Sweat gland duct cells in Lafora disease

No abstract is available for this paper.

• Publication year

  1981

• Venue

  Neurology

• Publication date

  1981-12-01

• Fields of study

  Medicine

• Identifiers
  DOI 10.1212/WNL.31.12.1564PMID 6796905
• External record

  Open on Semantic Scholar

• Source metadata

  Semantic Scholar, PubMed

• No claims are published for this paper.

• No concepts are published for this paper.

• Lafora disease: Diagnosis by liver biopsy

  1980cited by this paper
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  1980cited by this paper
• Penicillamine‐induced myasthenic responses in the guinea pig

  1979cited by this paper
• Lafora's disease; diagnosis by liver biopsy.

  1979cited by this paper
• Effects of D‐penicillamine on neuromuscular transmission in rats

  1979cited by this paper
• Morphological study of skin biopsy specimens: a contribution to the diagnosis of metabolic disorders with involvement of the nervous system.

  1978cited by this paper
• Lafora's disease. An ultrastructural and histochemical study.

  1974cited by this paper
• Studies in myoclonus epilepsy. (Lafora body form). IV. Skeletal muscle abnormalities.

  1974cited by this paper
• Lafora's disease

  1974cited by this paper
• Infantile myotonic dystrophy

  1973cited by this paper
• Specific involvement of muscle, nerve, and skin in late infantile and juvenile amaurotic idiocy

  1972cited by this paper
• Myoclonic epilepsy with lafora bodies. Some ultrastructural, histochemical, and biochemical aspects.

  1971cited by this paper
• Curare sensitivity and myastheniform symptoms in patients with rheumatoid arthritis.

  1969cited by this paper
• Ultrastructure of Normal and Abnormal Skin

  1967cited by this paper

• Case report of Lafora disease: a rare genetic disorder manifesting as progressive myoclonic epilepsy

  2025cites this paper
• Myofiber-type-dependent ‘boulder’ or ‘multitudinous pebble’ formations across distinct amylopectinoses

  2024cites this paper
• Lafora progressive myoclonus epilepsy: Disease mechanism and therapeutic attempts

  2024cites this paper
• Lafora disease presented with multiple seizure

  2023cites this paper
• International League Against Epilepsy classification and definition of epilepsy syndromes with onset at a variable age: position statement by the ILAE Task Force on Nosology and Definitions

  2022cites this paper
• Utilization of skin biopsy for diagnosis in a case of Lafora disease

  2022cites this paper
• [Lafora disease: a review of the literature].

  2019influential citation
• Enfermedad de Lafora: revisión de la bibliografía

  2019influential citation
• Overview of axillary dermatoses: case series in a tertiary care institution

  2019cites this paper
• Progressive Myoclonic Epilepsy: Review Article with A Case Report of Lafora Disease

  2018cites this paper
• Lafora Disease Masquerading as Hepatic Dysfunction

  2018cites this paper
• Pathogenesis of Lafora Disease: Transition of Soluble Glycogen to Insoluble Polyglucosan

  2017cites this paper
• Diagnosis of Lafora Disease by Skin Biopsy.

  2017cites this paper
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  2017cites this paper
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  2016cites this paper
• Lafora Body Disease: A Rare Type of Progressive Myoclonic Epilepsy

  2016cites this paper
• Writeclick: Neuropsychological outcome after deep brain stimulation for Parkinson disease

  2016cites this paper
• Single Gene Generalized Epilepsy in Africa

  2015cites this paper
• Epilepsia mioclónica progresiva tipo Lafora y los casos diagnosticados en Costa Rica

  2014cites this paper
• [Normal skin biopsy as a tool for extra-cutaneous disorders].

  2014cites this paper
• Indications extra-cutanées de la biopsie de peau normale

  2014cites this paper
• Hydrogen/deuterium exchange mass spectrometry (DXMS) analysis of the human carbohydrate phosphatase, laforin

  2013cites this paper
• UNIVERSITY OF CALIFORNIA, SAN DIEGO

  2013cites this paper
• INVESTIGATING THERAPEUTIC OPTIONS FOR LAFORA DISEASE USING STRUCTURAL BIOLOGY AND TRANSLATIONAL METHODS

  2013cites this paper
• [Lafora disease: histopathological study of axillary cutaneous biopsy].

  2013cites this paper
• Neuronatin-mediated Aberrant Calcium Signaling and Endoplasmic Reticulum Stress Underlie Neuropathology in Lafora Disease*

  2013cites this paper
• Disease Stress Underlie Neuropathology in Lafora Signaling and Endoplasmic Reticulum Neuronatin-mediated Aberrant Calcium Neurobiology :

  2013cites this paper
• Diagnostic opportunities based on skin biomarkers.

  2013cites this paper
• Brain pathology of Lafora disease : fine structural changes of Lafora (polyglucosan) bodies in the developing phase of the formation

  2012cites this paper
• Early-onset Lafora body disease.

  2012cites this paper
• Lafora hastalığı: ilerleyici bir miyoklonik epilepsi

  2011cites this paper
• Lafora disease ubiquitin ligase malin promotes proteasomal degradation of neuronatin and regulates glycogen synthesis.

  2011cites this paper
• 44. Disorders of Sweat Glands

  2010cites this paper
• Novel mutations in EPM2A and NHLRC1 widen the spectrum of Lafora disease

  2010cites this paper
• Utilizing Red Algae to Understand a Neurodegenerative Disease

  2010cites this paper
• Lafora disease

  2010cites this paper
• Sequestration of chaperones and proteasome into Lafora bodies and proteasomal dysfunction induced by Lafora disease-associated mutations of malin.

  2010cites this paper
• 18 – Metabolic and storage diseases

  2010cites this paper
• Role of levetiracetam in refractory seizures due to a rare progressive myoclonic epilepsy: Lafora body disease

  2010cites this paper
• Pathologic quiz case: myoclonic epilepsy and cognitive decline in a 19-year-old man.

  2009cites this paper
• Novel mutation in the NHLRC1 gene in a Malian family with a severe phenotype of Lafora disease

  2009cites this paper
• Chapter 84 – DIAGNOSTIC METHODS FOR DISORDERS OF THE CENTRAL NERVOUS SYSTEM

  2009cites this paper
• Familial adult myoclonus epilepsy : a clinical, neurophysiological and genetic study of a familial form of myoclonic epilepsy

  2009cites this paper
• Co-chaperone CHIP Stabilizes Aggregate-prone Malin, a Ubiquitin Ligase Mutated in Lafora Disease*

  2009cites this paper
• Lafora Disease and Congenital Generalized Lipodystrophy: A Case Report

  2009cites this paper
• Hydrogen/deuterium-exchange (DXMS) analysis of the carbohydrate phosphatase, starch-excess 4

  2008cites this paper
• Lafora Progressive Myoclonus Epilepsy: Disease Course Homogeneity in a Genetic Isolate

  2008cites this paper
• Disorders of Sweat Glands

  2008cites this paper
• BİR UNVERRİCHT LUNDBORG HASTALIĞI VAKASI A case of Unverricht Lundborg disease

  2008cites this paper
• The phosphatase laforin crosses evolutionary boundaries and links carbohydrate metabolism to neuronal disease

  2007cites this paper
• La maladie de Lafora (EPM2)

  2007cites this paper
• Lafora Body Disease : Report of Two Cases

  2007cites this paper
• [Lafora's disease (EPM2)].

  2007cites this paper
• Dodecamer Repeat Expansion in Progressive Myoclonus Epilepsy 1

  2006cites this paper
• Laforin, a Dual Specificity Phosphatase That Dephosphorylates Complex Carbohydrates*

  2006cites this paper
• Insights into Lafora disease: malin is an E3 ubiquitin ligase that ubiquitinates and promotes the degradation of laforin.

  2005cites this paper
• Progressive myoclonic epilepsies: a review of genetic and therapeutic aspects.

  2005cites this paper
• Progressive myoclonic epilepsy (Unverricht type) with atypical Lafora bodies

  2004cites this paper
• [Lafora's progressive myoclonus epilepsy and diagnosed cases in Costa Rica].

  2004cites this paper
• Polyglucosan bodies in intramuscular motor nerves

  2004cites this paper
• Glycogen and related polysaccharides inhibit the laforin dual-specificity protein phosphatase.

  2004cites this paper
• Occipital epilepsies: identification of specific and newly recognized syndromes 1 1 Edited by Hans E

  2003cites this paper
• Classification of the Myoclonic Epilepsies

  2003cites this paper
• Neurologic Aspects of 49,XXXXY Syndrome

  2003cites this paper
• [Non-convulsive epileptic status associated with Lafora disease: two case reports].

  2003cites this paper
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  2003cites this paper
• Unusual Presentation of Lafora's Disease

  2003cites this paper
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  2002cites this paper
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  2002cites this paper
• [Lafora disease. A new case of confirmation of diagnosis on molecular genetic studies].

  2002cites this paper
• Lafora's disease: towards a clinical, pathologic, and molecular synthesis.

  2001cites this paper
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  2001cites this paper
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  2001cites this paper
• [Lafora's disease: diagnosis by muscle biopsy (case report)].

  2000cites this paper
• Spinal schistosomiasis.

  2000cites this paper
• [Lafora's disease: diagnosis by muscle biopsy (case report)].

  2000cites this paper
• No induction of apoptosis by IFN-β in human antigen-specific T cells

  2000cites this paper
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  2000cites this paper
• [Lafora disease and founder effect in a small neotropical locality].

  2000cites this paper
• [Lafora's disease and movement disorders: report of 2 cases].

  2000cites this paper
• 進行性ミオクローヌスてんかんとその近縁疾患 : 病態と診断 : 遺伝子診断ならびに神経生理学的の最近の進歩を中心として

  1999cites this paper
• Three‐dimensional tracking of axonal projections in the brain by magnetic resonance imaging

  1999cites this paper
• Genetic locus heterogeneity in Lafora's progressive myoclonus epilepsy

  1999cites this paper
• An unusual case of Lafora body disease

  1999cites this paper
• Extracerebral biopsies in neurodegenerative diseases of childhood.

  1999cites this paper
• Corpora-amylacea and the family of polyglucosan diseases.

  1999cites this paper
• Lafora disease: diagnosis by skin biopsy.

  1999cites this paper
• Progressive Myoclonus Epilepsies

  1999cites this paper
• Mutations in a gene encoding a novel protein tyrosine phosphatase cause progressive myoclonus epilepsy

  1998cites this paper
• Nonneoplastic disorders of the eccrine glands.

  1998cites this paper
• [Diagnosis of metabolic diseases of the nervous system in children through ultrastructural analysis of non cerebral tissue].

  1998cites this paper
• Identification of a recombination event narrowing the Lafora disease gene region.

  1997cites this paper
• Role of electron microscopy in the diagnosis of metabolic storage diseases affecting the nervous system of children.

  1997cites this paper
• Identification ofa recombination eventnarrowing theLafora disease gene region

  1997cites this paper
• [Diagnosis of neurometabolic and neurodegenerative diseases by cutaneous biopsy].

  1997cites this paper
• Sweat gland vacuoles in Unverricht-Lundborg disease.

  1997cites this paper