Mitochondrial abnormalities in oculopharyngeal muscular dystrophy

Seizures in E200K familial and sporadic Creutzfeldt-Jakob disease.

Acta neurologica Scandinavica·2014

Clinical and electroencephalographic findings in acutely ill adults with non-convulsive vs convulsive status epilepticus.

Acta neurologica Scandinavica·2014

Neonatal vocal cord paralysis-an early presentation of hereditary neuralgic amyotrophy due to a mutation in the SEPT9 gene.

European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society·2012

Familial Mediterranean FeVer gene (MEFV) mutations as a modifier of systemic lupus erythematosus.

Lupus·2012

Outcome of lamotrigine treatment in juvenile myoclonic epilepsy.

Acta neurologica Scandinavica·2011

Epilepsy syndrome-associated balance dysfunction assessed by static posturography.

Seizure·2010

"Abductor Sparing": A New Selective Involvement in ALS.

Muscle & nerve·2026

Enabling Functional Independence: A Scoping Review of Upper Extremity Assistive Devices for Adults With Progressive Neuromuscular Diseases.

Muscle & nerve·2026

Imaging of Facial Muscles in Facioscapulohumeral Muscular Dystrophy: An Exploratory Study Comparing Magnetic Resonance Imaging and Ultrasound.

Muscle & nerve·2026

Quantitative Assessment of Tongue Atrophy in Amyotrophic Lateral Sclerosis Using Transoral Tongue Ultrasonography (TOTU): A Retrospective Single-Center Study.

Muscle & nerve·2026

Sensory Cortical Hyperexcitability in Amyotrophic Lateral Sclerosis Involves a Broad Hand Representation Within the Primary Somatosensory Cortex.

Muscle & nerve·2026

Addressing the Global Disparities in Access to Treatment in Spinal Muscular Atrophy.

Muscle & nerve·2026

Smarcc1 drives optic stalk patterning and optic nerve head astrocyte differentiation.

Development (Cambridge, England)·2026

Ozone Therapy as a Redox-Modulating Strategy in Degenerative Musculoskeletal Diseases: A Clinical-Mechanistic Review.

Journal of clinical medicine·2026

From PLP1 Misfolding to Oligodendrocyte Degeneration: A Proteostasis-Centered Framework for Pelizaeus-Merzbacher Disease.

Cells·2026

Novel Case of Bilateral Posterior Semicircular Canal Benign Paroxysmal Positional Vertigo with Asymmetric Mechanisms: Left Cupulolithiasis and Right Short-Arm Canalolithiasis.

Iranian journal of otorhinolaryngology·2026

Impact of Human Melanopsin Gene (OPN4) Polymorphisms (I394T, P10L) on Nocturnal Melatonin and Daily Rhythms in Young Adults.

Journal of pineal research·2026

Extensive orbital invasion by conjunctival squamous cell carcinoma in an anophthalmic socket: a case report.

Digital journal of ophthalmology : DJO·2026

Related Experiment Videos

Mitochondrial abnormalities in oculopharyngeal muscular dystrophy

Related Concept Videos

Seizures in E200K familial and sporadic Creutzfeldt-Jakob disease.

Clinical and electroencephalographic findings in acutely ill adults with non-convulsive vs convulsive status epilepticus.

Neonatal vocal cord paralysis-an early presentation of hereditary neuralgic amyotrophy due to a mutation in the SEPT9 gene.

Familial Mediterranean FeVer gene (MEFV) mutations as a modifier of systemic lupus erythematosus.

Outcome of lamotrigine treatment in juvenile myoclonic epilepsy.

Epilepsy syndrome-associated balance dysfunction assessed by static posturography.

"Abductor Sparing": A New Selective Involvement in ALS.

Enabling Functional Independence: A Scoping Review of Upper Extremity Assistive Devices for Adults With Progressive Neuromuscular Diseases.

Imaging of Facial Muscles in Facioscapulohumeral Muscular Dystrophy: An Exploratory Study Comparing Magnetic Resonance Imaging and Ultrasound.

Quantitative Assessment of Tongue Atrophy in Amyotrophic Lateral Sclerosis Using Transoral Tongue Ultrasonography (TOTU): A Retrospective Single-Center Study.

Sensory Cortical Hyperexcitability in Amyotrophic Lateral Sclerosis Involves a Broad Hand Representation Within the Primary Somatosensory Cortex.

Addressing the Global Disparities in Access to Treatment in Spinal Muscular Atrophy.

Smarcc1 drives optic stalk patterning and optic nerve head astrocyte differentiation.

Ozone Therapy as a Redox-Modulating Strategy in Degenerative Musculoskeletal Diseases: A Clinical-Mechanistic Review.

From PLP1 Misfolding to Oligodendrocyte Degeneration: A Proteostasis-Centered Framework for Pelizaeus-Merzbacher Disease.

Novel Case of Bilateral Posterior Semicircular Canal Benign Paroxysmal Positional Vertigo with Asymmetric Mechanisms: Left Cupulolithiasis and Right Short-Arm Canalolithiasis.

Impact of Human Melanopsin Gene (OPN4) Polymorphisms (I394T, P10L) on Nocturnal Melatonin and Daily Rhythms in Young Adults.

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Mitochondrial abnormalities in oculopharyngeal muscular dystrophy

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