Literature DB >> 8107989

Hypoplasia of the corpus callosum in Niemann-Pick type C disease.

S Palmeri1, C Battisti, A Federico, G C Guazzi.   

Abstract

In two unrelated patients with Niemann-Pick type C disease MRI showed symmetrical cerebral and cerebellar atrophy and hypoplasia of the corpus callosum. T2-weighted images in one showed high signal areas in the posterior white matter.

Entities:  

Mesh：

Year:  1994        PMID： 8107989     DOI： 10.1007/bf00599187

Source DB:  PubMed          Journal:  Neuroradiology        ISSN： 0028-3940            Impact factor:   2.804


  9 in total

1.  Agenesis of the corpus callosum: a marker for inherited metabolic disease?

Authors:  E H Kolodny
Journal:  Neurology       Date:  1989-06       Impact factor: 9.910

2.  Abnormalities of corpus callosum in patients with inherited metabolic diseases.

Authors:  F Bamforth; S Bamforth; K Poskitt; D Applegarth; J Hall
Journal:  Lancet       Date:  1988-08-20       Impact factor: 79.321

Review 3.  Clinicopathological findings associated with agenesis of the corpus callosum.

Authors:  J S Jeret; D Serur; K E Wisniewski; R A Lubin
Journal:  Brain Dev       Date:  1987       Impact factor: 1.961

4.  The value of CT in diagnosis and prognosis of different inborn neurodegenerative disorders in childhood.

Authors:  S Wende; B Ludwig; T Kishikawa; M Rochel; J Gehler
Journal:  J Neurol       Date:  1984       Impact factor: 4.849

5.  Niemann-Pick disease group C: clinical variability and diagnosis based on defective cholesterol esterification. A collaborative study on 70 patients.

Authors:  M T Vanier; D A Wenger; M E Comly; R Rousson; R O Brady; P G Pentchev
Journal:  Clin Genet       Date:  1988-05       Impact factor: 4.438

6.  Type C Niemann-Pick disease. A parallel loss of regulatory responses in both the uptake and esterification of low density lipoprotein-derived cholesterol in cultured fibroblasts.

Authors:  P G Pentchev; H S Kruth; M E Comly; J D Butler; M T Vanier; D A Wenger; S Patel
Journal:  J Biol Chem       Date:  1986-12-15       Impact factor: 5.157

7.  Juvenile dystonic lipidosis (variant of Niemann-Pick disease type C).

Authors:  J J Martin; A Lowenthal; C Ceuterick; M T Vanier
Journal:  J Neurol Sci       Date:  1984-10       Impact factor: 3.181

8.  [Changes in the biosynthesis, esterification and efflux of cholesterol in fibroblasts in culture from patients with Niemann-Pick disease type C].

Authors:  J C Mazière; C Mazière; L Mora; A Lageron; C Polonovski; J Polonovski
Journal:  C R Seances Soc Biol Fil       Date:  1986

9.  Clinical spectrum of Niemann-Pick disease type C.

Authors:  J K Fink; M R Filling-Katz; J Sokol; D G Cogan; A Pikus; B Sonies; B Soong; P G Pentchev; M E Comly; R O Brady
Journal:  Neurology       Date:  1989-08       Impact factor: 9.910
  9 in total
  12 in total

1.  PMP22 Regulates Cholesterol Trafficking and ABCA1-Mediated Cholesterol Efflux.

Authors:  Ye Zhou; Joshua R Miles; Hagai Tavori; Min Lin; Habibeh Khoshbouei; David R Borchelt; Hannah Bazick; Gary E Landreth; Sooyeon Lee; Sergio Fazio; Lucia Notterpek
Journal:  J Neurosci       Date:  2019-05-06       Impact factor: 6.167

Review 2.  Inborn errors of metabolism for the diagnostic radiologist.

Authors:  Chris J Hendriksz
Journal:  Pediatr Radiol       Date:  2008-12-13

3.  Selective neurodegeneration, without neurofibrillary tangles, in a mouse model of Niemann-Pick C disease.

Authors:  D C German; E M Quintero; C L Liang; B Ng; S Punia; C Xie; J M Dietschy
Journal:  J Comp Neurol       Date:  2001-05-07       Impact factor: 3.215

4.  In vivo assessment of neurodegeneration in Niemann-Pick type C mice by quantitative T2 mapping and diffusion tensor imaging.

Authors:  John W Totenhagen; Silvia Lope-Piedrafita; Ivan A Borbon; Eriko S Yoshimaru; Robert P Erickson; Theodore P Trouard
Journal:  J Magn Reson Imaging       Date:  2011-11-01       Impact factor: 4.813

5.  Size and shape of the corpus callosum in adult Niemann-Pick type C reflects state and trait illness variables.

Authors:  M Walterfang; M Fahey; L Abel; M Fietz; A Wood; E Bowman; D Reutens; D Velakoulis
Journal:  AJNR Am J Neuroradiol       Date:  2011-05-19       Impact factor: 3.825

6.  Whole-exome sequencing identifies mutated c12orf57 in recessive corpus callosum hypoplasia.

Authors:  Naiara Akizu; Nuri M Shembesh; Tawfeg Ben-Omran; Laila Bastaki; Asma Al-Tawari; Maha S Zaki; Roshan Koul; Emily Spencer; Rasim Ozgur Rosti; Eric Scott; Elizabeth Nickerson; Stacey Gabriel; Gilberto da Gente; Jiang Li; Matthew A Deardorff; Laura K Conlin; Margaret A Horton; Elaine H Zackai; Elliott H Sherr; Joseph G Gleeson
Journal:  Am J Hum Genet       Date:  2013-02-28       Impact factor: 11.025

Review 7.  The neuropsychiatry of inborn errors of metabolism.

Authors:  Mark Walterfang; Olivier Bonnot; Ramon Mocellin; Dennis Velakoulis
Journal:  J Inherit Metab Dis       Date:  2013-05-23       Impact factor: 4.982

8.  Proton magnetic resonance spectroscopic imaging in the clinical evaluation of patients with Niemann-Pick type C disease.

Authors:  G Tedeschi; S Bonavita; N W Barton; A Betolino; J A Frank; N J Patronas; J R Alger; R Schiffmann
Journal:  J Neurol Neurosurg Psychiatry       Date:  1998-07       Impact factor: 10.154

Review 9.  Recent neuroimaging, neurophysiological, and neuropathological advances for the understanding of NPC.

Authors:  Alberto Benussi; Maria Sofia Cotelli; Alessandro Padovani; Barbara Borroni
Journal:  F1000Res       Date:  2018-02-15

10.  Quantitative magnetic resonance imaging of brain atrophy in a mouse model of Niemann-Pick type C disease.

Authors:  John W Totenhagen; Adam Bernstein; Eriko S Yoshimaru; Robert P Erickson; Theodore P Trouard
Journal:  PLoS One       Date:  2017-05-24       Impact factor: 3.240
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