Results 81 to 90 of about 124,080 (339)

An ITPR1 Variant in the IP3‐ITPR1 Binding Pocket Associated With a Clinical Phenotype of Athetoid Cerebral Palsy

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT A de novo, missense variant in ITPR1‐inositol 1,4,5‐trisphosphate receptor type 1 (ITPR1), p.(Tyr567Cys), was identified by trio whole‐genome sequencing in an individual diagnosed with Spinocerebellar ataxia 29 (SCA29) who was affected by cerebral palsy and global developmental delay.
Thania Ordaz, Jagadish Chandrabose Sundaramurthi, Adam S. Arterbery, Anita M. Bagley, Michael A Gargano, Jeremy P Bauer, Daniel Danis, Philip Giampietro, Ellen Raney, Lauren Rekerle, Mallory Shingle, Jon R. Davids, Peter N. Robinson   +12 more
wiley   +1 more source

High prevalence of bronchiectasis is linked to HTLV-1-associated inflammatory disease. [PDF]

, 2015
BACKGROUND: Human T-lymphotropic virus type 1 (HTLV-1), a retrovirus, is the causative agent of HTLV-1-associated myelopathy/tropical spastic paraparesis (HAM/TSP) and adult T-cell leukaemia/lymphoma (ATLL).
A Gessain, A Gessain, AH Smith, AM Vine, CR Bangham, D Weycker, E Gotuzzo, EL Murphy, F Okada, Graham P Taylor, H Kawai, H Merle, H Nakamura, IARC Monographs on the Evaluation of Carcinogenic Risk to Humans, J Crofton, JR Orland, K Nishioka, L Einsiedel, L Einsiedel, L Einsiedel, L LaGrenade, M Nagai, M Nakagawa, M Osame, M Sugimoto, M Sugimoto, MA Demontis, MG Flynn, OS Morgan, PJ McShane, S Mita, S Mori, Shohreh Honarbakhsh, T Arakaki, T Kondo, T Matsuda, T Yamashiro, W Matsuyama   +37 more
core   +1 more source

An OGT Missense Variant With Impaired Enzyme Activity in a Child With Severe Developmental Delay and Hepatoblastoma

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT O‐GlcNAc transferase (OGT) and its antagonist O‐GlcNAcase (OGA) regulate protein O‐GlcNAcylation, a highly conserved post‐translational modification involved in metabolic sensing. Pathogenic variants in the OGT gene cause an X‐linked congenital disorder of glycosylation (OGT‐CDG) presenting developmental delay, hypotonia, intellectual ...
Alfonso Manuel D'Alessio, Huijie Yuan, Leandro Raul Soria, Sara Basse Hansen, Iolanda Boffa, Paola Arena, Benedetta Attianese, Maureen. O'Sullivan, Noelle Cullinan, Lewis Pang, Daan Marinus Ferdinand van Aalten, Nicola Brunetti‐Pierri, Sally Ann Lynch   +12 more
wiley   +1 more source

Microstructural analysis of skeletal muscle force generation during aging. [PDF]

, 2020
Human aging results in a progressive decline in the active force generation capability of skeletal muscle. While many factors related to the changes of morphological and structural properties in muscle fibers and the extracellular matrix (ECM) have been ...
Basava, Ramya R, Chen, Jiun-Shyan, He, Qizhi, He, Xiaolong, Hodgson, John, Sinha, Shantanu, Sinha, Usha, Zhang, Yantao   +7 more
core   +1 more source

A rare case of hereditary spastic paraplegia: Case report

Radiology Case Reports
Hereditary spastic paraplegias represent a rare set of monogenic disorders encompassing 79 distinct genetic variations. The principal culprit behind recessive hereditary spastic paraplegia is frequently attributed to mutations in the spastic paraplegia ...
Aymane Bijbij, MD, Adib Remmal, MD, Habib Bellamlih, PhD, Taoufik Africha, PhD, Soufiane Belabbes, Phd, Brahim Zainoun, PhD   +5 more
doaj   +1 more source

Evaluationof efficiency of methods of neuromodulation in the treatment of spastic syndromes in patients with spinal cord injury [PDF]

Саратовский научно-медицинский журнал, 2014
Objective: to evaluate the efficiency of the neuromodulation methods and to determine their role in complex rehabilitation of patients with spastic syndromes after spinal cord injury. Material and methods: Based on the study and treatment of 105 patients
Smolkin А.А., Ninel V.G., Korshunova G.A.   +2 more
doaj  

Non‐RASopathy Genetic Syndromes Identified as the Molecular Cause of Disease in Patients Previously Diagnosed With Noonan Syndrome

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Noonan Syndrome (NS) is a clinically and genetically heterogeneous condition characterized by typical facial dysmorphisms, short stature, congenital heart defects, and developmental delays. While variants in genes such as PTPN11, SOS1, and RAF1 account for most genetically confirmed cases, diagnosis is challenging due to phenotypic overlap ...
Gabriela Jeesoo Kim, Alexsandra Christianne Malaquias, Debora Romeo Bertola, Raissa Carneiro Rezende, Laurana De Polli Cellin, Lucas Vieira Lacerda Pires, Ana Maria Santillan‐Vasconez, Antônio Marcondes Lerario, Renata da Cunha Scalco, Alexander Augusto de Lima Jorge   +9 more
wiley   +1 more source

Ataxia in children: early recognition and clinical evaluation [PDF]

, 2017
Background: Ataxia is a sign of different disorders involving any level of the nervous system and consisting of impaired coordination of movement and balance.
Falsaperla, Raffaele, Lubrano, Riccardo, Pavone, Piero, Pavone, Vito, Praticò, Andrea D., Rizzo, Renata, Ruggieri, Martino   +6 more
core   +1 more source

Infantile‐Onset Ascending Hereditary Spastic Paraplegia due to a Homozygous ALS2 Exons 24–25 Deletion: Expanding the Genotypic Spectrum

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT We describe a novel homozygous intragenic deletion in the ALS2 gene in an 8‐year‐old boy with Infantile‐onset Ascending Hereditary Spastic Paraplegia (IAHSP) and oculomotor apraxia, thereby contributing to the expanding genetic landscape of ALS2‐related disorders.
Vito Luigi Colona, Maria Gnazzo, Silvia Genovese, Gessica Vasco, Lorena Travaglini, Maurizio Sabbadini, Marina Macchiaiolo, Francesco Nicita, Jacopo Sartorelli, Carmelo Piscopo, Enrico Castelli, Enrico Bertini, Andrea Bartuli, Antonio Novelli, Gessica Della Bella, Davide Vecchio   +15 more
wiley   +1 more source

Muscle Spasticity and Its Interaction with Myofascial System of Children with Central Paresis [PDF]

, 2019
Traditionally, the problem of muscle spasticity was considered by experts as a kind of local problem associated with the inhibition or traumatisation of the central motor neuron in a certain part of its path.
Moga, N. (Nikolay)
core   +3 more sources