Search Results - "DANON, M"
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1
Enzyme replacement therapy in the mouse model of Pompe disease
Published in Molecular genetics and metabolism (01-09-2003)“…Deficiency of acid alpha-glucosidase (GAA) results in widespread cellular deposition of lysosomal glycogen manifesting as myopathy and cardiomyopathy. When…”
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2
McCune-Albright syndrome and disorders due to activating mutations of GNAS1
Published in Journal of pediatric endocrinology & metabolism : JPEM (2007)“…It has been more than seven decades since Drs. Fuller Albright and Donovan McCune published the first reports on individuals with McCune-Albright syndrome…”
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3
Myopathy with thick filament (myosin) loss following prolonged paralysis with vecuronium during steroid treatment
Published in Muscle & nerve (01-11-1991)“…A 20-year-old female hospitalized with status asthmaticus was treated with bronchodilators, antibiotics, and high-dose corticosteroids, and was paralyzed with…”
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4
Surprises of genetic engineering: A possible model of polyglucosan body disease
Published in Neurology (26-06-2001)“…The authors previously reported the generation of a knockout mouse model of Pompe disease caused by the inherited deficiency of lysosomal acid…”
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5
Clenbuterol reduces degeneration of exercised or aged dystrophic (mdx) muscle
Published in Muscle & nerve (01-04-2000)“…Evidence of dystrophic muscle degeneration in the hind limb muscles of young (20‐week‐old) treadmill‐exercised or aged (87‐week‐old) sedentary mdx mice was…”
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6
Mitochondrial myopathy of childhood associated with depletion of mitochondrial DNA
Published in Neurology (1992)“…We have studied five children with mitochondrial myopathy manifesting within or soon after the first year of life. Muscle biopsies showed ragged-red fibers and…”
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7
Early features of zidovudine-associated myopathy : histopathological findings and clinical correlations
Published in Acta neuropathologica (01-07-1995)“…Zidovudine-induced myopathy is characterized by reversible muscle weakness, wasting, myalgia, fatigue, and elevated creatine kinase (CK). Some…”
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8
Use of Ultrasonographic Guidance for Needle Localization of Osteoid Osteoma of the Capitate
Published in HSS journal (01-09-2006)Get full text
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9
Identification of coelomocyte unconventional myosin and its association with in vivo particle/vesicle motility
Published in Journal of cell science (01-08-1994)“…Sea urchin coelomocytes undergo an inducible structural transformation from petalloid to filopodial form during the 'clotting' response in sea urchins. Using a…”
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10
Sequential muscle biopsy changes in a case of congenital myopathy
Published in Muscle & nerve (01-05-1997)“…Muscle biopsies at age 7 months in a set of dizygotic male twins born floppy showed typical features of congenital fiber‐type disproportion (CFTD). One of the…”
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11
Investigation, Remediation and Cost Allocation of Contaminants from the Britannia Mine in British Columbia: A Case Study
Published in Environmental forensics (01-03-2002)“…This case study, from the province of British Columbia, is described to illustrate the use of environmental forensic techniques. The study involves acid rock…”
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12
Characterization of the enzymatic defect in late-onset muscle phosphofructokinase deficiency: new subtype of glycogen storage disease type VII
Published in The Journal of clinical investigation (01-11-1987)“…Human phosphofructokinase (PFK) exists in tetrameric isozymic forms, at least in vitro. Muscle and liver contain homotetramers M4 and L4, respectively, whereas…”
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13
Late-onset muscle phosphofructokinase deficiency
Published in Neurology (01-06-1988)“…A 75-year-old man had a 10-year history of slowly progressive limb weakness without cramps or myoglobinuria. Clinical, morphologic, and biochemical studies…”
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14
Muscle glycogen of steroid myopathy patients
Published in Journal of the neurological sciences (01-03-1996)Get full text
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15
Sarcoplasmic reticulum adenosine triphosphatase deficiency with probable autosomal dominant inheritance
Published in Neurology (01-05-1988)“…We report a family in which four members in two generations (mother, her son, and two daughters) suffered from impaired muscle relaxation aggravated by…”
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16
Muscle pain associated with tubular aggregates and structures resembling cylindrical spirals
Published in Muscle & nerve (01-04-1989)“…A 42-year-old man complained of muscle pain in the legs and episodes of left-sided limb weakness. Light microscopy of his quadriceps muscle showed abundant…”
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17
Inclusion body myositis associated with progressive dysphagia: treatment with cricopharyngeal myotomy
Published in Canadian journal of neurological sciences (01-11-1989)“…A 68-year-old man known to have inclusion body myositis underwent a cricopharyngeal myotomy in an attempt to improve his progressive dysphagia. Morphological…”
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18
Inclusion body myositis with cricopharyngeus muscle involvement and severe dysphagia
Published in Muscle & nerve (01-01-1992)Get more information
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19
Heterotopic neogenesis of skeletal muscle induced in the adult rat diaphragmatic peritoneum: ultrastructural and transplantation studies
Published in Histology and histopathology (01-10-1999)“…During the course of a mild chemical peritonitis, new skeletal muscle fibers develop and persist over a twelve-month interval in the diaphragmatic peritoneum…”
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20
Tubular aggregates: their association with myalgia
Published in Journal of neurology, neurosurgery and psychiatry (01-09-1985)“…Three thousand consecutive muscle biopsies were reviewed for the presence of tubular aggregates and their association with clinical symptomatology. Tubular…”
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