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Research ArticlePEDIATRICS

Hypomyelination and Congenital Cataract: Neuroimaging Features of a Novel Inherited White Matter Disorder

A. Rossi, R. Biancheri, F. Zara, C. Bruno, G. Uziel, M.S. van der Knaap, C. Minetti and P. Tortori-Donati
American Journal of Neuroradiology February 2008, 29 (2) 301-305; DOI: https://doi.org/10.3174/ajnr.A0792
A. Rossi
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R. Biancheri
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F. Zara
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C. Bruno
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G. Uziel
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M.S. van der Knaap
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C. Minetti
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P. Tortori-Donati
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American Journal of Neuroradiology: 29 (2)
American Journal of Neuroradiology
Vol. 29, Issue 2
February 2008
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Cite this article
A. Rossi, R. Biancheri, F. Zara, C. Bruno, G. Uziel, M.S. van der Knaap, C. Minetti, P. Tortori-Donati
Hypomyelination and Congenital Cataract: Neuroimaging Features of a Novel Inherited White Matter Disorder
American Journal of Neuroradiology Feb 2008, 29 (2) 301-305; DOI: 10.3174/ajnr.A0792

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Hypomyelination and Congenital Cataract: Neuroimaging Features of a Novel Inherited White Matter Disorder
A. Rossi, R. Biancheri, F. Zara, C. Bruno, G. Uziel, M.S. van der Knaap, C. Minetti, P. Tortori-Donati
American Journal of Neuroradiology Feb 2008, 29 (2) 301-305; DOI: 10.3174/ajnr.A0792
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This article has been cited by the following articles in journals that are participating in Crossref Cited-by Linking.

  • Magnetic resonance imaging pattern recognition in hypomyelinating disorders
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  • Mitochondrial Hsp60 Chaperonopathy Causes an Autosomal-Recessive Neurodegenerative Disorder Linked to Brain Hypomyelination and Leukodystrophy
    Daniella Magen, Costa Georgopoulos, Peter Bross, Debbie Ang, Yardena Segev, Dorit Goldsher, Alexandra Nemirovski, Eli Shahar, Sarit Ravid, Anthony Luder, Bayan Heno, Ruth Gershoni-Baruch, Karl Skorecki, Hanna Mandel
    The American Journal of Human Genetics 2008 83 1
  • Childhood leukodystrophies: a clinical perspective
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    Expert Review of Neurotherapeutics 2011 11 10
  • Late-onset spastic ataxia phenotype in a patient with a homozygous DDHD2 mutation
    Hiroshi Doi, Masao Ushiyama, Takashi Baba, Katsuko Tani, Masaaki Shiina, Kazuhiro Ogata, Satoko Miyatake, Yoko Fukuda-Yuzawa, Shoji Tsuji, Mitsuko Nakashima, Yoshinori Tsurusaki, Noriko Miyake, Hirotomo Saitsu, Shu-ichi Ikeda, Fumiaki Tanaka, Naomichi Matsumoto, Kunihiro Yoshida
    Scientific Reports 2014 4 1
  • Magnetic Resonance Spectroscopy in Metabolic Disorders
    Andrea Rossi, Roberta Biancheri
    Neuroimaging Clinics of North America 2013 23 3
  • Hypomyelination and Congenital Cataract
    Roberta Biancheri, Federico Zara, Andrea Rossi, Mikael Mathot, Marie Cecile Nassogne, Cengiz Yalcinkaya, Ozdem Erturk, Behyan Tuysuz, Maja Di Rocco, Elisabetta Gazzerro, Marianna Bugiani, Resie van Spaendonk, Erik A. Sistermans, Carlo Minetti, Marjo S. van der Knaap, Nicole I. Wolf
    Archives of Neurology 2011 68 9
  • Neurometabolic diseases of childhood
    Zoltan Patay, Susan I. Blaser, Andrea Poretti, Thierry A. G. M. Huisman
    Pediatric Radiology 2015 45 S3
  • Hyccin, the Molecule Mutated in the Leukodystrophy Hypomyelination and Congenital Cataract (HCC), Is a Neuronal Protein
    Elisabetta Gazzerro, Simona Baldassari, Caterina Giacomini, Veronica Musante, Floriana Fruscione, Veronica La Padula, Roberta Biancheri, Sonia Scarfì, Valeria Prada, Federica Sotgia, Ian D. Duncan, Federico Zara, Hauke B. Werner, Michael P. Lisanti, Lucilla Nobbio, Anna Corradi, Carlo Minetti, Giovanna R. Mallucci
    PLoS ONE 2012 7 3
  • The chemistry and biology of phosphatidylinositol 4-phosphate at the plasma membrane
    Alex G. Batrouni, Jeremy M. Baskin
    Bioorganic & Medicinal Chemistry 2021 40
  • Novel FAM126A mutations in hypomyelination and congenital cataract disease
    M. Traverso, S. Assereto, E. Gazzerro, S. Savasta, E.M. Abdalla, A. Rossi, S. Baldassari, F. Fruscione, G. Ruffinazzi, M.R. Fassad, A. El Beheiry, C. Minetti, F. Zara, R. Biancheri
    Biochemical and Biophysical Research Communications 2013 439 3

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