検索結果 - Yu‐Wai‐Man, Patrick

Traumatic optic neuropathy—Clinical features and management issues 著者: Yu-Wai-Man, Patrick

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Genetic manipulation for inherited neurodegenerative diseases: myth or reality? 著者: Yu-Wai-Man, Patrick

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Delayed Optochiasmal Arachnoiditis following Intervention for a Subarachnoid Haemorrhage 著者: Yu-Wai-Man, Patrick, Neoh, Christopher

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Leber hereditary optic neuropathy: bridging the translational gap 著者: Jurkute, Neringa, Yu-Wai-Man, Patrick

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From Bench to Bedside—Delivering Gene Therapy for Leber Hereditary Optic Neuropathy 著者: Chen, Benson S., Yu-Wai-Man, Patrick

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Reply: Spastic paraplegia in ‘dominant optic atrophy plus’ phenotype due to OPA1 mutation 著者: Yu-Wai-Man, Patrick, Chinnery, Patrick F.

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Reply: Sensorineural hearing loss in OPA1-linked disorders 著者: Yu-Wai-Man, Patrick, Chinnery, Patrick F.

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Reply: Early-onset Behr syndrome due to compound heterozygous mutations in OPA1 著者: Yu-Wai-Man, Patrick, Chinnery, Patrick F.

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Reply: ‘Behr syndrome’ with OPA1 compound heterozygote mutations 著者: Yu-Wai-Man, Patrick, Chinnery, Patrick F.

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Leber Hereditary Optic Neuropathy – Therapeutic Challenges and Early Promise 著者: Yu-Wai-Man, Patrick, Chinnery, Patrick F.

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Inherited eye-related disorders due to mitochondrial dysfunction 著者: Yu-Wai-Man, Patrick, Newman, Nancy J.

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Dominant Optic Atrophy – Novel OPA1 Mutations and Revised Prevalence Estimates 著者: Yu-Wai-Man, Patrick, Chinnery, Patrick F.

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Surgery for traumatic optic neuropathy 著者: Yu‐Wai‐Man, Patrick, Griffiths, Philip G

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Steroids for traumatic optic neuropathy 著者: Yu‐Wai‐Man, Patrick, Griffiths, Philip G

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Disorders of the Optic Nerve in Mitochondrial Cytopathies: New Ideas on Pathogenesis and Therapeutic Targets 著者: Sitarz, Kamil S., Chinnery, Patrick F., Yu-Wai-Man, Patrick

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Mitochondrial optic neuropathies – Disease mechanisms and therapeutic strategies 著者: Yu-Wai-Man, Patrick, Griffiths, Philip G., Chinnery, Patrick F.

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The clinical spectrum of mitochondrial genetic disorders 著者: Kirkman, Matthew A, Yu-Wai-Man, Patrick, Chinnery, Patrick F

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Characterisation of a novel OPA1 splice variant resulting in cryptic splice site activation and mitochondrial dysfunction 著者: Harvey, Joshua Paul, Yu-Wai-Man, Patrick, Cheetham, Michael Edward

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Genetic variation in the methylenetetrahydrofolate reductase gene, MTHFR, does not alter the risk of visual failure in Leber’s hereditary optic neuropathy 著者: Hudson, Gavin, Yu-Wai-Man, Patrick, Zeviani, Massimo, Chinnery, Patrick F.

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Reply: Parsing the differences in affected with LHON: genetic versus environmental triggers of disease conversion 著者: Yu-Wai-Man, Patrick, Hudson, Gavin, Klopstock, Thomas, Chinnery, Patrick F.

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