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Publications by Jorida Çoku
Slowly Progressive Encephalopathy With Hearing Loss Due to a Mutation in the mtDNA tRNALeu(CUN) Gene
Journal of the Neurological Sciences
Neurology
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Biallelic Mutations inDNM1Lare Associated With a Slowly Progressive Infantile Encephalopathy
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Progressive Encephalopathy With Leukodystrophy Due to DECR Deficiency
Idiopathic Bilateral Sensorineural Hearing Loss (IBSH): Clinical Study of Cases With Rapidly Progressive and Slowly Progressive Deafness.
AUDIOLOGY JAPAN
Progressive Ataxia Due to a Missense Mutation in a Calcium-Channel Gene
American Journal of Human Genetics
Genetics
Tissue Dependent Co-Segregation of the Novel Pathogenic G12276A Mitochondrial tRNALeu(CUN) Mutation With the A185G D-Loop Polymorphism
Journal of Medical Genetics
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Mutation of the ATP-gated P2X2 Receptor Leads to Progressive Hearing Loss and Increased Susceptibility to Noise
Proceedings of the National Academy of Sciences of the United States of America
Multidisciplinary
Missense Mutation in the USH2A Gene: Association With Recessive Retinitis Pigmentosa Without Hearing Loss
American Journal of Human Genetics
Genetics
Novel Homozygous Mutation in the MYO15A Gene in Autosomal Recessive Hearing Loss
Zahedan Journal of Research in Medical Sciences
Young Adult-Onset, Very Slowly Progressive Cognitive Decline With Spastic Paraparesis in Alzheimer’s Disease With Cotton Wool Plaques Due to a Novel Presenilin1 G417S Mutation
Acta neuropathologica communications
Forensic Medicine
Molecular Neuroscience
Pathology
Neurology
Cellular
