Results 71 to 80 of about 2,221 (162)

Inpatient Schema Therapy: Results of a Multiple Baseline Case Series Study

open access: yesClinical Psychology &Psychotherapy, Volume 33, Issue 1, January/February 2026.
ABSTRACT This study tested a 10‐week multidisciplinary schema therapy inpatient treatment protocol for patients with personality disorders, including two individual and two group sessions per week, supportive sessions with nurse cotherapists, as well as art, music, sports group and individual body therapy.
Matias Valente   +7 more
wiley   +1 more source

Full-length Dysferlin Transfer by the Hyperactive Sleeping Beauty Transposase Restores Dysferlin-deficient Muscle

open access: yesMolecular Therapy: Nucleic Acids, 2016
Dysferlin-deficient muscular dystrophy is a progressive disease characterized by muscle weakness and wasting for which there is no treatment. It is caused by mutations in DYSF, a large, multiexonic gene that forms a coding sequence of 6.2 kb.
Helena Escobar   +4 more
doaj   +1 more source

Brain of miyoshi myopathy/dysferlinopathy patients presents with structural and metabolic anomalies

open access: yesScientific Reports
Miyoshi myopathy/dysferlinopathy (MMD) is a rare muscle disease caused by DYSF gene mutations. Apart from skeletal muscles, DYSF is also expressed in the brain.
Petra Hnilicova   +16 more
doaj   +1 more source

A comparison of AAV strategies distinguishes overlapping vectors for efficient systemic delivery of the 6.2 kb Dysferlin coding sequence

open access: yesMolecular Therapy: Methods & Clinical Development, 2015
Recombinant adeno-associated virus (rAAV) is currently the best vector for gene delivery into the skeletal muscle. However, the 5-kb packaging size of this virus is a major obstacle for large gene transfer.
Marina Pryadkina   +6 more
doaj   +1 more source

Genetic and phenotypic characteristics of 3 patients with limb-girdle muscular dystrophy: experience in a medical center in Mexico

open access: yesEgyptian Journal of Medical Human Genetics
Introduction Limb-girdle muscular dystrophy (LGMD) is a heterogeneous group of genetically inherited muscular disorders. Due to the inherent phenotypic variation among different LGMD forms, clinical diagnosis remains challenging.
Valentina Martínez-Montoya   +4 more
doaj   +1 more source

Analysis on clinical phenotype and gene mutation of three cases of dysferlinopathy in two families

open access: yesChinese Journal of Contemporary Neurology and Neurosurgery, 2018
Objective To investigate clinical phenotype and gene mutation of dysferlinopathy. Methods The clinical manifestations, laboratory, imaging, neurophysiological examinations, myopathology and genetic test of 3 patients with dysferlinopathy in 2 Chinese ...
Hui-li ZHANG   +7 more
doaj   +1 more source

Nanodysferlins support membrane repair and binding to TRIM72/MG53 but do not localize to t-tubules or stabilize Ca2+ signaling

open access: yesMolecular Therapy: Methods & Clinical Development
Mutations in the DYSF gene, encoding the protein dysferlin, lead to several forms of muscular dystrophy. In healthy skeletal muscle, dysferlin concentrates in the transverse tubules and is involved in repairing the sarcolemma and stabilizing Ca2 ...
Joaquin Muriel   +10 more
doaj   +1 more source

The transcription factor Dysfusion promotes fold and joint morphogenesis through regulation of Rho1.

open access: yesPLoS Genetics, 2018
The mechanisms that control tissue patterning and cell behavior are extensively studied separately, but much less is known about how these two processes are coordinated.
Sergio Córdoba, Carlos Estella
doaj   +1 more source

Clinical description of a homozygous Lys 1169* variant in the DYSF gene associated with autosomal recessive Miyoshi muscular dystrophy type 1: A familial case report

open access: yesHeliyon
Miyoshi Muscular Dystrophy Type 1 is a rare autosomal recessive myopathy caused by mutations in the dysferlin (DYSF) gene. This disease presents with progressive distal lower limb weakness, such as gastrocnemius and soleus muscles resulting in difficulty
Alex S. Aguirre, Vanessa I. Romero
doaj   +1 more source

Exome sequencing identifies novel dysferlin mutation in a family with pauci-symptomatic heterozygous carriers

open access: yesBMC Medical Genetics, 2018
Background We investigated a South African family of admixed ancestry in which the first generation (G1) developed insidious progressive distal to proximal weakness in their twenties, while their offspring (G2) experienced severe unexpected symptoms of ...
Mahjoubeh Jalali-Sefid-Dashti   +3 more
doaj   +1 more source

Home - About - Disclaimer - Privacy