Results 41 to 50 of about 6,888,845 (215)

Vestibular impairment in Charcot–Marie–Tooth disease

Journal of Neurology, 2020
To find out if Charcot-Marie-Tooth (CMT) patients, who have peripheral vestibular as well as peripheral somatosensory impairment, have worse postural balance than those who do not.We studied 32 patients with various CMT phenotypes and genotypes. Vestibular function was measured with the video head impulse test (vHIT) which tests vestibulo-ocular reflex
Gülden Akdal, Koray Koçoğlu, Tural Tanrıverdizade, Elçin Bora, Fikret Bademkıran, Ayşe Nur Yüceyar, Özgül Ekmekçi, İhsan Şükrü Şengün, Hatice Karasoy   +8 more
openaire   +8 more sources

Early Clinical, Imaging, and Pathological Characteristics of SRPK3/TTN‐Digenic Myopathy

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective SRPK3/TTN‐digenic myopathy was recently established as a skeletal muscle myopathy caused by digenic inheritance. This study characterizes the early clinical presentation of SRPK3/TTN‐digenic myopathy in one previously reported and seven newly identified pediatric patients.
Rotem Orbach, Sandra Donkervoort, Carola Hedberg‐Oldfors, Giovanni Baranello, Dimah Saade, Precilla D'Souza, Ruchee Patel, Eva Michael, A. Reghan Foley, Diana Bharucha‐Goebel, S. Jin Haugland, Meghan McAnally, Omer Abdul Hamid, Katherine Chao, Ellen F. Macnamara, Alan H. Beggs, Anna Sarkozy, Juliane Mueller, Steven A. Moore, Richard S. Finkel, Cynthia J. Tifft, Francesco Muntoni, Anders Oldfors, Carsten G. Bönnemann   +23 more
wiley   +1 more source

Charcot-Marie-Tooth disease and rehabilitation: a perfect match [PDF]

, 2015
Reabilitação e doença de Charcot-Marie-Tooth: um casamento ...
Leite, Marco Antônio Araújo, Orsini, Marco, Ferreira, Arthur Sá, de Freitas, Marcos R. G., Teixeira, Silmar Silva, Bruno, Carlos, de Souza, Jano Alves, Bastos, Victor Hugo, de Menezes, Sara Lúcia Silveira   +8 more
core  

Bi‐ and Mono‐Allelic RFC1 Expansion in a North American Cohort With Idiopathic Axonal Neuropathy

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective RFC1 biallelic repeat expansion is increasingly recognized as a cause of chronic idiopathic axonal polyneuropathy (CIAP), but it remains challenging to know who to test. This study aims to determine the prevalence of biallelic and monoallelic RFC1 expansions and their corresponding neuropathy phenotypes in CIAP patients and identify ...
Amro M. Stino, Lavanya Muthukumar, Evan L. Reynolds, Peter Todd, Sinem Ovunc, Sheng Chih Jin, Zitian Tang, Simone Thomas, PNRR Study Group, Ahmet Höke, Brian C. Callaghan, Sarah Berth, Vinay Chaudhry, David Cornblath, Leana Doherty, Lindsey Hayes, Hristelina Ilieva, Thomas Lloyd, Mohammad Khoshnoodi, Brett McCray, Brett Morrison, Bipasha Mukherjee‐Clavin, Lyle Ostrow, Michael Polydefkis, Ricardo Roda, Charlotte Sumner   +25 more
wiley   +1 more source

ATL2 Recruits TRAK1 to Promote Mitochondrial Transport at ER–Mitochondria Contact Sites

Advanced Science, EarlyView.
ABSTRACT Mitochondrial transport and distribution are crucial for cellular homeostasis, yet whether and how they are regulated by endoplasmic reticulum (ER)–mitochondria contact sites remains unclear. Here, we demonstrate that the ER protein atlastin‐2 (ATL2) orchestrates mitochondrial transport and distribution by promoting assembly of the transport ...
Yiru Cheng, Peiyuan Chai, Xiayuhe Pei, Yiwen Chen, Xiaoshuai Huang, Bei Liu, Yiqian Wu, Junlin Teng, Pengli Zheng, Jianguo Chen   +9 more
wiley   +1 more source

Mutations in theMORC2gene cause axonal Charcot–Marie–Tooth disease [PDF]

, 2015
[EN] Charcot-Marie-Tooth disease (CMT) is a complex disorder with wide genetic heterogeneity. Here we present a new axonal Charcot-Marie-Tooth disease form, associated with the gene microrchidia family CW-type zinc finger 2 (MORC2).
Teresa Sevilla, Rafael Sivera, Francesc Palau, Sevilla, Teresa, María J. Chumillas, Dolores Martínez-Rubio, Mar García-Romero, Joaquín Dopazo, Paula Sancho, Palau, Francesc, Nuria Muelas, Muelas, Nuria, García-Romero, Mar, Pascual-Pascual, Samuel I., Vílchez, Juan J., Chumillas, María J., Dopazo, Joaquín, Samuel I. Pascual-Pascual, Sivera, Rafael, Juan J. Vílchez, Carmen Espinós, Sancho, Paula, Vincenzo Lupo, Lupo, Vincenzo, Martínez-Rubio, Dolores, Espinós-Armero, Carmen Ángeles   +25 more
core   +2 more sources

Noninvasive ventilation and laser-assisted unilateral posterior cordotomy as novel multidisciplinary approaches for Charcot–Marie–Tooth disease 4B vocal cord paralysis: a case report

Journal of Medical Case Reports
Background Charcot–Marie–Tooth disease (CMT) is one of the most common inherited neuropathies. The disease is generally characterized by sensory loss most prominent in distal extremities, muscle weakness, and muscle wasting.
Seyed Ahmad Tabatabaii, Joben Kianparsa, Mohammad Hossein Golkhani Zavareh, Abolfazl Khosravi, Amir Reza Bahadori, Nazanin Farahbakhsh   +5 more
doaj   +1 more source

High Diagnosis Rate for Nonimmune Hydrops Fetalis With Prenatal Clinical Genome: Expanded Results From the Hydrops‐Yielding Diagnostic Results of Prenatal Sequencing (HYDROPS) Study

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Nonimmune hydrops fetalis (NIHF) is characterized by abnormal fluid accumulation in ≥ 2 fetal compartments and may be genetic. The incremental diagnostic yield of prenatal exome sequencing (ES) for NIHF following a negative standard workup was previously explored on 22 cases.
Stephanie M. Rice, Mona M. Makhamreh, Sascha Wodoslawsky, Mariella Toro, Elizabeth Critchlow, Brandy Firman, Ruby Liu, Babi Ramesh Nallamilli, Madhuri Hegde, Seth I. Berger, Huda B. Al‐Kouatly   +10 more
wiley   +1 more source

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

Genetic Variants of Na+,K+‐ATPase Associated With Neurological Disorders: A Systematic Review

American Journal of Medical Genetics Part B: Neuropsychiatric Genetics, EarlyView.
ABSTRACT Neurological disorders encompass a wide range of severe symptoms and manifestations, many of which are associated with genetic variants that affect ionic homeostasis. Na+,K+‐ATPase, a transmembrane enzyme responsible for maintaining electrochemical gradients in cells, plays a crucial role in neuronal excitability and brain function.
Giovana Kummer da Rosa, Leandro Rodrigo Ribeiro, Jéssica Lorena Bariviera, Mauro Schneider Oliveira   +3 more
wiley   +1 more source