Works matching AU Pfeffer, Gerald
Results: 47
A Canadian Adult Spinal Muscular Atrophy Outcome Measures Toolkit: Results of a National Consensus using a Modified Delphi Method.
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- Journal of Neuromuscular Diseases, 2021, v. 8, n. 4, p. 579, doi. 10.3233/JND-200617
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- Article
Diagnosis and treatment of mitochondrial myopathies.
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- Annals of Medicine, 2013, v. 45, n. 1, p. 4, doi. 10.3109/07853890.2011.605389
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- Article
Multisystem Proteinopathy Due to VCP Mutations: A Review of Clinical Heterogeneity and Genetic Diagnosis.
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- Genes, 2022, v. 13, n. 6, p. 963, doi. 10.3390/genes13060963
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- Article
Colchicine Myopathy: A Case Series Including Muscle MRI and ABCB1 Polymorphism Data.
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- Frontiers in Neurology, 2019, p. 1, doi. 10.3389/fneur.2019.00553
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- Article
GNE Myopathy With Novel Mutations and Pronounced Paraspinal Muscle Atrophy.
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- Frontiers in Neurology, 2018, p. N.PAG, doi. 10.3389/fneur.2018.00942
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- Publication type:
- Article
Cardiac screening investigations in adult-onset progressive external ophthalmoplegia patients.
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- Muscle & Nerve, 2012, v. 46, n. 4, p. 593, doi. 10.1002/mus.23538
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- Article
Clonal Expansion of Secondary Mitochondrial DNA Deletions Associated With Spinocerebellar Ataxia Type 28.
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- JAMA Neurology, 2015, v. 72, n. 1, p. 106, doi. 10.1001/jamaneurol.2014.1753
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- Article
A new automated tool to quantify nucleoid distribution within mitochondrial networks.
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- Scientific Reports, 2021, v. 11, n. 1, p. 1, doi. 10.1038/s41598-021-01987-9
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- Article
Genetic Neuropathy Due to Impairments in Mitochondrial Dynamics.
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- Biology (2079-7737), 2021, v. 10, n. 4, p. 268, doi. 10.3390/biology10040268
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- Article
Respiratory management of patients with neuromuscular disease: current perspectives.
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- Degenerative Neurological & Neuromuscular Disease, 2016, v. 6, p. 111, doi. 10.2147/DNND.S87323
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- Article
Expression of risk genes linked to vitamin D receptor super-enhancer regions and their association with phenotype severity in multiple sclerosis.
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- Frontiers in Neurology, 2022, v. 13, p. 1, doi. 10.3389/fneur.2022.1064008
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- Article
Neuromuscular Complications of SARS-CoV-2 and Other Viral Infections.
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- Frontiers in Neurology, 2022, v. 13, p. 1, doi. 10.3389/fneur.2022.914411
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- Article
Longitudinal analysis of glymphatic function in amyotrophic lateral sclerosis and primary lateral sclerosis.
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- Brain: A Journal of Neurology, 2024, v. 147, n. 12, p. 4026, doi. 10.1093/brain/awae288
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- Article
Higher than expected incident cases of spinal bulbar muscular atrophy in western Canada.
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- Brain: A Journal of Neurology, 2024, v. 147, n. 5, p. e43, doi. 10.1093/brain/awae052
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- Article
Emerging therapies for mitochondrial disorders.
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- 2016
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- Publication type:
- journal 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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- Article
Skeletal Phenotypes Due to Abnormalities in Mitochondrial Protein Homeostasis and Import.
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- International Journal of Molecular Sciences, 2020, v. 21, n. 21, p. 8327, doi. 10.3390/ijms21218327
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- Article
Recessive Pathogenic GMPPB Variants Cause a Childhood Onset Myasthenic Syndrome Responsive to Pyridostigmine.
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- Canadian Journal of Neurological Sciences, 2024, v. 51, n. 4, p. 595, doi. 10.1017/cjn.2023.277
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- Article
New SOD1 Mutation Causing Rapid Amyotrophic Lateral Sclerosis with Nerve Root Enhancement.
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- Canadian Journal of Neurological Sciences, 2023, v. 50, n. 6, p. 932, doi. 10.1017/cjn.2022.311
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- Article
Response to Provincial Governments' Decisions Regarding Monitoring for Adults with Spinal Muscular Atrophy.
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- Canadian Journal of Neurological Sciences, 2021, v. 48, n. 2, p. 201, doi. 10.1017/cjn.2020.161
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- Article
Fentanyl Overdose Causing Hippocampal Ischaemia Followed by Delayed Leukoencephalopathy.
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- Canadian Journal of Neurological Sciences, 2020, v. 47, n. 3, p. 398, doi. 10.1017/cjn.2020.33
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- Article
Titinopathy in a Canadian Family Sharing the British Founder Haplotype.
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- 2014
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- Case Study
Levator Palpebrae Biopsy and Diagnosis of Progressive External Ophthalmoplegia.
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- Canadian Journal of Neurological Sciences, 2012, v. 39, n. 4, p. 520, doi. 10.1017/S0317167100014062
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- Article
Stroke in Young Women.
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- Canadian Journal of Neurological Sciences, 2011, v. 38, n. 3, p. 404, doi. 10.1017/S0317167100011781
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- Article
Multisystem Disorder in Late-Onset Chronic Progressive External Ophthalmoplegia.
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- Canadian Journal of Neurological Sciences, 2011, v. 38, n. 1, p. 119, doi. 10.1017/S031716710001115X
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- Article
Restricted Diffusion and Poor Clinical Outcome in Cerebral Fat Embolism Syndrome.
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- 2010
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- Case Study
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.
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- Frontiers in Genetics, 2022, v. 13, p. 1, doi. 10.3389/fgene.2022.815210
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- Article
Association Between BDNF Val66Met Polymorphism and Mild Behavioral Impairment in Patients With Parkinson's Disease.
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- Frontiers in Neurology, 2021, v. 11, p. N.PAG, doi. 10.3389/fneur.2020.587992
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- Article
Case Report: Calpainopathy Presenting After Bone Marrow Transplantation, With Studies of Donor Genetic Content in Various Tissue Types.
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- Frontiers in Neurology, 2021, v. 11, p. N.PAG, doi. 10.3389/fneur.2020.604547
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- Article
Systematic review of the clinical spectrum of CASPR2 antibody syndrome.
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- 2020
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- Literature Review
Erratum to: The neurological and ophthalmological manifestations of SPG4-related hereditary spastic paraplegia.
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- 2016
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- Publication type:
- Erratum
Diagnosis of muscle diseases presenting with early respiratory failure.
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- Journal of Neurology, 2015, v. 262, n. 5, p. 1101, doi. 10.1007/s00415-014-7526-1
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- Article
The neurological and ophthalmological manifestations of SPG4-related hereditary spastic paraplegia.
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- 2013
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- Publication type:
- Letter
Pharmacologic activation of integrated stress response kinases inhibits pathologic mitochondrial fragmentation.
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- eLife, 2025, p. 1, doi. 10.7554/eLife.100541
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- Publication type:
- Article
Development of a standard of care for patients with valosin-containing protein associated multisystem proteinopathy.
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- 2022
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- Publication type:
- journal 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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- Article
Investigating the relationship between the SNCA gene and cognitive abilities in idiopathic Parkinson's disease using machine learning.
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- Scientific Reports, 2021, v. 11, n. 1, p. 1, doi. 10.1038/s41598-021-84316-4
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- Article
Myopathy With SQSTM1 and TIA1 Variants: clinical and Pathological Features.
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- Frontiers in Neurology, 2018, p. 1, doi. 10.3389/fneur.2018.00147
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- Article
The Role of Vitamin D in Neuroprotection in Multiple Sclerosis: An Update.
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- Nutrients, 2023, v. 15, n. 13, p. 2978, doi. 10.3390/nu15132978
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- Publication type:
- Article
High diagnostic yield and novel variants in very late-onset spasticity.
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- Journal of Neurogenetics, 2019, v. 33, n. 1, p. 27, doi. 10.1080/01677063.2019.1566326
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- Article
Provisional practice recommendation for the management of myopathy in VCP‐associated multisystem proteinopathy.
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- Annals of Clinical & Translational Neurology, 2023, v. 10, n. 5, p. 686, doi. 10.1002/acn3.51760
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- Article
Exome sequencing in undiagnosed inherited and sporadic ataxias.
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- Brain: A Journal of Neurology, 2015, v. 138, n. 2, p. 276, doi. 10.1093/brain/awu348
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- Article
Reply: Hereditary myopathy with early respiratory failure is caused by mutations in the titin FN3 119 domain.
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- Brain: A Journal of Neurology, 2014, v. 137, n. 6, p. e280, doi. 10.1093/brain/awu034
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- 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
Titin mutation segregates with hereditary myopathy with early respiratory failure.
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- Brain: A Journal of Neurology, 2012, v. 135, n. 6, p. 1695, doi. 10.1093/brain/aws102
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- Publication type:
- Article
Identification of a mosaic MTOR variant in purified neuronal DNA in a patient with focal cortical dysplasia using a novel depth electrode harvesting technique.
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- Epilepsia (Series 4), 2024, v. 65, n. 6, p. 1768, doi. 10.1111/epi.17980
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- Article