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List of works by Jake N Miller

A novel c.1135_1138delCTGT mutation in CLN3 leads to juvenile neuronal ceroid lipofuscinosis.

scientific article published on 22 July 2013

A novel c.776_777insA mutation in CLN1 leads to infantile neuronal ceroid lipofuscinosis.

scientific article published on 14 July 2013

Bipolar Disorder and Suicide: a Review

scientific article published on 18 January 2020

Brain Structural Features of Myotonic Dystrophy Type 1 and their Relationship with CTG Repeats

scientific article published on 01 January 2019

Nicotine Dependence: Diagnosis, Chemistry and Pharmacological Treatments

scientific article published on 01 February 2019

Nonsense-mediated decay in genetic disease: friend or foe?

scientific article

The role of nonsense-mediated decay in neuronal ceroid lipofuscinosis ⬇️

scientific article published on March 28, 2013

Tissue-specific variation in nonsense mutant transcript level and drug-induced read-through efficiency in the Cln1(R151X) mouse model of INCL

scientific article published on 9 December 2015

Variant repeats within the DMPK CTG expansion protect function in myotonic dystrophy type 1

scientific article published on 12 August 2020

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