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921.
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Novel C12orf65 mutations in patients with axonal neuropathy and optic atrophy. [electronic resource] by
- Tucci, Arianna
- Liu, Yo-Tsen
- Preza, Elisabeth
- Pitceathly, Robert D S
- Chalasani, Annapurna
- Plagnol, Vincent
- Land, John M
- Trabzuni, Daniah
- Ryten, Mina
- Jaunmuktane, Zane
- Reilly, Mary M
- Brandner, Sebastian
- Hargreaves, Iain
- Hardy, John
- Singleton, Andrew B
- Abramov, Andrey Y
- Houlden, Henry
Producer: 20140605
In:
Journal of neurology, neurosurgery, and psychiatry vol. 85
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922.
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923.
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The phenotypic manifestations of chromosome 17p11.2 duplication. [electronic resource] by
- Thomas, P K
- Marques, W
- Davis, M B
- Sweeney, M G
- King, R H
- Bradley, J L
- Muddle, J R
- Tyson, J
- Malcolm, S
- Harding, A E
Producer: 19970516
In:
Brain : a journal of neurology vol. 120 ( Pt 3)
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924.
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Novel mutation in the myelin protein zero gene in a family with intermediate hereditary motor and sensory neuropathy. [electronic resource] by
- Mastaglia, F L
- Nowak, K J
- Stell, R
- Phillips, B A
- Edmondston, J E
- Dorosz, S M
- Wilton, S D
- Hallmayer, J
- Kakulas, B A
- Laing, N G
Producer: 19990902
In:
Journal of neurology, neurosurgery, and psychiatry vol. 67
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925.
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926.
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927.
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928.
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HMSN/ACC truncation mutations disrupt brain-type creatine kinase-dependant activation of K+/Cl- co-transporter 3. [electronic resource] by
- Salin-Cantegrel, Adèle
- Shekarabi, Masoud
- Holbert, Sébastien
- Dion, Patrick
- Rochefort, Daniel
- Laganière, Janet
- Dacal, Sandra
- Hince, Pascale
- Karemera, Liliane
- Gaspar, Claudia
- Lapointe, Jean-Yves
- Rouleau, Guy A
Producer: 20080929
In:
Human molecular genetics vol. 17
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929.
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930.
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931.
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932.
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933.
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934.
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935.
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936.
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Recessive C10orf2 mutations in a family with infantile-onset spinocerebellar ataxia, sensorimotor polyneuropathy, and myopathy. [electronic resource] by
- Park, Mi-Hyun
- Woo, Hae-Mi
- Hong, Young Bin
- Park, Ji Hoon
- Yoon, Bo Ram
- Park, Jin-Mo
- Yoo, Jeong Hyun
- Koo, Heasoo
- Chae, Jong-Hee
- Chung, Ki Wha
- Choi, Byung-Ok
- Koo, Soo Kyung
Producer: 20150226
In:
Neurogenetics vol. 15
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937.
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938.
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939.
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Loss of neuronal potassium/chloride cotransporter 3 (KCC3) is responsible for the degenerative phenotype in a conditional mouse model of hereditary motor and sensory neuropathy associated with agenesis of the corpus callosum. [electronic resource] by
- Shekarabi, Masoud
- Moldrich, Randal X
- Rasheed, Sarah
- Salin-Cantegrel, Adéle
- Laganière, Janet
- Rochefort, Daniel
- Hince, Pascale
- Huot, Karine
- Gaudet, Rébecca
- Kurniawan, Nyoman
- Sotocinal, Susana G
- Ritchie, Jennifer
- Dion, Patrick A
- Mogil, Jeffrey S
- Richards, Linda J
- Rouleau, Guy A
Producer: 20120501
In:
The Journal of neuroscience : the official journal of the Society for Neuroscience vol. 32
Availability: No items available.
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940.
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