Found: 26
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Mutation analysis of 4 candidate genes for hereditary neuralgic amyotrophy (HNA).
- Published in:
- Human Genetics, 2001, v. 108, n. 5, p. 390, doi. 10.1007/s004390100510
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- Article
Corrigendum: Mutations in the mitochondrial GTPase mitofusin 2 cause Charcot-Marie-Tooth neuropathy type 2A.
- Published in:
- 2004
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- Publication type:
- Correction notice
Charcot-Marie-Tooth Disease: A Clinico-genetic Confrontation.
- Published in:
- Annals of Human Genetics, 2008, v. 72, n. 3, p. 416, doi. 10.1111/j.1469-1809.2007.00412.x
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- Article
Exclusion of 5 functional candidate genes for distal hereditary motor neuropathy type II (distal HMN II) linked to 12q24.3.
- Published in:
- Annals of Human Genetics, 2001, v. 65, n. 6, p. 517, doi. 10.1017/S0003480001008910
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- Publication type:
- Article
Isolation from rat urine and human liver microsomes and identification by electrospray and nanospray tandem mass spectrometry of new malagashanine metabolites.
- Published in:
- Journal of Mass Spectrometry, 2000, v. 35, n. 9, p. 1112, doi. 10.1002/1096-9888(200009)35:9<1112::AID-JMS39>3.0.CO;2-K
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- Publication type:
- Article
Whole-body MR screening of muscles in the evaluation of neuromuscular diseases.
- Published in:
- 2004
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- Publication type:
- journal article
Whole-body MR screening of muscles in the evaluation of neuromuscular diseases.
- Published in:
- European Radiology, 2004, v. 14, n. 8, p. 1489
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- Publication type:
- Article
Self-Injurious Behaviour in nursing home residents with dementia.
- Published in:
- International Journal of Geriatric Psychiatry, 2005, v. 20, n. 7, p. 651, doi. 10.1002/gps.1337
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- Publication type:
- Article
Opinion of Belgian neurologists on antiepileptic drug treatment in 2006: Belgian study on epilepsy treatment (BESET-2).
- Published in:
- Acta Neurologica Scandinavica, 2009, v. 120, n. 6, p. 402, doi. 10.1111/j.1600-0404.2009.01182.x
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- Article
Hereditary neuralgic amyotrophy (HNA) is genetically heterogeneous.
- Published in:
- 2002
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- Publication type:
- Abstract
A CLONE CONTIG OF 12Q24.3 ENCOMPASSING THE DISTAL HEREDITARY MOTOR NEUROPATHY TYPE II GENE.
- Published in:
- Journal of the Peripheral Nervous System, 2000, v. 5, n. 4, p. 242, doi. 10.1111/j.1529-8027.2000.22-25.x
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- Publication type:
- Article
Genes for hereditary sensory and autonomic neuropathies: a genotype-phenotype correlation.
- Published in:
- 2009
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- Publication type:
- journal article
Clinicopathological and genetic study of early-onset demyelinating neuropathy.
- Published in:
- 2004
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- Publication type:
- Journal Article
The phenotype of motor neuropathies associated with BSCL2 mutations is broader than Silver syndrome and distal HMN type V.
- Published in:
- 2004
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- Publication type:
- Journal Article
Mutations in the neurofilament light chain gene (NEFL) cause early onset severe Charcot–Marie–Tooth disease.
- Published in:
- Brain: A Journal of Neurology, 2003, v. 126, n. 3, p. 590, doi. 10.1093/brain/awg059
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- Publication type:
- Article
Autosomal dominant juvenile amyotrophic lateral sclerosis and distal hereditary motor neuronopathy with pyramidal tract signs: synonyms for the same disorder?
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- Brain: A Journal of Neurology, 2002, v. 125, n. 6, p. 1320, doi. 10.1093/brain/awf127
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- Publication type:
- Article
The Thr124Met mutation in the peripheral myelin protein zero (MPZ) gene is associated with a clinically distinct Charcot-Marie-Tooth phenotype.
- Published in:
- Brain: A Journal of Neurology, 1999, v. 122, n. 2, p. 281, doi. 10.1093/brain/122.2.281
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- Publication type:
- Article
PMP22 Thr118Met is not a clinically relevant CMT1 marker.
- Published in:
- Journal of Neurology, 2000, v. 247, n. 9, p. 696, doi. 10.1007/s004150070113
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- Publication type:
- Article
Axonal neuropathy with optic atrophy is caused by mutations in mitofusin 2.
- Published in:
- 2006
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- Publication type:
- Journal Article
Further evidence that neurofilament light chain gene mutations can cause Charcot-Marie-Tooth disease type 2E.
- Published in:
- 2001
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- Publication type:
- journal article
Author's reply: Familial phenotype in migraine and epilepsy.
- Published in:
- 2008
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- Publication type:
- Letter
EFNS guidelines for the molecular diagnosis of neurogenetic disorders: motoneuron, peripheral nerve and muscle disorders.
- Published in:
- European Journal of Neurology, 2011, v. 18, n. 2, p. 207, doi. 10.1111/j.1468-1331.2010.03069.x
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- Publication type:
- Article
EFNS guidelines on the molecular diagnosis of channelopathies, epilepsies, migraine, stroke, and dementias.
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- European Journal of Neurology, 2010, v. 17, n. 5, p. 641, doi. 10.1111/j.1468-1331.2010.02985.x
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- Publication type:
- Article
EFNS guidelines on the molecular diagnosis of ataxias and spastic paraplegias.
- Published in:
- European Journal of Neurology, 2010, v. 17, n. 2, p. 179, doi. 10.1111/j.1468-1331.2009.02873.x
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- Publication type:
- Article
EFNS guidelines on the molecular diagnosis of mitochondrial disorders.
- Published in:
- European Journal of Neurology, 2009, v. 16, n. 12, p. 1255, doi. 10.1111/j.1468-1331.2009.02811.x
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- Publication type:
- Article
EFNS guidelines on the molecular diagnosis of neurogenetic disorders: general issues, Huntington’s disease, Parkinson’s disease and dystonias.
- Published in:
- European Journal of Neurology, 2009, v. 16, n. 7, p. 777, doi. 10.1111/j.1468-1331.2009.02646.x
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- Publication type:
- Article