Found: 34
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Identification of a mosaic MTOR variant in purified neuronal DNA in a patient with focal cortical dysplasia using a novel depth electrode harvesting technique.
- Published in:
- Epilepsia (Series 4), 2024, v. 65, n. 6, p. 1768, doi. 10.1111/epi.17980
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- Publication type:
- Article
Valosin-Containing Protein (VCP): A Review of Its Diverse Molecular Functions and Clinical Phenotypes.
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- International Journal of Molecular Sciences, 2024, v. 25, n. 11, p. 5633, doi. 10.3390/ijms25115633
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- Publication type:
- Article
Higher than expected incident cases of spinal bulbar muscular atrophy in western Canada.
- Published in:
- Brain: A Journal of Neurology, 2024, v. 147, n. 5, p. e43, doi. 10.1093/brain/awae052
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- Publication type:
- Article
Prognostic Utility of Cardiovascular Magnetic Resonance-Based Phenotyping in Patients With Muscular Dystrophy.
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- Journal of the American Heart Association, 2023, v. 12, n. 21, p. 1, doi. 10.1161/JAHA.123.030229
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- Publication type:
- Article
The Role of Vitamin D in Neuroprotection in Multiple Sclerosis: An Update.
- Published in:
- Nutrients, 2023, v. 15, n. 13, p. 2978, doi. 10.3390/nu15132978
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- Publication type:
- Article
Provisional practice recommendation for the management of myopathy in VCP‐associated multisystem proteinopathy.
- Published in:
- Annals of Clinical & Translational Neurology, 2023, v. 10, n. 5, p. 686, doi. 10.1002/acn3.51760
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- Publication type:
- Article
Expression of risk genes linked to vitamin D receptor super-enhancer regions and their association with phenotype severity in multiple sclerosis.
- Published in:
- Frontiers in Neurology, 2022, v. 13, p. 1, doi. 10.3389/fneur.2022.1064008
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- Publication type:
- Article
Neuromuscular Complications of SARS-CoV-2 and Other Viral Infections.
- Published in:
- Frontiers in Neurology, 2022, v. 13, p. 1, doi. 10.3389/fneur.2022.914411
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- Publication type:
- Article
Multisystem Proteinopathy Due to VCP Mutations: A Review of Clinical Heterogeneity and Genetic Diagnosis.
- Published in:
- Genes, 2022, v. 13, n. 6, p. 963, doi. 10.3390/genes13060963
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- Publication type:
- Article
Development of a standard of care for patients with valosin-containing protein associated multisystem proteinopathy.
- Published in:
- 2022
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- Publication type:
- journal article
Case Report: Biallelic Loss of Function ATM due to Pathogenic Synonymous and Novel Deep Intronic Variant c.1803-270T > G Identified by Genome Sequencing in a Child With Ataxia–Telangiectasia.
- Published in:
- Frontiers in Genetics, 2022, v. 13, p. 1, doi. 10.3389/fgene.2022.815210
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- Publication type:
- Article
A new automated tool to quantify nucleoid distribution within mitochondrial networks.
- Published in:
- Scientific Reports, 2021, v. 11, n. 1, p. 1, doi. 10.1038/s41598-021-01987-9
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- Publication type:
- Article
A Canadian Adult Spinal Muscular Atrophy Outcome Measures Toolkit: Results of a National Consensus using a Modified Delphi Method.
- Published in:
- Journal of Neuromuscular Diseases, 2021, v. 8, n. 4, p. 579, doi. 10.3233/JND-200617
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- Publication type:
- Article
Genetic Neuropathy Due to Impairments in Mitochondrial Dynamics.
- Published in:
- Biology (2079-7737), 2021, v. 10, n. 4, p. 268, doi. 10.3390/biology10040268
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- Publication type:
- Article
Investigating the relationship between the SNCA gene and cognitive abilities in idiopathic Parkinson's disease using machine learning.
- Published in:
- Scientific Reports, 2021, v. 11, n. 1, p. 1, doi. 10.1038/s41598-021-84316-4
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- Publication type:
- Article
Association Between BDNF Val66Met Polymorphism and Mild Behavioral Impairment in Patients With Parkinson's Disease.
- Published in:
- Frontiers in Neurology, 2021, v. 11, p. N.PAG, doi. 10.3389/fneur.2020.587992
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- Publication type:
- Article
Case Report: Calpainopathy Presenting After Bone Marrow Transplantation, With Studies of Donor Genetic Content in Various Tissue Types.
- Published in:
- Frontiers in Neurology, 2021, v. 11, p. N.PAG, doi. 10.3389/fneur.2020.604547
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- Publication type:
- Article
Skeletal Phenotypes Due to Abnormalities in Mitochondrial Protein Homeostasis and Import.
- Published in:
- International Journal of Molecular Sciences, 2020, v. 21, n. 21, p. 8327, doi. 10.3390/ijms21218327
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- Publication type:
- Article
Systematic review of the clinical spectrum of CASPR2 antibody syndrome.
- Published in:
- Journal of Neurology, 2020, v. 267, n. 4, p. 1137, doi. 10.1007/s00415-019-09686-2
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- Publication type:
- Article
Colchicine Myopathy: A Case Series Including Muscle MRI and ABCB1 Polymorphism Data.
- Published in:
- Frontiers in Neurology, 2019, p. 1, doi. 10.3389/fneur.2019.00553
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- Publication type:
- Article
GNE Myopathy With Novel Mutations and Pronounced Paraspinal Muscle Atrophy.
- Published in:
- Frontiers in Neurology, 2018, p. N.PAG, doi. 10.3389/fneur.2018.00942
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- Publication type:
- Article
Myopathy With SQSTM1 and TIA1 Variants: clinical and Pathological Features.
- Published in:
- Frontiers in Neurology, 2018, p. 1, doi. 10.3389/fneur.2018.00147
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- Publication type:
- Article
Respiratory management of patients with neuromuscular disease: current perspectives.
- Published in:
- Degenerative Neurological & Neuromuscular Disease, 2016, v. 6, p. 111, doi. 10.2147/DNND.S87323
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- Publication type:
- Article
Emerging therapies for mitochondrial disorders.
- Published in:
- 2016
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- Publication type:
- journal article
Erratum to: The neurological and ophthalmological manifestations of SPG4-related hereditary spastic paraplegia.
- Published in:
- 2016
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- Publication type:
- Erratum
Diagnosis of muscle diseases presenting with early respiratory failure.
- Published in:
- Journal of Neurology, 2015, v. 262, n. 5, p. 1101, doi. 10.1007/s00415-014-7526-1
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- Publication type:
- Article
Exome sequencing in undiagnosed inherited and sporadic ataxias.
- Published in:
- Brain: A Journal of Neurology, 2015, v. 138, n. 2, p. 276, doi. 10.1093/brain/awu348
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- Publication type:
- Article
Clonal Expansion of Secondary Mitochondrial DNA Deletions Associated With Spinocerebellar Ataxia Type 28.
- Published in:
- JAMA Neurology, 2015, v. 72, n. 1, p. 106, doi. 10.1001/jamaneurol.2014.1753
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- Publication type:
- Article
Reply: Hereditary myopathy with early respiratory failure is caused by mutations in the titin FN3 119 domain.
- Published in:
- Brain: A Journal of Neurology, 2014, v. 137, n. 6, p. e280, doi. 10.1093/brain/awu034
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- Publication type:
- Article
Mutations in the SPG7 gene cause chronic progressive external ophthalmoplegia through disordered mitochondrial DNA maintenance.
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- Brain: A Journal of Neurology, 2014, v. 137, n. 5, p. 1323, doi. 10.1093/brain/awu060
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- Publication type:
- Article
Reply: Hereditary myopathy with early respiratory failure is caused by mutations in the titin FN3 119 domain.
- Published in:
- Brain: A Journal of Neurology, 2014, v. 137, n. 4, p. e271, doi. 10.1093/brain/awt306
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- Publication type:
- Article
The neurological and ophthalmological manifestations of SPG4-related hereditary spastic paraplegia.
- Published in:
- 2013
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- Publication type:
- Letter
Cardiac screening investigations in adult-onset progressive external ophthalmoplegia patients.
- Published in:
- Muscle & Nerve, 2012, v. 46, n. 4, p. 593, doi. 10.1002/mus.23538
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- Publication type:
- Article
Titin mutation segregates with hereditary myopathy with early respiratory failure.
- Published in:
- Brain: A Journal of Neurology, 2012, v. 135, n. 6, p. 1695, doi. 10.1093/brain/aws102
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- Publication type:
- Article