Nerve Biopsy Is Still Useful in Some Inherited Neuropathies.

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Nerve Biopsy Is Still Useful in Some Inherited Neuropathies.

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2017 nî lūn-bûn

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2017年の論文

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2017年学术文章

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2017年学术文章

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2017年学术文章

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2017年学术文章

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2017年学术文章

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2017年學術文章

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Nerve Biopsy Is Still Useful in Some Inherited Neuropathies.

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Nerve Biopsy Is Still Useful in Some Inherited Neuropathies.

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Nerve Biopsy Is Still Useful in Some Inherited Neuropathies.

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Nerve Biopsy Is Still Useful in Some Inherited Neuropathies.

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Nerve Biopsy Is Still Useful in Some Inherited Neuropathies.

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Nerve Biopsy Is Still Useful in Some Inherited Neuropathies.

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P1476

Nerve Biopsy Is Still Useful in Some Inherited Neuropathies.

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P2093

Corinne Magdelaine

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Jean-Michel Vallat

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Laurence Richard

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Laurent Magy

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Mathilde Duchesne

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Meriem Tazir

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Sonia Nouioua

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Stéphane Mathis

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P2860

Mapping of a new locus for autosomal recessive demyelinating Charcot-Marie-Tooth disease to 19q13.1-13.3 in a large consanguineous Lebanese family: exclusion of MAG as a candidate gene.

SH3TC2/KIAA1985 protein is required for proper myelination and the integrity of the node of Ranvier in the peripheral nervous system

A structured approach to the assessment of a floppy neonate

Absence of Dystrophin Related Protein-2 disrupts Cajal bands in a patient with Charcot-Marie-Tooth disease.

Crystal structure of the extracellular domain of human myelin protein zero

Human laminopathies: nuclei gone genetically awry

Gene mapping in Gypsies identifies a novel demyelinating neuropathy on chromosome 8q24

Sh3tc2 deficiency affects neuregulin-1/ErbB signaling

Mfn2 modulates the UPR and mitochondrial function via repression of PERK

Missense mutations in the SH3TC2 protein causing Charcot-Marie-Tooth disease type 4C affect its localization in the plasma membrane and endocytic pathway.

P31

scholarly article

P356

10.1093/JNEN/NLX111

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P50

Philippe Corcia

P577

2017-12-29T00:00:00Z

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P698

29300988

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