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rabindra.tharu.np@gmail.com
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Prosthetic home intervention induces cortical plasticity in paediatrics with congenital limb reduction
Paediatrics with congenital upper-limb reduction deficiency often face difficulties with normal development such as motor skills, needing assistance with daily activities such as self-care limitations with certain movements, sports, or activities. The purpose of this non-randomized longitudinal controlled trial was to assess, using intent-to-treat analysis, the effects of an 8-week home intervention of prosthetic use…
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rabindra.tharu.np@gmail.com
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Pathologic RFC1 repeat expansions do not contribute to the development of inflammatory neuropathies
Biallelic expansions of the AAGGG repeat in the replication factor C subunit 1 () have recently been described to be responsible for cerebellar ataxia, peripheral neuropathy and vestibular areflexia syndrome. This genetic alteration has also allowed genetic classification in up to one-third of cases with idiopathic sensory neuropathy. Here, we screened a well-characterized cohort of…
