Results 101 to 110 of about 47,101 (300)
PMP22 related neuropathies: Charcot-Marie-Tooth disease type 1A and Hereditary Neuropathy with liability to Pressure Palsies [PDF]
, 2008 PMP22 related neuropathies comprise (1) PMP22 duplications leading to Charcot-Marie-Tooth disease type 1A (CMT1A), (2) PMP22 deletions, leading to Hereditary Neuropathy with liability to Pressure Palsies (HNPP), and (3) PMP22 point mutations, causing ...
Barbara W van Paassen +5 more
core +9 more sources
The FEBS Journal, EarlyView.Myelin is a multilayered proteolipid membrane in the nervous system. The lipid membranes are held together by specific proteins, and here, we studied three such proteins—P0, MBP, and P2. Our experiments show that the three proteins may act in synergy at the molecular level, while they also compete for lipid membrane surface binding.
Oda C. Krokengen +9 more
wiley +1 more source
Hand Involvement in Charcot-Marie-Tooth Disease 1A
Pediatric Neurology Briefs, 2008 Hand strength, function and disease-related symptoms were determined in 84 children, aged 2-16 years, with Charcot-Marie-Tooth disease type 1A (CMT1A) at University of Sydney, Children’s Hospital at Westmead, and Royal Children’s Hospital, Parkville ...
J Gordon Millichap
doaj +1 more source
A meta-analysis of randomized double-blind clinical trials in CMT1A to assess the change from baseline in CMTNS and ONLS scales after one year of treatment [PDF]
, 2015 International audienceCMT1A is the most common inherited peripheral neuropathy. There is currently no approved treatment. We performed a meta-analysis including four randomized, double-blind, Placebo-controlled clinical trials to assess the disease ...
Attarian, Shahram +9 more
core +2 more sources
Journal of Paediatrics and Child Health, EarlyView.ABSTRACT Background Previous studies have investigated flattened foot arches associated with joint hypermobility using the Beighton scale. The absence of lower limb items below the knee in the Beighton scale questions the relevance of this relationship.
Carlos Martinez‐Sebastian +5 more
wiley +1 more source
POLG1 Mutations and Charcot-Marie-Tooth Disease
Pediatric Neurology Briefs, 2008 A 35-year-old man first diagnosed with autosomal recessive Charcot-Marie-Tooth disease type 2 at 22 years of age had an abnormal gait and pes cavus at age 10 years.
J Gordon Millichap
doaj +1 more source
Increasing the Discovery Power and Confidence Levels of Disease Association Studies: A Survey [PDF]
arXiv, 2017 The majority of common diseases are influenced by multiple genetic and environmental factors such as Cancer. Even though uncovering the main causes of disease is deemed difficult due to the complexity of gene-gene and gene-environment interactions, major research efforts aim at identifying disease risk factors, especially genetic ones.
arxiv
Pregnancy in Charcot-Marie-Tooth disease
Journal of Obstetrics and Gynaecology, 2006 A 22-year-old woman, known to have Charcot-Marie-Tooth (CMT) disease, was booked at 9 weeks of her first pregnancy. Her grandmother, mother and two brothers all had CMT disease.
A Basu, S Al-Shenar, S Ray
openaire +2 more sources
Experimental Physiology, EarlyView.Abstract We review our approach for undertaking microelectrode recordings from the posterior tibial nerve at the ankle, which has allowed us to identify, for the first time, the firing properties of muscle spindle endings in the intrinsic muscles of the foot and of cutaneous mechanoreceptors in the sole during unsupported standing.
Thomas P. Knellwolf +3 more
wiley +1 more source
The Turkish Journal of Pediatrics, 2019 We report a 14-month-old toddler admitted to the Pediatric Oncology Department after surgical resection of supratentorial anaplastic ependymoma. The child was treated with International Society of Pediatric Oncology Ependymoma II 2015 chemotherapy ...
Maria Gogou +6 more
doaj +1 more source