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1
Autosomal dominant optic atrophy with asymptomatic peripheral neuropathy.
J Neurol Neurosurg Psychiatry. 1996 Feb;60(2):195-6. doi: 10.1136/jnnp.60.2.195.
2
Autosomal recessive inheritance of hereditary motor and sensory neuropathy with optic atrophy.
J Neurol Neurosurg Psychiatry. 1997 Apr;62(4):385-7. doi: 10.1136/jnnp.62.4.385.
3
Hereditary motor and sensory neuropathy type VI with optic atrophy.
Am J Ophthalmol. 2003 Oct;136(4):670-7. doi: 10.1016/s0002-9394(03)00390-8.
4
Axonal neuropathy with optic atrophy is caused by mutations in mitofusin 2.
Ann Neurol. 2006 Feb;59(2):276-81. doi: 10.1002/ana.20797.
5
Hereditary motor and sensory neuropathy (HMSN) and optic atrophy (HMSN type VI, Vizioli).
Eur Arch Psychiatry Clin Neurosci. 1991;240(4-5):246-9. doi: 10.1007/BF02189534.
6
Optic atrophy, hearing loss, and peripheral neuropathy.
Am J Med Genet. 1989 May;33(1):61-5. doi: 10.1002/ajmg.1320330108.
8
[Dominant infantile optic nerve atrophy].
Cesk Oftalmol. 1989 Nov;45(6):440-4.
9
Compound Heterozygote Mutation of Causes Distal Motor Neuropathy and Optic Atrophy.
Chin Med J (Engl). 2017 Jan 20;130(2):242-244. doi: 10.4103/0366-6999.198019.
10
Hereditary motor and sensory neuropathy: HMSN type II (neuronal type) and X-linked HMSN.
Brain Pathol. 1993 Apr;3(2):147-55. doi: 10.1111/j.1750-3639.1993.tb00739.x.

引用本文的文献

1
Mitochondrial Membrane Dynamics and Inherited Optic Neuropathies.
In Vivo. 2017 Jul-Aug;31(4):511-525. doi: 10.21873/invivo.11090.
2
Novel C12orf65 mutations in patients with axonal neuropathy and optic atrophy.
J Neurol Neurosurg Psychiatry. 2014 May;85(5):486-92. doi: 10.1136/jnnp-2013-306387. Epub 2013 Nov 6.
3
Mitochondrial fusion proteins and human diseases.
Neurol Res Int. 2013;2013:293893. doi: 10.1155/2013/293893. Epub 2013 May 27.
4
The neuro-ophthalmology of mitochondrial disease.
Surv Ophthalmol. 2010 Jul-Aug;55(4):299-334. doi: 10.1016/j.survophthal.2009.10.002. Epub 2010 May 14.
5
Autosomal recessive inheritance of hereditary motor and sensory neuropathy with optic atrophy.
J Neurol Neurosurg Psychiatry. 1997 Apr;62(4):385-7. doi: 10.1136/jnnp.62.4.385.

本文引用的文献

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Charcot-Marie-Tooth disease with primary optic atrophy; report of a case.
Arch Ophthalmol. 1960 Dec;64:925-8. doi: 10.1001/archopht.1960.01840010927014.
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Visual prognosis in autosomal dominant optic atrophy (Kjer type).
Am J Ophthalmol. 1993 Mar 15;115(3):360-7. doi: 10.1016/s0002-9394(14)73589-5.
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Dominant optic atrophy (OPA1) mapped to chromosome 3q region. I. Linkage analysis.
Hum Mol Genet. 1994 Jun;3(6):977-80. doi: 10.1093/hmg/3.6.977.
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Familial opticoacoustic nerve degeneration and polyneuropathy.
Neurology. 1967 Sep;17(9):827-32. doi: 10.1212/wnl.17.9.827.
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Diagnostic criteria in cominantly inherited juvenile optic atrophy. A report of three new families.
Am J Optom Arch Am Acad Optom. 1972 Mar;49(3):183-200. doi: 10.1097/00006324-197203000-00001.
8
Optic atrophy, hearing loss, and peripheral neuropathy.
Am J Med Genet. 1989 May;33(1):61-5. doi: 10.1002/ajmg.1320330108.
9
Hereditary motor and sensory neuropathy (HMSN) and optic atrophy (HMSN type VI, Vizioli).
Eur Arch Psychiatry Clin Neurosci. 1991;240(4-5):246-9. doi: 10.1007/BF02189534.
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Color vision in dominant optic atrophy.
J Clin Neuroophthalmol. 1992 Jun;12(2):98-103.

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