Results 91 to 100 of about 605,611 (288)

The role of experiential knowledge in the reproductive decision making of families genetically at risk : the case of spinal muscular atrophy [PDF]

This study reports on the analysis of 59 in-depth interviews conducted with people diagnosed with, or from families affected by, Spinal Muscular Atrophy (SMA).
Boardman, Felicity K.
core  

A Rare Form of Microcephalic Primordial Dwarfism due to NSMCE2 Deficiency (Seckel Syndrome Type 10): A Report of Macular Involvement

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Biallelic variants in NSMCE2 (MMS21), which encodes the SUMO E3 ligase subunit of the SMC5/6 chromatin‐maintenance complex, have recently been implicated in microcephalic primordial dwarfism (MPD), corresponding to Seckel syndrome type 10 (OMIM #617246).
Cristina Peduto, Céline Huber, Clément Paya, Isabelle Audo, Nathalie Boddaert, Valérie Cormier‐Daire   +5 more
wiley   +1 more source

Case Report: Atypical motor development in a patient with the mosaic form of Down syndrome and spinal muscular atrophy type 2- long-term observation

Frontiers in Genetics
A boy is presented in whom Down Syndrome mosaicism and spinal muscular atrophy by overlapping clinical symptoms delayed the diagnosis and caused complicated motor development.
Ewa Gajewska, Jędrzej Fliciński, Magdalena Sobieska, Joanna Michalska, Marcin Żarowski, Barbara Steinborn   +5 more
doaj   +1 more source

The EXPLAIN Study: Exploring Arthrogryposis Multiplex Congenita in Adults in Norway — A Description of Demographic, Medical, and Neurological Findings

American Journal of Medical Genetics Part C: Seminars in Medical Genetics, EarlyView.
ABSTRACT Arthrogryposis Multiplex Congenita (AMC) encompasses several hundred conditions with diverse genetic, pathophysiological, and clinical origins. The overarching EXPLAIN study explores underlying causes and implications of AMC and represents the largest clinical cohort of adults with AMC reported to date.
My Vuong Hermansen, Kristin Ørstavik, Unni Steen, Mathias Toft, Cathrine Brunborg, Lena Lande Wekre   +5 more
wiley   +1 more source

Rehabilitation management for patients with spinal muscular atrophy: a review

Orphanet Journal of Rare Diseases
The rehabilitation management of patients with spinal muscular atrophy is a complex, multidisciplinary process aimed at slowing disease progression, preventing complications, and enhancing patients’ quality of life.
Wei Song, Xiaohua Ke
doaj   +1 more source

Neurophysiological Recovery Following Nerve Transfer Surgery to Restore Upper Limb Function after Cervical Spinal Cord Injury

Annals of Neurology, EarlyView.
Objectives Nerve transfer is a promising intervention for restoring hand and upper limb function after cervical spinal cord injury (SCI), but the timeline of neurophysiological recovery in humans remains unclear. This study aimed to define recovery profiles after nerve transfers to restore upper limb function.
Kyle J. Missen, Justin M. Brown, Ross M. Mandeville, Harvey Wu, Sean Bristol, Peter K. Broadhurst, Erin Brown, Christopher Doherty, Amy K. Hanlan, Russell O'Connor, Lawrence R. Robinson, Kayton Rotenberg, J. Michael Hendry, Jana Dengler, Michael J. Berger   +14 more
wiley   +1 more source

Establishing Sensory Neurons as Therapeutic Targets in Peripheral Neuropathy Driven by Polyglutamine Expanded Murine ATXN3

Annals of Neurology, EarlyView.
Repeat expansion disorders frequently involve peripheral neuropathy, yet mechanisms remain unclear. Using a spinocerebellar ataxia type 3 (SCA3) Knock‐In Atxn3Q300/Q6, we identify progressive sensorimotor deficits, peripheral nerve pathology, and dorsal root ganglia RNA splicing dysregulation.
Juan P. Mato, John M. Hayes, Jacen Emerson, Maeha Sridharan, Toluwani Adelaja, Arsal Naeem, Alexandra F. Putka, Hayley S. McLoughlin   +7 more
wiley   +1 more source

Piezoelectric Nanocomposite Hydrogel for Wireless Neural Stimulation and Tissue Augmentation

Advanced NanoBiomed Research, EarlyView.
A cell/tissue supporting piezoelectric hydrogel system (PZ‐gel) that incorporates ferroelectric, pyroelectric, and piezoelectric ceramic material barium titanate into an alginate/carboxymethyl chitosan hydrogel. The PZ‐gel can be sonoactivated for wireless neural cell and tissue stimulation, with the potential to be used as a stimulatory cell substrate
Mohammad Mohammadi, Eva Tomaskovic‐Crook, Peter C. Innis, Jeremy M. Crook   +3 more
wiley   +1 more source

A Model for Spinal Muscular Atrophy Disease Registry for Iran [PDF]

Payesh
Objective(s): Spinal muscular atrophy is a rare genetic disease of neuromuscular and it is considered the main cause of death of newborns, which affects spinal motor neurons.
Hadiseh Azadi Cheshmekabodi, Farahnaz Sadoughi, Somayeh Nasiri   +2 more
doaj  

Spinal Muscular Atrophy Genotype Distribution.

, 2013
Spinal Muscular Atrophy Genotype Distribution.
Chih-Chao Yang (160072), Chien-Nan Lee (348009), Tai-Sheng Chang (355466), Chia-Cheng Hung (348005), Shin-Yu Lin (348006), Fang-Yi Chen (355463), Hung Li (110073), Jimmy P. S. Chern (355464), Chris Tsai (355465), Yi-Ning Su (130560), Hong-Nerng Ho (355467)   +10 more
core   +1 more source