scholarly article | Q13442814 |
P356 | DOI | 10.1002/AJMG.A.35268 |
P698 | PubMed publication ID | 22419508 |
P50 | author | Tae-Joon Cho | Q42525604 |
P2093 | author name string | Shiro Ikegawa | |
Yuji Tanaka | |||
Jin Dai | |||
Gen Nishimura | |||
Ekkehart Lausch | |||
Jong Hee Chae | |||
Kazu Matsumoto | |||
Katsuji Shimizu | |||
Won Joon Yoo | |||
Soledad Monges | |||
Yoshito Matsui | |||
Bernhard Zabel | |||
Ok-Hwa Kim | |||
Iori Takigami | |||
Virginia Fano | |||
P433 | issue | 4 | |
P921 | main subject | peripheral neuropathy | Q945238 |
P304 | page(s) | 795-802 | |
P577 | publication date | 2012-03-14 | |
P1433 | published in | American Journal of Medical Genetics | Q4744254 |
P1476 | title | TRPV4-pathy manifesting both skeletal dysplasia and peripheral neuropathy: a report of three patients | |
P478 | volume | 158A |
Q93089634 | Characteristic Diagnostic Clues of Metatropic Dysplasia: The Lumbothoracic Humpback with Dumbbell Appearance of the Long Bones |
Q63170642 | Charcot-Marie-Tooth disease type 2C and scapuloperoneal muscular atrophy overlap syndrome in a patient with the R232C TRPV4 mutation |
Q92698690 | Combined Phenotypes of Spondylometaphyseal Dysplasia-Kozlowski Type and Charcot-Marie-Tooth Disease Type 2C Secondary to a TRPV4 Pathogenic Variant |
Q35153852 | Exome Sequencing Identifies DYNC1H1 Variant Associated With Vertebral Abnormality and Spinal Muscular Atrophy With Lower Extremity Predominance |
Q64122769 | Homozygous mutation causes congenital distal spinal muscular atrophy and arthrogryposis |
Q36514432 | Human skeletal dysplasia caused by a constitutive activated transient receptor potential vanilloid 4 (TRPV4) cation channel mutation |
Q36738586 | Novel mutations highlight the key role of the ankyrin repeat domain in TRPV4-mediated neuropathy |
Q64043176 | Novel variant causes a severe form of metatropic dysplasia |
Q35680803 | Phenotypic variability of TRPV4 related neuropathies |
Q46537959 | SMD Kozlowski type caused by p.Arg594His substitution in TRPV4 reveals abnormal ossification and notochordal remnants in discs and vertebrae |
Q33355032 | The puzzle of TRPV4 channelopathies |
Q36584629 | Unraveling the mechanism by which TRPV4 mutations cause skeletal dysplasias |
Search more.