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The phenotypic and molecular spectrum of PEHO syndrome and PEHO-like disorders.

作者信息

Salpietro Vincenzo, Zollo Massimo, Vandrovcova Jana, Ryten Mina, Botia Juan A, Ferrucci Veronica, Manole Andreea, Efthymiou Stephanie, Al Mutairi Fuad, Bertini Enrico, Tartaglia Marco, Houlden Henry

机构信息

Department of Molecular Neuroscience, Institute of Neurology, UCL Institute of Neurology, London WC1N 3BG, UK.

Department of Molecular Medicine and Medical Biotechnologies "DMMBM", University of Naples "Federico II", Naples 80131, Italy.

出版信息

Brain. 2017 Aug 1;140(8):e49. doi: 10.1093/brain/awx155.

DOI:10.1093/brain/awx155
PMID:28899015
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC5806505/
Abstract
摘要
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/826d/5806505/d6baee215230/awx155f2.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/826d/5806505/3424da1a1c00/awx155f1.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/826d/5806505/d6baee215230/awx155f2.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/826d/5806505/3424da1a1c00/awx155f1.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/826d/5806505/d6baee215230/awx155f2.jpg

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Brain. 2017 Apr 1;140(4):940-952. doi: 10.1093/brain/awx014.
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Genome-Wide Meta-Analysis of Sciatica in Finnish Population.
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Front Pediatr. 2023 Dec 15;11:1301166. doi: 10.3389/fped.2023.1301166. eCollection 2023.
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The Cardiofaciocutaneous Syndrome: From Genetics to Prognostic-Therapeutic Implications.心面皮肤综合征：从遗传学角度到预后治疗意义。
Genes (Basel). 2023 Nov 22;14(12):2111. doi: 10.3390/genes14122111.
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The therapeutic effects of physical treatment for patients with hereditary spastic paraplegia: a narrative review.物理治疗对遗传性痉挛性截瘫患者的治疗效果：一项叙述性综述。
Front Neurol. 2023 Nov 29;14:1292527. doi: 10.3389/fneur.2023.1292527. eCollection 2023.
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