Novel OPA1 mutation featuring spastic paraparesis and intestinal dysmotility.

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Novel OPA1 mutation featuring spastic paraparesis and intestinal dysmotility.

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2014 nî lūn-bûn

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2014年の論文

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2014年論文

@yue

2014年論文

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2014年論文

@zh-hk

2014年論文

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2014年論文

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2014年论文

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2014年论文

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2014年论文

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Novel OPA1 mutation featuring spastic paraparesis and intestinal dysmotility.

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Novel OPA1 mutation featuring spastic paraparesis and intestinal dysmotility.

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Novel OPA1 mutation featuring spastic paraparesis and intestinal dysmotility.

@en

Novel OPA1 mutation featuring spastic paraparesis and intestinal dysmotility.

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Novel OPA1 mutation featuring spastic paraparesis and intestinal dysmotility.

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Novel OPA1 mutation featuring spastic paraparesis and intestinal dysmotility.

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P1476

Novel OPA1 mutation featuring spastic paraparesis and intestinal dysmotility.

@en

P2093

Lee-Jun Wong

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Mohamed Kazamel

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P2860

OPA1, encoding a dynamin-related GTPase, is mutated in autosomal dominant optic atrophy linked to chromosome 3q28

Multi-system neurological disease is common in patients with OPA1 mutations

Treatment strategies for inherited optic neuropathies: past, present and future

Inherited mitochondrial optic neuropathies.

Mitochondrial neurogastrointestinal encephalomyopathy (MNGIE)-like phenotype: an expanded clinical spectrum of POLG1 mutations.

Molecular screening of 980 cases of suspected hereditary optic neuropathy with a report on 77 novel OPA1 mutations.

Mitochondrial disorder with OPA1 mutation lacking optic atrophy.

197th ENMC international workshop: Neuromuscular disorders of mitochondrial fusion and fission - OPA1 and MFN2 molecular mechanisms and therapeutic strategies: 26-28 April 2013, Naarden, The Netherlands

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443-445

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P31

scholarly article

P356

10.1016/J.YMGMR.2014.09.006

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P478

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P50

Margherita Milone

P577

2014-10-08T00:00:00Z

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P5875

266677699

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P698

27896119

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P932

5121360

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