Trichothiodystrophy with Dysmyelination and Central Osteosclerosis

J.H. Harreld; E.C. Smith; N.S. Prose; P.K. Puri; D.P. Barboriak

doi:10.3174/ajnr.A1665

Case ReportPediatrics

Trichothiodystrophy with Dysmyelination and Central Osteosclerosis

J.H. Harreld, E.C. Smith, N.S. Prose, P.K. Puri and D.P. Barboriak

American Journal of Neuroradiology January 2010, 31 (1) 129-130; DOI: https://doi.org/10.3174/ajnr.A1665

J.H. Harreld

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E.C. Smith

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N.S. Prose

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P.K. Puri

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D.P. Barboriak

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vol. 31 no. 1 129-130

DOI

https://doi.org/10.3174/ajnr.A1665

PubMed

20075106

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American Journal of Neuroradiology

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0195-6108

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1936-959X

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J.H. Harreld, E.C. Smith, N.S. Prose, P.K. Puri, D.P. Barboriak

Trichothiodystrophy with Dysmyelination and Central Osteosclerosis

American Journal of Neuroradiology Jan 2010, 31 (1) 129-130; DOI: 10.3174/ajnr.A1665

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Trichothiodystrophy with Dysmyelination and Central Osteosclerosis

J.H. Harreld, E.C. Smith, N.S. Prose, P.K. Puri, D.P. Barboriak

American Journal of Neuroradiology Jan 2010, 31 (1) 129-130; DOI: 10.3174/ajnr.A1665

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Common genetic variation influencing human white matter microstructure

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DNA damage in the oligodendrocyte lineage and its role in brain aging

Kai-Hei Tse, Karl Herrup

Mechanisms of Ageing and Development 2017 161
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Alfried Kohlschütter, Florian Eichler

Expert Review of Neurotherapeutics 2011 11 10
Genome instability syndromes caused by impaired DNA repair and aberrant DNA damage responses

Takeshi Terabayashi, Katsuhiro Hanada

Cell Biology and Toxicology 2018 34 5
Ocular Manifestations of Trichothiodystrophy

Brian P. Brooks, Amy H. Thompson, Janine A. Clayton, Chi-Chao Chan, Deborah Tamura, Wadih M. Zein, Delphine Blain, Casey Hadsall, John Rowan, Kristen E. Bowles, Sikandar G. Khan, Takahiro Ueda, Jennifer Boyle, Kyu-Seon Oh, John J. DiGiovanna, Kenneth H. Kraemer

Ophthalmology 2011 118 12
Hypomyelinating disorders: An MRI approach

A. James Barkovich, Sean Deon

Neurobiology of Disease 2016 87
Imaging Manifestations of the Leukodystrophies, Inherited Disorders of White Matter

Edward Yang, Sanjay P. Prabhu

Radiologic Clinics of North America 2014 52 2
Reprint of “Hypomyelinating disorders: An MRI approach

A. James Barkovich, Sean Deon

Neurobiology of Disease 2016 92
Debilitating hip degeneration in trichothiodystrophy: Association with ERCC2/XPD mutations, osteosclerosis, osteopenia, coxa valga, contractures, and osteonecrosis

John J. DiGiovanna, Grant Randall, Alexandra Edelman, Rina Allawh, Michael Xiong, Deborah Tamura, Sikandar G. Khan, Elizabeth R. H. Rizza, James C. Reynolds, Scott M. Paul, Suvimol C. Hill, Kenneth H. Kraemer

American Journal of Medical Genetics Part A 2022 188 12
DNA Repair Dysfunction and Neurodegeneration: Lessons From Rare Pediatric Disorders

Syed H. Shabbir

Journal of Child Neurology 2016 31 3
Dental Abnormalities in Congenital Ichthyoses: Case Report and Review of the Literature

Sarah Maarouf, Marie Clark, Anthony Chen, Anita Haggstrom

Pediatric Dermatology 2025 42 2

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