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

doi:10.3174/ajnr.A0792

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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vol. 29 no. 2 301-305

DOI

https://doi.org/10.3174/ajnr.A0792

PubMed

17974614

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American Journal of Neuroradiology

Print ISSN

0195-6108

Online ISSN

1936-959X

History

Received March 15, 2007
Accepted after revision July 10, 2007
Published online February 13, 2008.

Author Information

A. Rossia,
R. Biancherib,
F. Zarab,
C. Brunob,
G. Uzielc,
M.S. van der Knaapd,
C. Minettib and
P. Tortori-Donatia

^aDepartment of Pediatric Neuroradiology, G. Gaslini Children’s Research Hospital, Genoa, Italy
^bMuscular and Neurodegenerative Diseases Unit, G. Gaslini Children’s Research Hospital, Genoa, Italy
^cDepartment of Child Neurology, C. Besta National Neurological Institute, Milan, Italy
^dDepartment of Child Neurology, VU University Medical Center, Amsterdam, the Netherlands

Please address correspondence to Andrea Rossi, MD, Department of Pediatric Neuroradiology, G. Gaslini Children’s Research Hospital, Largo G. Gaslini 5, 16147 Genoa, Italy; e-mail andrearossi{at}ospedale-gaslini.ge.it

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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

Marjan E. Steenweg, Adeline Vanderver, Susan Blaser, Alberto Bizzi, Tom J. de Koning, Grazia M. S. Mancini, Wessel N. van Wieringen, Frederik Barkhof, Nicole I. Wolf, Marjo S. van der Knaap

Brain 2010 133 10
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

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Alfried Kohlschütter, Florian Eichler

Expert Review of Neurotherapeutics 2011 11 10
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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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