Human head and neck Distal hereditary motor neuronopathies

Recurrent genetic findings among casesRecurrent genetic findings among cases
Infantile neuroaxonal dystrophy 1/Neurodegeneration with brain iron accumulation 2B. Distal hereditary motor neuronopathies
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Exome Sequencing and Gene Prioritization Correct Misdiagnosis in a Chinese Kindred with Familial Amyloid PolyneuropathyExome Sequencing and Gene Prioritization Correct Misdiagnosis in a Chinese Kindred with Familial Amyloid Polyneuropathy
Hui Chen1*, Xueya Zhou23*, Jing Wang4*, Xi Wang5, Liyang Liu2, Shinan Wu5, Tengyan Li5, Si Chen5, Jingwen Yang5, Pak Chung Sham3, Guangming Zhu1#, Xuegong Zhang2#, Binbin Wang5#. Distal hereditary motor neuronopathies
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Appendix e-1 Patients’ clinical reportsAppendix e-1 Patients’ clinical reports
Patients also presented with a late-onset progressive gait disorder initially due to pure motor involvement followed by proprioceptive ataxia and pyramidal syndrome in the absence of autonomic nervous system involvement. Distal hereditary motor neuronopathies
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\"Neuropathy\" is the medical term for any disorder affecting the nervous system; \"peripheral neuropathy\" is a general term for disorders affecting the peripheral nerves"Neuropathy" is the medical term for any disorder affecting the nervous system; "peripheral neuropathy" is a general term for disorders affecting the peripheral nerves
Axonopathy” is a disorder affecting the axons of peripheral nerves; the “axon” is the part of the nerve that carries impulses away from the nerve cell body and toward other nerves or toward muscles. Distal hereditary motor neuronopathies
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Supplemental Discussion Pairwise conservation analysis of the ugcaug elementSupplemental Discussion Pairwise conservation analysis of the ugcaug element
Supplemental Fig. S2B. Therefore, strong purifying selective pressure on the Fox-1/2 binding sites is manifested on a genomewide scale. Distal hereditary motor neuronopathies
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Supplementary Table Scopus electronic search term strategy and the number of relevant articles in the referencesSupplementary Table Scopus electronic search term strategy and the number of relevant articles in the references
Distal hereditary motor neuronopathies
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