Found: 17
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Two novel missense mutations in FGD4/FRABIN cause Charcot-Marie-Tooth type 4H (CMT4H).
- Published in:
- Journal of the Peripheral Nervous System, 2012, v. 17, n. 2, p. 141, doi. 10.1111/j.1529-8027.2012.00405.x
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- Article
A case of multifocal motor neuropathy with conduction block associated with gastric and lung adenocarcinoma.
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- Journal of the Peripheral Nervous System, 2012, v. 17, n. 2, p. 226, doi. 10.1111/j.1529-8027.2012.00401.x
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- Article
Retrospective analysis of Slovenian patients with Guillain-Barré syndrome.
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- 2012
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- Publication type:
- Journal Article
Amyloid-like IgM deposition neuropathy: a distinct clinico-pathologic and proteomic profiled disorder.
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- Journal of the Peripheral Nervous System, 2012, v. 17, n. 2, p. 182, doi. 10.1111/j.1529-8027.2012.00406.x
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- Article
Phenotypic presentation of the Ser63Del MPZ mutation.
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- Journal of the Peripheral Nervous System, 2012, v. 17, n. 2, p. 197, doi. 10.1111/j.1529-8027.2012.00398.x
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- Article
Two novel missense mutations in FGD4/FRABIN cause Charcot-Marie-Tooth type 4H (CMT4H)
- Published in:
- 2012
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- Publication type:
- Journal Article
Severe Dejerine-Sottas disease with respiratory failure and dysmorphic features in association with a PMP22 point mutation and a 3q23 microdeletion.
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- Journal of the Peripheral Nervous System, 2012, v. 17, n. 2, p. 223, doi. 10.1111/j.1529-8027.2012.00402.x
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- Article
BAG3 mutations: another cause of giant axonal neuropathy.
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- Journal of the Peripheral Nervous System, 2012, v. 17, n. 2, p. 210, doi. 10.1111/j.1529-8027.2012.00409.x
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- Publication type:
- Article
Retrospective analysis of Slovenian patients with Guillain-Barré syndrome.
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- Journal of the Peripheral Nervous System, 2012, v. 17, n. 2, p. 217, doi. 10.1111/j.1529-8027.2012.00397.x
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- Article
A novel p.Glu175X premature stop mutation in the C-terminal end of HSP27 is a cause of CMT2.
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- Journal of the Peripheral Nervous System, 2012, v. 17, n. 2, p. 201, doi. 10.1111/j.1529-8027.2012.00400.x
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- Article
Suppression of neurokinin-1 receptor in trigeminal ganglia attenuates central sensitization following inflammation.
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- Journal of the Peripheral Nervous System, 2012, v. 17, n. 2, p. 169, doi. 10.1111/j.1529-8027.2012.00404.x
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- Article
Plasma homocysteine levels are independently associated with the severity of peripheral polyneuropathy in type 2 diabetic subjects.
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- Journal of the Peripheral Nervous System, 2012, v. 17, n. 2, p. 191, doi. 10.1111/j.1529-8027.2012.00408.x
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- Article
Mitochondrial loss indicates early axonal damage in small fiber neuropathies.
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- Journal of the Peripheral Nervous System, 2012, v. 17, n. 2, p. 147, doi. 10.1111/j.1529-8027.2012.00396.x
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- Article
A novel EGR2 mutation within a family with a mild demyelinating form of Charcot-Marie-Tooth disease.
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- Journal of the Peripheral Nervous System, 2012, v. 17, n. 2, p. 206, doi. 10.1111/j.1529-8027.2012.00403.x
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- Article
Abstracts of the 2012 PNS/Inflammatory Neuropathy Consortium Meeting June 24-27, 2012 Rotterdam, The Netherlands.
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- Journal of the Peripheral Nervous System, 2012, v. 17, n. 2, p. 229, doi. 10.1111/j.1529-8027.2012.00410.x
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- Article
Clinical and serological features of acute sensory ataxic neuropathy with antiganglioside antibodies.
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- Journal of the Peripheral Nervous System, 2012, v. 17, n. 2, p. 158, doi. 10.1111/j.1529-8027.2012.00407.x
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- Article
BIOHYBRID - Biohybrid templates for peripheral nerve regeneration.
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- Journal of the Peripheral Nervous System, 2012, v. 17, n. 2, p. 220, doi. 10.1111/j.1529-8027.2012.00399.x
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- Article