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

Publish Date: 05/22/2019

COL4A1 mutations in two infants with congenital cataracts and porencephaly: an ophthalmologic perspective

2019 Labelle-Dumais

Publish Date: 05/02/2019

COL4A1 Mutations Cause Neuromuscular Disease with Tissue-Specific Mechanistic Heterogeneity

2019 Watanabe

Publish Date: 04/25/2019

Malignant Hyperthermia and Cerebral Venous Sinus Thrombosis After Ventriculoperitoneal Shunt in Infant with Schizencephaly and COL4A1 Mutation

2019 Vitale

Publish Date: 02/22/2019

Cortical malformations and COL4A1 mutation: Three new cases

2018 Zagaglia

Publish Date: 11/27/2018

Neurologic phenotypes associated with COL4A1/2 mutations

2019 Jones

Publish Date: 10/22/2018

4-Sodium phenyl butyric acid has both efficacy and counter-indicative effects in the treatment of Col4a1 disease

2018 Cavallin

Publish Date: 10/11/2018

Further refinement of COL4A1 and COL4A2 related cortical malformations

2018 Hayashi

Publish Date: 05/31/2018

Use of sodium 4-phenylbutyrate to define therapeutic parameters for reducing intracerebral hemorrhage and myopathy in Col4a1 mutant mice

2018 Ratelade

Publish Date: 02/14/2018

Severity of arterial defects in the retina correlates with the burden of intracerebral haemorrhage in COL4A1-related stroke

2018 Cornec-Le Gall

Publish Date: 02/03/2018

The Value of Genetic Testing in Polycystic Kidney Diseases Illustrated by a Family With PKD2 and COL4A1 Mutations

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