Autosomal-recessive complicated spastic paraplegia with a novel lysosomal trafficking regulator gene mutation.
about
Towards the targeted management of Chediak-Higashi syndromeDelving into the complexity of hereditary spastic paraplegias: how unexpected phenotypes and inheritance modes are revolutionizing their nosologyFamilial hemophagocytic lymphohistiocytosis: when rare diseases shed light on immune system functioning.Diagnosis, investigation and management of hereditary spastic paraplegias in the era of next-generation sequencing.Hereditary Spastic Paraplegia: Clinical and Genetic Hallmarks.Common genetic etiology between "multiple sclerosis-like" single-gene disorders and familial multiple sclerosis.JASPAC: Japan Spastic Paraplegia Research Consortium
P2860
Q26829320-759CBFC4-2D2C-4BE2-BC61-B796051EA8FFQ28081453-D49F1C66-6390-4708-ABDF-F2891B95A655Q37719014-0A54DBBE-3219-4308-918D-C8FC2CC5DBF5Q38283979-AE8BC217-3A2D-4933-98EE-B9E7A860B125Q38857876-65E107CF-B6C0-4A7A-88E3-EC89430CDDDBQ48366824-0E76E7F8-8E07-4F89-96FA-6C6499C2FCA5Q58784673-ED2F360B-038D-40BF-A4FB-F9468F5ED5EF
P2860
Autosomal-recessive complicated spastic paraplegia with a novel lysosomal trafficking regulator gene mutation.
description
2014 nî lūn-bûn
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2014年の論文
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2014年学术文章
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2014年学术文章
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2014年学术文章
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name
Autosomal-recessive complicate ...... cking regulator gene mutation.
@en
Autosomal-recessive complicate ...... cking regulator gene mutation.
@nl
type
label
Autosomal-recessive complicate ...... cking regulator gene mutation.
@en
Autosomal-recessive complicate ...... cking regulator gene mutation.
@nl
prefLabel
Autosomal-recessive complicate ...... cking regulator gene mutation.
@en
Autosomal-recessive complicate ...... cking regulator gene mutation.
@nl
P2093
P2860
P356
P1476
Autosomal-recessive complicate ...... cking regulator gene mutation.
@en
P2093
Hiroyuki Ishiura
Imaharu Nakano
Junko Honda
Kunihiro Yoshida
Masahide Yazaki
Michito Namekawa
Shoji Tsuji
Shu-ichi Ikeda
Tametou Naoi
P2860
P304
P356
10.1136/JNNP-2013-306981
P407
P577
2014-02-12T00:00:00Z