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View article: Conference proceedings from the Western Canadian Neuromuscular Conference (WCNMC) — September 27–29, 2024, Calgary, Canada
Conference proceedings from the Western Canadian Neuromuscular Conference (WCNMC) — September 27–29, 2024, Calgary, Canada Open
The Western Canadian Neuromuscular Conference (WCNMC) is a conference focused on neuromuscular medicine that was held in Calgary, Alberta from September 27–29, 2024. Although WCNMC has a history going back to 2010 as a regional event, the …
View article: Best practice recommendations for the clinical care of spinal bulbar muscular atrophy
Best practice recommendations for the clinical care of spinal bulbar muscular atrophy Open
In this guideline, we provide health care professionals with a culturally responsive standard of care for SBMA, and hope this will translate into improved quality of life for people affected by SBMA.
View article: Financial Toxicity and Its Determinants in Individuals Living With Inherited and Acquired Neuromuscular Disorders
Financial Toxicity and Its Determinants in Individuals Living With Inherited and Acquired Neuromuscular Disorders Open
FT is highly prevalent among people living with NMDs, particularly caregivers and those with socioeconomic and clinical vulnerabilities. Policies to improve financial support and health care coverage for NMD-related needs could help allevi…
View article: Assessing the socio-economic burden of inherited and inflammatory neuromuscular diseases (BIND study): a study protocol
Assessing the socio-economic burden of inherited and inflammatory neuromuscular diseases (BIND study): a study protocol Open
Introduction Neuromuscular diseases (NMDs) are rare multisystem, genetic or acquired disorders causing weakness and/or sensory loss. It is essential for governments, insurance providers, and broader society to have a better understanding o…
View article: Identification of a Second‐Hit Brain Somatic <scp> <i>DEPDC5</i> </scp> Variant Supports Causality of a <scp> <i>DEPDC5</i> </scp> Germline Variant of Uncertain Significance. Time for a Classification Update?
Identification of a Second‐Hit Brain Somatic <span> <i>DEPDC5</i> </span> Variant Supports Causality of a <span> <i>DEPDC5</i> </span> Germline Variant of Uncertain Significance. Time for a Classification Update? Open
Germline variants in DEPDC5 are a cause of familial focal epilepsy with variable foci. Affected individuals may have focal cortical dysplasia if a second brain somatic variant occurs. As access to brain tissue is limited, the second somati…
View article: Tofersen Treatment Normalizes Neurofilament Levels in Autosomal Recessive <i>SOD1</i> Amyotrophic Lateral Sclerosis
Tofersen Treatment Normalizes Neurofilament Levels in Autosomal Recessive <i>SOD1</i> Amyotrophic Lateral Sclerosis Open
View article: CD2AP at the junction of nephropathy and Alzheimer’s disease
CD2AP at the junction of nephropathy and Alzheimer’s disease Open
View article: From Doubt to Diagnosis: Canadian Patient Perspectives on a Limb‐Girdle Muscular Dystrophy Diagnosis
From Doubt to Diagnosis: Canadian Patient Perspectives on a Limb‐Girdle Muscular Dystrophy Diagnosis Open
Introduction Limb‐girdle muscular dystrophies (LGMDs) encompass a rare and genetically diverse set of disorders, posing challenges in diagnosis due to the absence of distinct pathological features, leading to frequent misdiagnoses and inad…
View article: <scp><i>FGF14</i> GAA</scp> Intronic Expansion in Unsolved Adult‐Onset Ataxia in the <scp>Care4Rare</scp> Canada Consortium
<span><i>FGF14</i> GAA</span> Intronic Expansion in Unsolved Adult‐Onset Ataxia in the <span>Care4Rare</span> Canada Consortium Open
Background and Objectives Spinocerebellar ataxias (SCA) represent a clinically and genetically heterogeneous group of progressive neurodegenerative diseases with prominent cerebellar atrophy. Recently, a novel pathogenic repeat expansion i…
View article: The MFN2 Q367H variant reveals a novel pathomechanism connected to mtDNA-mediated inflammation
The MFN2 Q367H variant reveals a novel pathomechanism connected to mtDNA-mediated inflammation Open
Pathogenic variants in the mitochondrial protein MFN2 are typically associated with a peripheral neuropathy phenotype, but can also cause a variety of additional pathologies including myopathy. Here, we identified an uncharacterized MFN2 v…
View article: 2024 VCP International Conference: Exploring multi-disciplinary approaches from basic science of valosin containing protein, an AAA+ ATPase protein, to the therapeutic advancement for VCP-associated multisystem proteinopathy
2024 VCP International Conference: Exploring multi-disciplinary approaches from basic science of valosin containing protein, an AAA+ ATPase protein, to the therapeutic advancement for VCP-associated multisystem proteinopathy Open
Valosin-containing protein (VCP/p97) is a ubiquitously expressed AAA+ ATPase associated with numerous protein-protein interactions and critical cellular functions including protein degradation and clearance, mitochondrial homeostasis, DNA …
View article: Pharmacologic activation of integrated stress response kinases inhibits pathologic mitochondrial fragmentation
Pharmacologic activation of integrated stress response kinases inhibits pathologic mitochondrial fragmentation Open
Excessive mitochondrial fragmentation is associated with the pathologic mitochondrial dysfunction implicated in the pathogenesis of etiologically diverse diseases, including many neurodegenerative disorders. The integrated stress response …
View article: Author response: Pharmacologic activation of integrated stress response kinases inhibits pathologic mitochondrial fragmentation
Author response: Pharmacologic activation of integrated stress response kinases inhibits pathologic mitochondrial fragmentation Open
View article: 2024 VCP International Conference: Exploring multi - disciplinary approaches from basic science of valosin containing protein, an AAA+ ATPase protein , to the therapeutic advancement for VCP - associated multisystem proteinopathy
2024 VCP International Conference: Exploring multi - disciplinary approaches from basic science of valosin containing protein, an AAA+ ATPase protein , to the therapeutic advancement for VCP - associated multisystem proteinopathy Open
Valosin-containing protein (VCP/p97) is a ubiquitously expressed AAA+ ATPase associated with numerous protein-protein interactions and critical cellular functions including protein degradation and clearance, mitochondrial homeostasis, DNA …
View article: Pharmacologic Activation of Integrated Stress Response Kinases Inhibits Pathologic Mitochondrial Fragmentation
Pharmacologic Activation of Integrated Stress Response Kinases Inhibits Pathologic Mitochondrial Fragmentation Open
Summary Excessive mitochondrial fragmentation is associated with the pathologic mitochondrial dysfunction implicated in the pathogenesis of etiologically-diverse diseases, including many neurodegenerative disorders. The integrated stress r…
View article: Author response: Pharmacologic Activation of Integrated Stress Response Kinases Inhibits Pathologic Mitochondrial Fragmentation
Author response: Pharmacologic Activation of Integrated Stress Response Kinases Inhibits Pathologic Mitochondrial Fragmentation Open
View article: Detecting somatic variants in purified brain <scp>DNA</scp> obtained from surgically implanted depth electrodes in epilepsy
Detecting somatic variants in purified brain <span>DNA</span> obtained from surgically implanted depth electrodes in epilepsy Open
Objective Somatic variants causing epilepsy are challenging to detect, as they are only present in a subset of brain cells (e.g., mosaic), resulting in low variant allele frequencies. Traditional methods relying on surgically resected brai…
View article: Pharmacologic Activation of Integrated Stress Response Kinases Inhibits Pathologic Mitochondrial Fragmentation
Pharmacologic Activation of Integrated Stress Response Kinases Inhibits Pathologic Mitochondrial Fragmentation Open
Summary Excessive mitochondrial fragmentation is associated with the pathologic mitochondrial dysfunction implicated in the pathogenesis of etiologically-diverse diseases, including many neurodegenerative disorders. The integrated stress r…
View article: Pharmacologic activation of integrated stress response kinases inhibits pathologic mitochondrial fragmentation
Pharmacologic activation of integrated stress response kinases inhibits pathologic mitochondrial fragmentation Open
Excessive mitochondrial fragmentation is associated with the pathologic mitochondrial dysfunction implicated in the pathogenesis of etiologically diverse diseases, including many neurodegenerative disorders. The integrated stress response …
View article: Longitudinal analysis of glymphatic function in amyotrophic lateral sclerosis and primary lateral sclerosis
Longitudinal analysis of glymphatic function in amyotrophic lateral sclerosis and primary lateral sclerosis Open
Amyotrophic lateral sclerosis (ALS) is a neurodegenerative disorder of motor neurons in the brain and spinal cord. Accumulation of misfolded proteins is central to the pathogenesis of ALS and the glymphatic system is emerging as a potentia…
View article: The gut microbiota is a determinant of sexual dimorphism in ALS-linked TDP43 mice
The gut microbiota is a determinant of sexual dimorphism in ALS-linked TDP43 mice Open
The mechanisms underlying the earlier onset and male predominance of amyotrophic lateral sclerosis (ALS), the most common form of human motoneuron disease, are poorly understood. Here we show that the gut microbiota protects against TDP43 …
View article: The MFN2 Q367H variant reveals a novel pathomechanism connected to mtDNA-mediated inflammation
The MFN2 Q367H variant reveals a novel pathomechanism connected to mtDNA-mediated inflammation Open
Pathogenic variants in the mitochondrial protein MFN2 are typically associated with a peripheral neuropathy phenotype, but can also include a variety of additional pathologies including myopathy. Here, we identified a previously uncharacte…
View article: Pharmacologic Activation of Integrated Stress Response Kinases Inhibits Pathologic Mitochondrial Fragmentation
Pharmacologic Activation of Integrated Stress Response Kinases Inhibits Pathologic Mitochondrial Fragmentation Open
SUMMARY Excessive mitochondrial fragmentation is associated with the pathologic mitochondrial dysfunction implicated in the pathogenesis of etiologically-diverse diseases, including many neurodegenerative disorders. The integrated stress r…
View article: Valosin-Containing Protein (VCP): A Review of Its Diverse Molecular Functions and Clinical Phenotypes
Valosin-Containing Protein (VCP): A Review of Its Diverse Molecular Functions and Clinical Phenotypes Open
In this review we examine the functionally diverse ATPase associated with various cellular activities (AAA-ATPase), valosin-containing protein (VCP/p97), its molecular functions, the mutational landscape of VCP and the phenotypic manifesta…
View article: Identification of a mosaic <i>MTOR</i> variant in purified neuronal <scp>DNA</scp> in a patient with focal cortical dysplasia using a novel depth electrode harvesting technique
Identification of a mosaic <i>MTOR</i> variant in purified neuronal <span>DNA</span> in a patient with focal cortical dysplasia using a novel depth electrode harvesting technique Open
Objective Recent studies have identified brain somatic variants as a cause of focal epilepsy. These studies relied on resected tissue from epilepsy surgery, which is not available in most patients. The use of trace tissue adherent to depth…
View article: Higher than expected incident cases of spinal bulbar muscular atrophy in western Canada
Higher than expected incident cases of spinal bulbar muscular atrophy in western Canada Open
View article: Identification of a novel mosaic<i>MTOR</i>variant in purified neuronal DNA from depth electrodes in a patient with focal cortical dysplasia
Identification of a novel mosaic<i>MTOR</i>variant in purified neuronal DNA from depth electrodes in a patient with focal cortical dysplasia Open
Background Recent studies have identified brain somatic variants as a cause of focal epilepsy. These studies relied on resected tissue from epilepsy surgery which is not available in most patients. The use of trace tissue adherent to depth…
View article: Life-Saving Treatments for Spinal Muscular Atrophy
Life-Saving Treatments for Spinal Muscular Atrophy Open
Overall, this survey highlights the global inequality in managing patients with SMA. The spread of newborn screening is essential in ensuring improved access to care for patients with SMA. With the advancement of neurotherapeutics, more ge…
View article: Prognostic Utility of Cardiovascular Magnetic Resonance–Based Phenotyping in Patients With Muscular Dystrophy
Prognostic Utility of Cardiovascular Magnetic Resonance–Based Phenotyping in Patients With Muscular Dystrophy Open
Background The prognostic utility of cardiovascular magnetic resonance imaging, including strain analysis and tissue characterization, has not been comprehensively investigated in adult patients with muscular dystrophy. Methods and Results…
View article: Recessive Pathogenic <i>GMPPB</i> Variants Cause a Childhood Onset Myasthenic Syndrome Responsive to Pyridostigmine
Recessive Pathogenic <i>GMPPB</i> Variants Cause a Childhood Onset Myasthenic Syndrome Responsive to Pyridostigmine Open
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