Debra Ehrlich
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View article: A plasma proteomics-based candidate biomarker panel predictive of amyotrophic lateral sclerosis
A plasma proteomics-based candidate biomarker panel predictive of amyotrophic lateral sclerosis Open
Identifying a reliable biomarker for amyotrophic lateral sclerosis (ALS) is crucial for clinical practice. Here, in this cross-sectional study, we used the Olink Explore 3072 platform to investigate plasma proteomics as a biomarker tool fo…
View article: Clinical Neurophysiological Study for the Diagnosis of Functional Cranial–Cervical Dystonia
Clinical Neurophysiological Study for the Diagnosis of Functional Cranial–Cervical Dystonia Open
Objectives The differential diagnosis of functional and other etiologies of dystonia can be difficult. We performed a clinical neurophysiological study in a female patient with cranial–cervical dystonia, providing strong evidence for the d…
View article: Persistent GDNF Expression 45 Months after Putaminal Infusion of AAV2‐<i>GDNF</i> in a Patient with Parkinson's Disease
Persistent GDNF Expression 45 Months after Putaminal Infusion of AAV2‐<i>GDNF</i> in a Patient with Parkinson's Disease Open
Objective Gene therapy by convection‐enhanced delivery of type 2 adeno‐associated virus‐glial cell derived neurotrophic factor (AAV2‐GDNF) to the bilateral putamina seeks to increase GDNF gene expression and treat Parkinson's disease (PD).…
View article: A randomized feasibility trial of medium chain triglyceride-supplemented ketogenic diet in people with Parkinson's disease
A randomized feasibility trial of medium chain triglyceride-supplemented ketogenic diet in people with Parkinson's disease Open
Background A ketogenic diet (KD) may benefit people with neurodegenerative disorders marked by mitochondrial depolarization/insufficiency, including Parkinson’s disease (PD). Objective Evaluate whether a KD supplemented by medium chain tri…
View article: A randomized feasibility trial of nutritional ketosis in Parkinson's disease
A randomized feasibility trial of nutritional ketosis in Parkinson's disease Open
BACKGROUND: A ketogenic diet (KD) may benefit people with neurodegenerative disorders marked by mitochondrial depolarization/insufficiency, including Parkinson’s disease (PD). OBJECTIVE: Evaluate whether a KD supplemented by medium chain t…
View article: Large-scale rare variant burden testing in Parkinson's disease
Large-scale rare variant burden testing in Parkinson's disease Open
Parkinson’s disease has a large heritable component and genome-wide association studies have identified over 90 variants with disease-associated common variants, providing deeper insights into the disease biology. However, there have not b…
View article: Association of polygenic risk score with response to deep brain stimulation in Parkinson’s disease
Association of polygenic risk score with response to deep brain stimulation in Parkinson’s disease Open
Background Deep brain stimulation (DBS) is a well-established treatment option for select patients with Parkinson’s Disease (PD). However, response to DBS varies, therefore, the ability to predict who will have better outcomes can aid pati…
View article: Genome‐Wide Analysis of Structural Variants in Parkinson Disease
Genome‐Wide Analysis of Structural Variants in Parkinson Disease Open
Objective Identification of genetic risk factors for Parkinson disease (PD) has to date been primarily limited to the study of single nucleotide variants, which only represent a small fraction of the genetic variation in the human genome. …
View article: Electrophysiological Characterization of a <scp><i>MYH7</i></scp> Variant with Tremor Phenotype
Electrophysiological Characterization of a <span><i>MYH7</i></span> Variant with Tremor Phenotype Open
Background The concept of a myopathy with associated tremor (“myogenic tremor”) in humans has been previously described for specific MYBPC1 (Myosin‐Binding Protein C) variants. Here we report for the first time an individual with tremor wh…
View article: Large-scale Rare Variant Burden Testing in Parkinson’s Disease Identifies Novel Associations with Genes Involved in Neuro-inflammation
Large-scale Rare Variant Burden Testing in Parkinson’s Disease Identifies Novel Associations with Genes Involved in Neuro-inflammation Open
Parkinson’s disease (PD) has a large heritable component and genome-wide association studies to date have identified over 90 variants associated with PD, providing deeper insights into the disease biology. However, there have not been larg…
View article: Parkinson Disease and Subthalamic Nucleus Deep Brain Stimulation: Cognitive Effects in <scp><i>GBA</i></scp> Mutation Carriers
Parkinson Disease and Subthalamic Nucleus Deep Brain Stimulation: Cognitive Effects in <span><i>GBA</i></span> Mutation Carriers Open
Objective This study was undertaken to compare the rate of change in cognition between glucocerebrosidase ( GBA ) mutation carriers and noncarriers with and without subthalamic nucleus deep brain stimulation (STN‐DBS) in Parkinson disease.…
View article: Heterozygous <i>PRKN</i> mutations are common but do not increase the risk of Parkinson’s disease
Heterozygous <i>PRKN</i> mutations are common but do not increase the risk of Parkinson’s disease Open
PRKN mutations are the most common recessive cause of Parkinson’s disease and are a promising target for gene and cell replacement therapies. Identification of biallelic PRKN patients at the population scale, however, remains a challenge, …
View article: Physiology of Tremor Reduction by Putting the Hands Together in Essential Tremor
Physiology of Tremor Reduction by Putting the Hands Together in Essential Tremor Open
Background Essential tremor is a common movement disorder, characterized by 4–12 Hz tremor of the hands and arms that can affect many activities of daily living. It has been reported by patients that when performing tasks bimanually their …
View article: Heterozygous <i>PRKN</i> mutations are common but do not increase the risk of Parkinson’s disease
Heterozygous <i>PRKN</i> mutations are common but do not increase the risk of Parkinson’s disease Open
PRKN mutations are the most common recessive cause of Parkinson’s disease (PD) and are a promising target for gene and cell replacement therapies. Identification of biallelic PRKN patients (PRKN-PD) at the population scale, however, remain…
View article: <scp>α‐Synuclein</scp> Deposition in Sympathetic Nerve Fibers in Genetic Forms of Parkinson's Disease
<span>α‐Synuclein</span> Deposition in Sympathetic Nerve Fibers in Genetic Forms of Parkinson's Disease Open
Background Cytoplasmic inclusions of α‐synuclein (α‐syn) in brainstem neurons are characteristic of idiopathic Parkinson's disease (PD). PD also entails α‐syn buildup in sympathetic nerves. Among genetic forms of PD, the relative extents o…
View article: Correction to: Large‑scale pathway specific polygenic risk and transcriptomic community network analysis identifies novel functional pathways in Parkinson disease
Correction to: Large‑scale pathway specific polygenic risk and transcriptomic community network analysis identifies novel functional pathways in Parkinson disease Open
A correction to this paper has been published: https://doi.org/10.1007/s00401-021-02309-z
View article: Thalamic Tremor Following Focused Ultrasound Thalamotomy for the Treatment of Essential Tremor
Thalamic Tremor Following Focused Ultrasound Thalamotomy for the Treatment of Essential Tremor Open
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View article: Management of Anterocapitis and Anterocollis: A Novel Ultrasound Guided Approach Combined with Electromyography for Botulinum Toxin Injection of Longus Colli and Longus Capitis
Management of Anterocapitis and Anterocollis: A Novel Ultrasound Guided Approach Combined with Electromyography for Botulinum Toxin Injection of Longus Colli and Longus Capitis Open
Chemodenervation of cervical musculature using botulinum neurotoxin (BoNT) is established as the gold standard or treatment of choice for management of Cervical Dystonia (CD). The success of BoNT procedures is measured by improved symptomo…
View article: Large-scale pathway specific polygenic risk and transcriptomic community network analysis identifies novel functional pathways in Parkinson disease
Large-scale pathway specific polygenic risk and transcriptomic community network analysis identifies novel functional pathways in Parkinson disease Open
Polygenic inheritance plays a central role in Parkinson disease (PD). A priority in elucidating PD etiology lies in defining the biological basis of genetic risk. Unraveling how risk leads to disruption will yield disease-modifying therape…
View article: Large-scale pathway-specific polygenic risk, transcriptomic community networks and functional inferences in Parkinson disease
Large-scale pathway-specific polygenic risk, transcriptomic community networks and functional inferences in Parkinson disease Open
Polygenic inheritance plays a central role in Parkinson disease (PD). A priority in elucidating PD etiology lies in defining the biological basis of genetic risk. Unraveling how risk leads to disruption will yield disease-modifying therape…
View article: Faculty Opinions recommendation of The functional role of thalamocortical coupling in the human motor network.
Faculty Opinions recommendation of The functional role of thalamocortical coupling in the human motor network. Open
The amplitude of high broadband activity in human cortical field potentials indicates local processing and has repeatedly been shown to reflect motor control in the primary motor cortex.In a group of male and female subjects affected by es…