Results 51 to 60 of about 1,154 (251)

[Physical study of big fragments and search strategy of genes. Application to locus of infant spinal muscular atrophies]

, 1994
Spinal muscular atrophies (SMA) represent the second most common fatal autosomal recessive disorder after cystic fibrosis. Childhood SMAs are divided into severe (type I) and mild forms (types II and III). By a combination of genetic and physical mapping,
Burglen, L, Benichou, B, Reboulet, S, Burlet, P, Zeviani, M, Le Paslier, D, Melki, J, Millasseau, P, Lefebvre, S, Clermont, O   +9 more
core  

Phenotypic Exploration in Patients with Heterozygous Variant in AFG3L2 Gene: A Case‐Series and Literature Review

Movement Disorders Clinical Practice, EarlyView.
Abstract Background Variants in AFG3‐Like Matrix AAA Peptidase, Subunit 2 (AFG3L2) gene are associated with diverse clinical phenotypes. Here, we describe phenotypic findings of two unrelated children with de novo heterozygous variant and one family with inherited heterozygous variant in AFG3L2 gene.
Sangeetha Yoganathan, Laura Tochen, Jacky Ganguly, Sayoni Roy Chowdhury, Haya S AlFaris, Vivek Pai, Andrea LeBlanc‐Millar, Sara Breitbart, Hrishikesh Kumar, Manohar Shroff, Arun Reginald, Grace Yoon, Alfonso Fasano, George M Ibrahim, Carolina Gorodetsky   +14 more
wiley   +1 more source

Data‐Driven Insights into Hyperkinetic Disorders in Neurodevelopmental Syndromes and Epileptic Encephalopathies

Movement Disorders Clinical Practice, EarlyView.
Abstract Background Childhood‐onset hyperkinetic movement disorders occur in a range of genetic conditions. Recently, there has been an increase in recognition of hyperkinetic movement disorders, mainly dystonia, chorea and dyskinesia, with monogenic conditions associated with neurodevelopmental delay (NDD) and also with developmental and epileptic ...
Hugo Morales‐Briceño, Shekeeb S. Mohammad, Rajeshwar Reddy Angiti, Velda Han, Michel Tchan, Russell C. Dale, Victor S.C. Fung   +6 more
wiley   +1 more source

Reachable Workspace as a Clinical Outcome for Upper Extremity Function: A Narrative Review

Muscle &Nerve, EarlyView.
ABSTRACT Motion sensing technology can be utilized to capture detailed upper extremity (UE) motion to reconstruct an individual's three‐dimensional (3D) reachable workspace (RWS). The RWS can be quantified as relative surface area (RSA), providing an innovative surrogate measure to assess UE mobility and function.
Jay J. Han, Lawrence J. Hayward, Christina Adams, Juan Perez‐Ibarra   +3 more
wiley   +1 more source

With Regard to the Expression Status of Sarcolemmal Aquaporin 4 in Human Muscular Dystrophies

Neurology and Clinical Neuroscience, EarlyView.
ABSTRACT Human muscular dystrophies are inherited muscle‐wasting diseases caused by the various kinds of gene mutations. Among them, Duchenne muscular dystrophy (DMD) is a representative type. Before the discovery of the causative dystrophin gene of DMD, the fragile myofiber plasma membrane was thought to be the trigger of myofiber necrosis in DMD ...
Yoshihiro Wakayama, Takahiro Jimi
wiley   +1 more source

Проксимальная спинальная мышечная атрофия типов I–IV: особенности молекулярно-генетической диагностики

, 2015
Proximal spinal muscular atrophy (SMA) types I-IV is the most common autosomal recessive neuromuscular disease caused by mutations in the SMN1 gene encoding the survival motor neuron protein.
В. В. Забненкова, Е. Л. Дадали, А. В. Поляков, A. V. Polyakov, E. L. Dadali, V. V. Zabnenkova   +5 more
core   +1 more source

Unveiling Saint Theobald: A Multidisciplinary Bioanthropological Investigation

International Journal of Osteoarchaeology, EarlyView.
ABSTRACT Saint Theobald of Provins (1033–1066), a French nobleman who embraced voluntary poverty, hermitism, and pilgrimage, represents an early figure in the medieval ascetic movement. He holds historical significance for the diffusion of 11th‐century ascetic ideals, as a hermit saint associated with the Camaldolese order and venerated across northern
Nicola Carrara, Cicero Moraes, Luca Bezzi, Alberto Zanatta, Luca Pagani, Gilberto Artioli, Cinzia Scaggion   +6 more
wiley   +1 more source

A Fisioterapia na Amiotrofia Espinhal Progressiva Tipo I: Uma Revisão de Literatura

, 2013
The spinal muscular atrophy type I is the most severe form of muscu­lar atrophies, starting at about six months of life, leading to death in childhood. Objective.
Jorge, Michele Gomes Andrade Vasconcellos, Carrapatoso, Beatriz Cantanhede, Fernandes, Alba Barros Souza   +2 more
core   +1 more source

Impact of Institutional Protocol on Urinary Catheter Outcome Measures in Orthopedic Children Treated With Epidural Analgesia

Pediatric Anesthesia, EarlyView.
ABSTRACT Background Epidural analgesia is commonly used for pain control after major lower‐limb orthopedic surgery in children, but it is associated with a risk of postoperative urinary retention. Consequently, urinary catheters are often placed and left in situ for the full duration of epidural analgesia, despite the potential risks of prolonged ...
Idan Katz, Tomer Talmy, Dor Barami, Tal S. Beckmann, Barry Danino, Yotam Lior, Margaret Ekstein   +6 more
wiley   +1 more source

Clinical Utility of Nuchal Translucency Measurement in First‐Trimester Ultrasound Screening in a Setting With First‐Tier NIPT for Aneuploidy Screening

Prenatal Diagnosis, EarlyView.
ABSTRACT Objective To investigate the additional clinical value of nuchal translucency (NT) measurement at the first‐trimester anomaly scan (FTAS) in a setting with first‐tier non‐invasive prenatal testing (NIPT). Method This nationwide prospective cohort study, part of the IMITAS study on FTAS implementation, included all pregnancies with increased NT
Eline E. R. Lust, Kim Bronsgeest, Lidewij Henneman, Neeltje M. T. H. Crombag, Caterina M. Bilardo, Robert‐Jan H. Galjaard, Esther Sikkel, Audrey B. C. Coumans, Ayten Elvan‐Taşpınar, Sander Galjaard, Attie T. J. I. Go, Gwendolyn T. R. Manten, Eva Pajkrt, Elisabeth van Leeuwen, Monique C. Haak, Mireille N. Bekker   +15 more
wiley   +1 more source