Mutations in MME cause an autosomal-recessive Charcot-Marie-Tooth disease type 2.
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Rare Variants in MME, Encoding Metalloprotease Neprilysin, Are Linked to Late-Onset Autosomal-Dominant Axonal PolyneuropathiesPhenotypes and cellular effects of GJB1 mutations causing CMT1X in a cohort of 226 Chinese CMT families.MME mutation in dominant spinocerebellar ataxia with neuropathy (SCA43).A genome-wide analysis in cluster headache points to neprilysin and PACAP receptor gene variantsJapan's initiative on rare and undiagnosed diseases (IRUD): towards an end to the diagnostic odyssey.Autopsy case of the C12orf65 mutation in a patient with signs of mitochondrial dysfunction.Clinical and mutational spectrum of Charcot-Marie-Tooth disease type 2Z caused by MORC2 variants in Japan.Recent advances in the genetic neuropathies.Towards a functional pathology of hereditary neuropathies.Long-term neprilysin inhibition - implications for ARNIs.Reasons Charcot-Marie-Tooth disease due to mutations in the MME gene should not be named AR-CMT2T.Clinical and genetic diversities of Charcot-Marie-Tooth disease with MFN2 mutations in a large case study.Clinical and mutational spectrum of Japanese patients with recessive variants in SH3TC2.Axonal Charcot-Marie-Tooth neuropathy concurrent with distal and proximal weakness by translational elongation of the 3' UTR in NEFH.A 1.35 Mb DNA fragment is inserted into the DHMN1 locus on chromosome 7q34-q36.2.Mutations in COA7 cause spinocerebellar ataxia with axonal neuropathy.Histopathological features of a patient with Charcot-Marie-Tooth disease type 2U/AD-CMTax-MARS.Clinical and mutational spectrum of Japanese patients with Charcot-Marie-Tooth disease caused by GDAP1 variants.Neprilysin Inhibitors and Bradykinin
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Mutations in MME cause an autosomal-recessive Charcot-Marie-Tooth disease type 2.
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article científic
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article scientifique
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articolo scientifico
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artigo científico
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bilimsel makale
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scientific article published on 17 March 2016
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vedecký článok
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vetenskaplig artikel
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videnskabelig artikel
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vědecký článek
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name
Mutations in MME cause an autosomal-recessive Charcot-Marie-Tooth disease type 2.
@en
Mutations in MME cause an autosomal-recessive Charcot-Marie-Tooth disease type 2.
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type
label
Mutations in MME cause an autosomal-recessive Charcot-Marie-Tooth disease type 2.
@en
Mutations in MME cause an autosomal-recessive Charcot-Marie-Tooth disease type 2.
@nl
prefLabel
Mutations in MME cause an autosomal-recessive Charcot-Marie-Tooth disease type 2.
@en
Mutations in MME cause an autosomal-recessive Charcot-Marie-Tooth disease type 2.
@nl
P2093
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P356
P1433
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Mutations in MME cause an autosomal-recessive Charcot-Marie-Tooth disease type 2.
@en
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Akihiro Hashiguchi
Akiko Yoshimura
Chiharu Kugimoto
Eiji Matsuura
Hajime Tanabe
Hayato Yabe
Hiroshi Takashima
Hiroyuki Ishiura
Jun Mitsui
Jun Yoshimura
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P304
P356
10.1002/ANA.24612
P577
2016-03-17T00:00:00Z