Found: 22
Select item for more details and to access through your institution.
A Japanese familial ALS patient with autonomic failure and a p.Cys146Arg mutation in the gene for SOD1 ( SOD1).
- Published in:
- Neuropathology, 2016, v. 36, n. 6, p. 551, doi. 10.1111/neup.12303
- By:
- Publication type:
- Article
A Japanese patient with familial ALS and a p. K510M mutation in the gene for FUS ( FUS) resulting in the totally locked-in state.
- Published in:
- Neuropathology, 2014, v. 34, n. 5, p. 504, doi. 10.1111/neup.12130
- By:
- Publication type:
- Article
Pleiotropic role of the Sco1/SenC family copper chaperone in the physiology of Streptomyces.
- Published in:
- Microbial Biotechnology, 2012, v. 5, n. 4, p. 477, doi. 10.1111/j.1751-7915.2011.00319.x
- By:
- Publication type:
- Article
A clinical and genetic study in a large cohort of patients with spinocerebellar ataxia type 6.
- Published in:
- Journal of Human Genetics, 2004, v. 49, n. 5, p. 256, doi. 10.1007/s10038-004-0142-7
- By:
- Publication type:
- Article
Myoclonic Epilepsy with Ragged-red Fibers with Intranuclear Inclusions.
- Published in:
- Internal Medicine, 2022, v. 61, n. 4, p. 547, doi. 10.2169/internalmedicine.7767-21
- By:
- Publication type:
- Article
Prediction Model of Amyotrophic Lateral Sclerosis by Deep Learning with Patient Induced Pluripotent Stem Cells.
- Published in:
- Annals of Neurology, 2021, v. 89, n. 6, p. 1226, doi. 10.1002/ana.26047
- By:
- Publication type:
- Article
Optineurin is co-localized with FUS in basophilic inclusions of ALS with FUS mutation and in basophilic inclusion body disease.
- Published in:
- 2011
- By:
- Publication type:
- Letter
Mutations of optineurin in amyotrophic lateral sclerosis.
- Published in:
- Nature, 2010, v. 465, n. 7295, p. 223, doi. 10.1038/nature08971
- By:
- Publication type:
- Article
Early disintegration of myonuclear fibrous lamina in inclusion body myositis: Ultrastructural and immunohistochemical studies.
- Published in:
- Clinical & Experimental Neuroimmunology, 2016, v. 7, n. 2, p. 185, doi. 10.1111/cen3.12287
- By:
- Publication type:
- Article
Randomized phase 2 study of perampanel for sporadic amyotrophic lateral sclerosis.
- Published in:
- Journal of Neurology, 2022, v. 269, n. 2, p. 885, doi. 10.1007/s00415-021-10670-y
- By:
- Publication type:
- Article
Prognostic significance of body weight variation after diagnosis in ALS: a single-centre prospective cohort study.
- Published in:
- Journal of Neurology, 2019, v. 266, n. 6, p. 1412, doi. 10.1007/s00415-019-09276-2
- By:
- Publication type:
- Article
Quantitative analysis of the features of fasciculation potentials and their relation with muscle strength in amyotrophic lateral sclerosis.
- Published in:
- 2016
- By:
- Publication type:
- journal article
Association of ubiquitin carboxy-terminal hydrolase-L1 in cerebrospinal fluid with clinical severity in a cohort of patients with Guillain-Barré syndrome.
- Published in:
- 2015
- By:
- Publication type:
- journal article
Association of ubiquitin carboxy-terminal hydrolase-L1 in cerebrospinal fluid with clinical severity in a cohort of patients with Guillain-Barré syndrome.
- Published in:
- Neurological Sciences, 2015, v. 36, n. 6, p. 921, doi. 10.1007/s10072-015-2137-x
- By:
- Publication type:
- Article
Neuromelanin imaging analyses of the substantia nigra in patients with Machado-Joseph disease.
- Published in:
- Neuroradiology, 2020, v. 62, n. 11, p. 1433, doi. 10.1007/s00234-020-02479-9
- By:
- Publication type:
- Article
The crucial role of caspase-9 in the disease progression of a transgenic ALS mouse model.
- Published in:
- EMBO Journal, 2003, v. 22, n. 24, p. 6665, doi. 10.1093/emboj/cdg634
- By:
- Publication type:
- Article
Clinicopathologic Features of Oculopharyngodistal Myopathy With LRP12 CGG Repeat Expansions Compared With Other Oculopharyngodistal Myopathy Subtypes.
- Published in:
- JAMA Neurology, 2021, v. 78, n. 7, p. 853, doi. 10.1001/jamaneurol.2021.1509
- By:
- Publication type:
- Article
A case of late adult-onset dentatorubral-pallidoluysian atrophy mimicking central pontine myelinolysis.
- Published in:
- 2009
- By:
- Publication type:
- Letter
Absence of SOD1 gene abnormalities in familial amyotrophic lateral sclerosis with posterior column involvement without Lewy-body-like hyaline inclusions.
- Published in:
- Acta Neuropathologica, 1996, v. 92, n. 5, p. 528, doi. 10.1007/s004010050557
- By:
- Publication type:
- Article
Body Weight Gain Is Associated with the Disease Stage in Advanced Amyotrophic Lateral Sclerosis with Invasive Ventilation.
- Published in:
- Metabolites (2218-1989), 2022, v. 12, n. 2, p. N.PAG, doi. 10.3390/metabo12020191
- By:
- Publication type:
- Article
Non-motor manifestations in ALS patients with tracheostomy and invasive ventilation.
- Published in:
- 2018
- By:
- Publication type:
- journal article
Predictive factors for prognosis following unsedated percutaneous endoscopic gastrostomy in ALS patients.
- Published in:
- 2016
- By:
- Publication type:
- journal article