Found: 40
Select item for more details and to access through your institution.
Longitudinal Changes of Tongue Thickness and Tongue Pressure in Neuromuscular Disorders.
- Published in:
- 2021
- By:
- Publication type:
- journal article
Transactivation response DNA‐binding protein of 43 kDa proteinopathy and lysosomal abnormalities in spastic paraplegia type 11.
- Published in:
- Neuropathology, 2021, v. 41, n. 4, p. 253, doi. 10.1111/neup.12733
- By:
- Publication type:
- Article
Symmetrical glial hyperplasia in the brainstem of fibrodysplasia ossificans progressiva.
- Published in:
- Neuropathology, 2021, v. 41, n. 2, p. 146, doi. 10.1111/neup.12715
- By:
- Publication type:
- Article
Independent strong association of HLA-A* 02:06 and HLA-B*44:03 with cold medicine-related Stevens-Johnson syndrome with severe mucosal involvement.
- Published in:
- Scientific Reports, 2014, p. 1, doi. 10.1038/srep04862
- By:
- Publication type:
- Article
FALS with FUS mutation in Japan, with early onset, rapid progress and basophilic inclusion.
- Published in:
- Journal of Human Genetics, 2015, v. 60, n. 10, p. 653, doi. 10.1038/jhg.2015.93
- By:
- Publication type:
- Article
Molecular epidemiology and clinical spectrum of hereditary spastic paraplegia in the Japanese population based on comprehensive mutational analyses.
- Published in:
- Journal of Human Genetics, 2014, v. 59, n. 3, p. 163, doi. 10.1038/jhg.2013.139
- By:
- Publication type:
- Article
Troglitazone Not Only Reduced Insulin Resistance but Also Improved Myotonia in a Patient with Myotonic Dystrophy.
- Published in:
- European Neurology, 1999, v. 41, n. 3, p. 171, doi. 10.1159/000008045
- By:
- Publication type:
- Article
Adrenoleukodystrophy: subcellular localization and degradation of adrenoleukodystrophy protein (ALDP/ABCD1) with naturally occurring missense mutations.
- Published in:
- Journal of Neurochemistry, 2007, v. 101, n. 6, p. 1632, doi. 10.1111/j.1471-4159.2007.04457.x
- By:
- Publication type:
- Article
Four parameters increase the sensitivity and specificity of the exon array analysis and disclose 25 novel aberrantly spliced exons in myotonic dystrophy.
- Published in:
- Journal of Human Genetics, 2012, v. 57, n. 6, p. 368, doi. 10.1038/jhg.2012.37
- By:
- Publication type:
- Article
Four parameters increase the sensitivity and specificity of the exon array analysis and disclose 25 novel aberrantly spliced exons in myotonic dystrophy.
- Published in:
- Journal of Human Genetics, 2012, v. 57, n. 6, p. 401, doi. 10.1038/jhg.2012.59
- By:
- Publication type:
- Article
FALS with FUS mutation in Japan, with early onset, rapid progress and basophilic inclusion.
- Published in:
- Journal of Human Genetics, 2010, v. 55, n. 4, p. 252, doi. 10.1038/jhg.2010.16
- By:
- Publication type:
- Article
The Src/c-Abl pathway is a potential therapeutic target in amyotrophic lateral sclerosis.
- Published in:
- Science Translational Medicine, 2017, v. 9, n. 391, p. 1, doi. 10.1126/scitranslmed.aaf3962
- By:
- Publication type:
- Article
An autopsy case of adult-onset hereditary spastic paraplegia type 2 with a novel mutation in exon 7 of the proteolipid protein 1 gene.
- Published in:
- 2011
- By:
- Publication type:
- Report
Multiple system degeneration with basophilic inclusions in Japanese ALS patients with FUS mutation.
- Published in:
- Acta Neuropathologica, 2010, v. 119, n. 3, p. 355, doi. 10.1007/s00401-009-0621-1
- By:
- Publication type:
- Article
Amyloid-β accumulation caused by chloroquine injections precedes ER stress and autophagosome formation in rat skeletal muscle.
- Published in:
- Acta Neuropathologica, 2009, v. 117, n. 5, p. 575, doi. 10.1007/s00401-009-0488-1
- By:
- Publication type:
- Article
Endoplasmic reticulum stress in myotonic dystrophy type 1 muscle.
- Published in:
- Acta Neuropathologica, 2007, v. 114, n. 5, p. 527, doi. 10.1007/s00401-007-0267-9
- By:
- Publication type:
- Article
Dysferlin expression in tubular aggregates: their possible relationship to endoplasmic reticulum stress.
- Published in:
- Acta Neuropathologica, 2003, v. 105, n. 6, p. 603, doi. 10.1007/s00401-003-0686-1
- By:
- Publication type:
- Article
Involvement of cathepsin B in the motor neuron degeneration of amyotrophic lateral sclerosis.
- Published in:
- Acta Neuropathologica, 2003, v. 105, n. 5, p. 462, doi. 10.1007/s00401-002-0667-9
- By:
- Publication type:
- Article
Disease progression and phenotypes of non‐motor symptoms in Parkinson's disease.
- Published in:
- Neurology & Clinical Neuroscience, 2021, v. 9, n. 1, p. 83, doi. 10.1111/ncn3.12468
- By:
- Publication type:
- Article
Transient thyrotoxicosis‐aggravated attacks of paralysis in a patient with hereditary hypokalemic periodic paralysis type 2.
- Published in:
- Neurology & Clinical Neuroscience, 2019, v. 7, n. 6, p. 354, doi. 10.1111/ncn3.12328
- By:
- Publication type:
- Article
Freezing of gait is an early clinical feature of progressive supranuclear palsy.
- Published in:
- Neurology & Clinical Neuroscience, 2017, v. 5, n. 3, p. 86, doi. 10.1111/ncn3.12122
- By:
- Publication type:
- Article
Relationship between tongue thickness and tongue pressure in neuromuscular disorders.
- Published in:
- Neurology & Clinical Neuroscience, 2016, v. 4, n. 4, p. 142, doi. 10.1111/ncn3.12058
- By:
- Publication type:
- Article
Autosomal recessive motor and sensory neuropathy with excessive myelin outfolding.
- Published in:
- Muscle & Nerve, 1989, v. 12, n. 7, p. 568, doi. 10.1002/mus.880120707
- By:
- Publication type:
- Article
Biochemical and genetic characterization of type I familial amyloidotic polyneuropathy.
- Published in:
- Annals of Neurology, 1987, v. 21, n. 6, p. 596, doi. 10.1002/ana.410210612
- By:
- Publication type:
- Article
Effects of cyclodextrins on GM1-gangliosides in fibroblasts from GM1-gangliosidosis patients.
- Published in:
- Journal of Pharmacy & Pharmacology, 2015, v. 67, n. 8, p. 1133, doi. 10.1111/jphp.12405
- By:
- Publication type:
- Article
Comparison of MRI and <sup>123</sup>I-FP-CIT SPECT for the evaluation of MSA-P clinical severity.
- Published in:
- Biomedical Reports, 2018, v. 8, n. 6, p. 523, doi. 10.3892/br.2018.1086
- By:
- Publication type:
- Article
HPGCD Outperforms HPBCD as a Potential Treatment for Niemann- Pick Disease Type C During Disease Modeling with i PS Cells.
- Published in:
- Stem Cells, 2015, v. 33, n. 4, p. 1075, doi. 10.1002/stem.1917
- By:
- Publication type:
- Article
Pathogenic Mutation of ALK2 Inhibits Induced Pluripotent Stem Cell Reprogramming and Maintenance: Mechanisms of Reprogramming and Strategy for Drug Identification.
- Published in:
- Stem Cells, 2012, v. 30, n. 11, p. 2437, doi. 10.1002/stem.1221
- By:
- Publication type:
- Article
Identification of a pre‐possible multiple system atrophy phase.
- Published in:
- Acta Neurologica Scandinavica, 2021, v. 143, n. 3, p. 313, doi. 10.1111/ane.13367
- By:
- Publication type:
- Article
Association of right precuneus compression with apathy in idiopathic normal pressure hydrocephalus: a pilot study.
- Published in:
- Scientific Reports, 2022, v. 12, n. 1, p. 1, doi. 10.1038/s41598-022-23800-x
- By:
- Publication type:
- Article
Impaired Food Transportation in Parkinson's Disease Related to Lingual Bradykinesia.
- Published in:
- Dysphagia (0179051X), 2011, v. 26, n. 3, p. 250, doi. 10.1007/s00455-010-9296-y
- By:
- Publication type:
- Article
Intracellular Aβ42 activates p53 promoter: a pathway to neurodegeneration in Alzheimer's disease.
- Published in:
- FASEB Journal, 2005, v. 19, n. 2, p. 255, doi. 10.1096/fj.04-2637fje
- By:
- Publication type:
- Article
Serial diffusion-weighted MRI in a case of Wilson’s disease with acute onset hemichorea.
- Published in:
- Journal of Neurology, 2004, v. 251, n. 11, p. 1413, doi. 10.1007/s00415-004-0555-4
- By:
- Publication type:
- Article
Increase in p53 Protein Levels by Presenilin 1 Gene Mutations and its Inhibition by Secretase Inhibitors.
- Published in:
- Journal of Alzheimer's Disease, 2009, v. 16, n. 3, p. 565, doi. 10.3233/JAD-2009-0990
- By:
- Publication type:
- Article
Enhancement of Activation of Caspases by Presenilin 1 Gene Mutations and its Inhibition by Secretase Inhibitors.
- Published in:
- Journal of Alzheimer's Disease, 2009, v. 16, n. 3, p. 551, doi. 10.3233/JAD-2009-0989
- By:
- Publication type:
- Article
Characteristics of tongue and pharyngeal pressure in patients with neuromuscular diseases.
- Published in:
- Degenerative Neurological & Neuromuscular Disease, 2017, v. 7, p. 71, doi. 10.2147/DNND.S132745
- By:
- Publication type:
- Article
Dysphagia in duchenne muscular dystrophy versus myotonic dystrophy type 1.
- Published in:
- Muscle & Nerve, 2012, v. 46, n. 4, p. 490, doi. 10.1002/mus.23364
- By:
- Publication type:
- Article
HLA-B*1511 is a risk factor for carbamazepine-induced Stevens-Johnson syndrome and toxic epidermal necrolysis in Japanese patients.
- Published in:
- Epilepsia (Series 4), 2010, v. 51, n. 12, p. 2461, doi. 10.1111/j.1528-1167.2010.02766.x
- By:
- Publication type:
- Article
Baicalein 5,6,7-trimethyl ether, a flavonoid derivative, stimulates fatty acid β-oxidation in skin fibroblasts of X-linked adrenoleukodystrophy
- Published in:
- FEBS Letters, 2005, v. 579, n. 2, p. 409, doi. 10.1016/j.febslet.2004.11.102
- By:
- Publication type:
- Article
SCA8 RAN polySer protein preferentially accumulates in white matter regions and is regulated by eIF3F.
- Published in:
- EMBO Journal, 2018, v. 37, n. 19, p. 1, doi. 10.15252/embj.201899023
- By:
- Publication type:
- Article