Research Papers

Research Papers are ordered by date, newest to oldest.  Click the paper name or read more link to see details (excerpt) and to access the file that is available for download. 
2019 Nau
COL4A1 mutations in two infants with congenital cataracts and porencephaly: an ophthalmologic perspective
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2019 Labelle-Dumais
COL4A1 Mutations Cause Neuromuscular Disease with Tissue-Specific Mechanistic Heterogeneity
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2019 Watanabe
Malignant Hyperthermia and Cerebral Venous Sinus Thrombosis After Ventriculoperitoneal Shunt in Infant with Schizencephaly and COL4A1 Mutation
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2019 Vitale
Cortical malformations and COL4A1 mutation: Three new cases
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2018 Zagaglia
Neurologic phenotypes associated with COL4A1/2 mutations
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2019 Jones
4-Sodium phenyl butyric acid has both efficacy and counter-indicative effects in the treatment of Col4a1 disease
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2018 Cavallin
Further refinement of COL4A1 and COL4A2 related cortical malformations
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2018 Hayashi
Use of sodium 4-phenylbutyrate to define therapeutic parameters for reducing intracerebral hemorrhage and myopathy in Col4a1 mutant mice
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2018 Ratelade
Severity of arterial defects in the retina correlates with the burden of intracerebral haemorrhage in COL4A1-related stroke
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2018 Cornec-Le Gall
The Value of Genetic Testing in Polycystic Kidney Diseases Illustrated by a Family With PKD2 and COL4A1 Mutations
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