2067283995 @default.
- W2000369953 hasRelatedWork W2072802414 @default.
- W2000369953 hasRelatedWork W2082516517 @default.
- W2000369953 hasRelatedWork W2103804105 @default.
- W2000369953 hasRelatedWork W2132322064 @default.
- W2000369953 hasRelatedWork W2150666125 @default.
- W2000369953 hasRelatedWork W2807713007 @default.
- W2000369953 hasRelatedWork W4309634131 @default.
- W2000369953 hasVolume "63" @default.
- W2000369953 isParatext "false" @default.
- W2000369953 isRetracted "false" @default.
- W2000369953 magId "2000369953" @default.
- W2000369953 workType "article" @default.