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Seminars in Neurology, 2019
AbstractThe inherited neuropathies are a common and heterogeneous group of slowly progressive disorders affecting motor, sensory, and autonomic nerves. These hereditary conditions can be confined to the peripheral nervous system, termed the primary hereditary neuropathies, or can occur as part of a multisystem disease.
Antonia S, Carroll +4 more
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AbstractThe inherited neuropathies are a common and heterogeneous group of slowly progressive disorders affecting motor, sensory, and autonomic nerves. These hereditary conditions can be confined to the peripheral nervous system, termed the primary hereditary neuropathies, or can occur as part of a multisystem disease.
Antonia S, Carroll +4 more
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Neurologic Clinics, 2002
Inherited neuropathies are common and are usually caused by mutations in genes that are expressed by myelinating Schwann cells or neurons, which is the biological basis for long-standing distinction between primary demyelinating and axonal neuropathies.
Kleopas A, Kleopa, Steven S, Scherer
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Inherited neuropathies are common and are usually caused by mutations in genes that are expressed by myelinating Schwann cells or neurons, which is the biological basis for long-standing distinction between primary demyelinating and axonal neuropathies.
Kleopas A, Kleopa, Steven S, Scherer
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2006
Genetic inheritance in higher organisms normally refers to the transmission of information from one generation to the next. Nevertheless, there is also inheritance in somatic cells, characterised by the phenotypic stability of differentiated cells that divide (such as fibroblasts and lymphocytes), and also mitosis of stem line cells, which gives rise ...
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Genetic inheritance in higher organisms normally refers to the transmission of information from one generation to the next. Nevertheless, there is also inheritance in somatic cells, characterised by the phenotypic stability of differentiated cells that divide (such as fibroblasts and lymphocytes), and also mitosis of stem line cells, which gives rise ...
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The inherited myotonias are a complex group of diseases caused by variations in genes that encode or modulate the expression of ion channels that regulate muscle excitability. These variations alter muscle membrane excitability allowing mild depolarization, causing myotonic discharges.
Karen, Suetterlin +2 more
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Karen, Suetterlin +2 more
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Seminars in Neurology, 2012
Inherited myelopathies are a small, but important subset of diseases that cause dysfunction of the spinal cord. Manifestations can include various combinations of signs and symptoms, including disturbance of gait, spasticity, paraplegia, amyotrophy, sensory loss, and urinary sphincter dysfunction. These diseases can be divided into classes that include
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Inherited myelopathies are a small, but important subset of diseases that cause dysfunction of the spinal cord. Manifestations can include various combinations of signs and symptoms, including disturbance of gait, spasticity, paraplegia, amyotrophy, sensory loss, and urinary sphincter dysfunction. These diseases can be divided into classes that include
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Clinical Neurology and Neurosurgery, 2013
Reinaldo Teixeira, Ribeiro +3 more
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Reinaldo Teixeira, Ribeiro +3 more
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