Posts by: Jose Marques Lopes, PhD

News

Mutations in the MFN2 gene are associated with altered connections between mitochondria and another cellular structure called endoplasmic reticulum (ER). These correlate with Charcot–Marie–Tooth disease type 2A (CMT2A) severity, ... Read more

January 17, 2019January 17, 2019

MRI-based Technique Enables Early Diagnosis of Sciatic Nerve Damage in CMT1 Patients, Study Reports

News

A technique called diffusion tensor imaging (DTI) enables diagnosis of sciatic nerve damage in patients with Charcot-Marie-Tooth disease type 1 (CMT1). The study, “Diffusion tensor imaging of the sciatic ... Read more

October 17, 2018October 17, 2018

PXT3003 Eases Disability, Found Safe in CMT1A Patients, Phase 3 Trial Shows

News

Investigational compound PXT3003 consistently eased disability in patients with mild to moderate Charcot-Marie-Tooth disease type 1A (CMT1A), according to top-line Phase 3 results from Pharnext, which also found that the ... Read more

September 7, 2018September 7, 2018

Nerve Ultrasound Differentiates CMT1A From Other Subtypes, Study Suggests

News

Differences in high-resolution nerve ultrasound (HRUS) results could help distinguish patients with Charcot-Marie-Tooth disease type 1A (CMT1A) from those with other disease types characterized by the loss of myelin, ... Read more

August 1, 2018August 1, 2018

Specific Rehab Protocol Improves Hand Function in CMT Patients, Study Reports

News

A specific rehabilitation protocol improves hand function and is well-tolerated by patients with Charcot-Marie-Tooth disease, according to researchers. The study, “Hand Rehabilitation Treatment for Charcot-Marie-Tooth Disease: An Open Label ... Read more

July 18, 2018July 18, 2018

CMT1A Patients Show Hearing Problems in Noisy Background, Study Reports

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Patients with Charcot-Marie-Tooth type 1A (CMT1A) can have difficulty understanding speech in a noisy background, despite having a normal hearing test, according to a study. The study, “Hidden hearing ... Read more

June 8, 2018June 8, 2018

TRPV4 Channels, Strongly Linked to CMT2C, Seen to Regulate Structure and Function of Mitochondria in Study

News

TRPV4 channels, critical players in Charcot-Marie-Tooth disease type 2C (CMT2C), regulate the structure and function of mitochondria in diverse cell types, a new study shows. The study, “TRPV4 interacts ... Read more

May 30, 2018May 30, 2018

New Gene Mutation Found in Five Family Members with CMTX4, Case Report Shows

News

A new gene mutation was identified in five family members with X-linked Charcot-Marie-Tooth disease type 4 (CMTX4), a Chinese case report describes. The study, “A Novel AIFM1 Mutation in a ... Read more

May 18, 2018May 18, 2018

Study Reveals Key Sequences for Normal Expression of Critical Gene in CMT1A

News

Specific genetic sequences are critical for normal expression of Pmp22, the critical gene in Charcot-Marie-Tooth disease type 1A (CMT1A), a new study shows. The study, “Regulation of the neuropathy-associated ... Read more

May 14, 2018May 14, 2018

New Method to Assess Nerve Fiber Loss Seen to Accurately Measure CMT1 Disability

News

Researchers in France have found that a new technique to assess muscle electrical activity, called Motor Unit Number Index (MUNIX), correlates with clinical disability in Charcot-Marie-Tooth disease type 1 (CMT1) ... Read more

Posts by: Jose Marques Lopes, PhD

Jose Marques Lopes, PhD

Study of Altered Mitochondrial Connections Could Offer Insight About CMT2A Severity

MRI-based Technique Enables Early Diagnosis of Sciatic Nerve Damage in CMT1 Patients, Study Reports

PXT3003 Eases Disability, Found Safe in CMT1A Patients, Phase 3 Trial Shows

Nerve Ultrasound Differentiates CMT1A From Other Subtypes, Study Suggests

Specific Rehab Protocol Improves Hand Function in CMT Patients, Study Reports

CMT1A Patients Show Hearing Problems in Noisy Background, Study Reports

TRPV4 Channels, Strongly Linked to CMT2C, Seen to Regulate Structure and Function of Mitochondria in Study

New Gene Mutation Found in Five Family Members with CMTX4, Case Report Shows

Study Reveals Key Sequences for Normal Expression of Critical Gene in CMT1A

New Method to Assess Nerve Fiber Loss Seen to Accurately Measure CMT1 Disability

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