Results 121 to 130 of about 233,409 (358)

Liveness‐Verified Dynamic Time Warping‐Based Authentication and Hybrid Adaptive Neuro‐Fuzzy Inference System Identification for Single‐Channel Diaphragmatic Breathing Surface Electromyography Biometrics

Advanced Intelligent Systems, EarlyView.
The first biometric framework to harness dynamic time warping (DTW) for single‐channel diaphragmatic surface electromyography authentication via post‐hoc alignment is presented. By optimally warping deep–normal–deep breath cycles, DTW achieves perfect genuine–impostor separation (equal error rates = 0%), while a parallel adaptive neuro‐fuzzy inference ...
Beyza Eraslan, Kutlucan Gorur, Feyzullah Temurtas   +2 more
wiley   +1 more source

Lysosomal dysfunction and overload of nucleosides in thymidine phosphorylase deficiency of MNGIE

Journal of Translational Medicine
Inherited deficiency of thymidine phosphorylase (TP), encoded by TYMP, leads to a rare disease with multiple mitochondrial DNA (mtDNA) abnormalities, mitochondrial neurogastrointestinal encephalomyopathy (MNGIE).
Jixiang Du, Fuchen Liu, Xihan Liu, Dandan Zhao, Dongdong Wang, Hongsheng Sun, Chuanzhu Yan, Yuying Zhao   +7 more
doaj   +1 more source

Challenges and Opportunities in Combining Ultrasound and Inductive Coupling for Energy Supply and Bidirectional Data Exchange in Bioelectronics Medicine Implant Networks

Advanced Intelligent Systems, EarlyView.
In this contribution, it is shown that miniaturized nerve stimulation implants can be used in collaborative networks. Inductive links and ultrasound are combined to supply these implants with energy and data; the advantages and disadvantages of each method, as well as safety risks and possibilities for improvement are discussed and the best ...
Benedikt Szabo, Jan Helmerich, Thomas Schaechtle, Ana Belen Amado‐Rey, Stefan Johann Rupitsch, Thomas Stieglitz   +5 more
wiley   +1 more source

The genes for two neuromuscular diseases of the mouse, ‘arrested development of righting response’, adr, and ‘myotonia’, mto, are allelic [PDF]

, 1988
Harald Jockusch, Kordula Bertram, Susanne Schenk   +2 more
openalex   +1 more source

Patient With Prolidase Deficiency due to an Homozygous PEPD Variant, Induced by Paternal Uniparental Isodisomy of Chromosome 19

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Uniparental disomy (UPD) is a rare phenomenon in which both copies of a chromosome are inherited from a single parent. This can lead to genomic imprinting disorders and recessive disorders due to the presence of recessive pathogenic variants in both alleles. Additionally, depending on the mechanisms by which UPD occurs, mosaic aneuploidies may
Marta Carreño‐Hidalgo, Raquel Muñoz‐Siles, Vanesa López‐González, Lidia Carreño‐Gago, Lluís Armengol Dulcet   +4 more
wiley   +1 more source

Severe Nerve Enlargement in SOS2‐Related Noonan Syndrome

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Noonan syndrome is a genetic multisystem congenital disorder, caused by pathogenic variants in genes that encode components of the RAS/MAPK signaling pathway. Pathogenic variants in SOS2 represent less than 2% of cases with NS. The phenotype includes a particularly high prevalence (65%) of lymphatic disease. Recently, severe nerve enlargements
Erika Leenders, Fieke Draaisma, Corrie E. Erasmus, Catelijne Coppens, Lotte E. R. Kleimeier, Melanie Burgers, Tuula Rinne, Martin Zenker, Laura Mazzanti, Wesley Reintjes, Nens van Alfen, Jos M. T. Draaisma   +11 more
wiley   +1 more source

Impact of liver-specific survival motor neuron (SMN) depletion on central nervous system and peripheral tissue pathology

eLife
Spinal muscular atrophy (SMA) is caused by mutations in the Survival Motor Neuron 1 (SMN1) gene. While traditionally viewed as a motor neuron disorder, there is involvement of various peripheral organs in SMA.
Monique Marylin Alves de Almeida, Yves De Repentigny, Sabrina Gagnon, Emma R Sutton, Rashmi Kothary   +4 more
doaj   +1 more source

The Expanding Clinical and Genetic Spectrum of Muscle Glycogen Storage Disease 0, (GSD0B)

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Glycogen storage disorders are a group of genetic disorders affecting glucose homeostasis in the body. Muscular glycogen stores are essential for liberating glucose for energy supply during bursts of activity and sustained muscle work. Muscle glycogen storage disease 0 (GSD0B) is associated with biallelic variants in GYS1 causing muscular ...
Sarah Donoghue, Smitha Kumble, Pontus Wasling, Lars Alberg, Pia Linton‐Dahlöf, Yilmaz Yildiz, İlker Ertuğrul, Terry Derks, Dwight Koeberl, Emmeline Lagrange, Sabrina Vergnaud, Lidia Pezzani, Maria Iascone, Zornitza Stark, Adam M. Bournazos, Sandra T. Cooper, Gittan Kollberg   +16 more
wiley   +1 more source

Molecular genetics of neurological and neuromuscular disease [PDF]

, 1988
S Bundey
openalex   +1 more source

Genome Sequencing Uncovers Additional Findings in Phelan‐McDermid Syndrome

American Journal of Medical Genetics Part B: Neuropsychiatric Genetics, EarlyView.
ABSTRACT Phelan‐McDermid syndrome (PMS) is a genetic condition caused by deletions of chromosome 22q13.3 or pathogenic variants in the SHANK3 gene. Neurologic features typically include intellectual disability, autism spectrum disorder, hypotonia, and absent speech, though there is considerable variability even among individuals with the same molecular
Rachel Gore Moses, Morgan Similuk, Alexandra Hehn, Rylee Duncan, Margaret Pekar, Eliza Gordon‐Lipkin, Maria T. Acosta, Deena Zeltser, Nadjalisse Reynolds‐Lallement, Latha Soorya, Mustafa Sahin, Tess Levy, Alexander Kolevzon, Joseph D. Buxbaum, Elizabeth Berry‐Kravis, Craig M. Powell, Jonathan A. Bernstein, Mari Tokita, Bryce A. Seifert, Rajarshi Ghosh, Magdalena A. Walkiewicz, Audrey Thurm   +21 more
wiley   +1 more source