Publications by authors named "P Oflazer"
The gold standard for facioscapulohumeral muscular dystrophy (FSHD) genetic diagnostic procedures was published in 2012. With the increasing complexity of the genetics of FSHD1 and 2, the increase of genetic testing centers, and the start of clinical trials for FSHD, it is crucial to provide an update on our knowledge of the genetic features of the FSHD loci and renew the international consensus on the molecular testing recommendations. To this end, members of the FSHD European Trial Network summarized the evidence presented during the 2022 ENMC meeting on Genetic diagnosis, clinical outcome measures, and biomarkers.
View Article and Find Full Text PDFRecurrent mutation in confirms dysregulated sphingolipid production to cause juvenile amyotrophic lateral sclerosis.
J Neurol Neurosurg Psychiatry
February 2024
Background: Amyotrophic lateral sclerosis (ALS) leads to paralysis and death by progressive degeneration of motor neurons. Recently, specific mutations in were identified in patients with juvenile form of ALS encodes the second catalytic subunit of the serine-palmitoyltransferase (SPT) complex.
Methods: We used the GENESIS platform to screen 700 ALS whole-genome and whole-exome data sets for variants in .
Article Synopsis
- - Emery-Dreifuss muscular dystrophy (EDMD) is a rare genetic disorder that typically appears in childhood and is characterized by early contractures, progressive muscle weakness, and serious heart issues.
- - A study evaluated 32 EDMD patients from 14 families in Istanbul, finding that the majority had EDMD1 (58%), while others had EDMD2 (21%) and EDMD3 (7%), with genetic testing confirming a diagnosis in 86% of classical cases.
- - The research identified three new pathogenic variants related to EDMD and highlights its significance as the largest Turkish cohort, enhancing understanding and genetic testing for the condition in Turkey.
Background: The patients with neuromuscular diseases (NMD) are very fragile and it is hard to evaluate respiratory involvement of the primary disease in this group. Therefore, our study aimed to reveal the relationship between pulmonary function tests (PFT) and impulse oscillometry (IOS) and their correlation with respiratory clinical findings in NMD.
Material And Methods: A total of 86 consecutive patients with NMD were included.