Results 111 to 120 of about 164,048 (382)

Severe congenital microcephaly with AP4M1 mutation, a case report [PDF]

, 2017
Background: Autosomal recessive defects of either the B1, E1, M1 or S1 subunit of the Adaptor Protein complex-4 (AP4) are characterized by developmental delay, severe intellectual disability, spasticity, and occasionally mild to moderate microcephaly of ...
Abramowicz, Marc, David, Philippe, Desmyter, Laurence, Duerinckx, Sarah, Perazzolo, Camille, Pirson, Isabelle, Verhelst, Helene   +6 more
core   +2 more sources

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

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

Spectrum of topics for world congresses and other activities of the International Society for Physical and Rehabilitation Medicine (ISPRM) : a first proposal [PDF]

, 2013
Background: One of the objectives of the International Society for Physical and Rehabilitation Medicine is to improve the continuity of World Congresses.
Fialka-Moser, Veronika, Gutenbrunner, Christoph, Guzman, Manuel, Imamura, Marta, Li, Jianan, Li, Leonard SW, Stucki, Gerold, Vanderstraeten, Guy, Ward, Anthony B   +8 more
core   +1 more source

Cleavage of Na+ channels by calpain increases persistent Na+ current and promotes spasticity after spinal cord injury

Nature Network Boston, 2016
Upregulation of the persistent sodium current (INaP) in motoneurons contributes to the development of spasticity after spinal cord injury (SCI). We investigated the mechanisms that regulate INaP and observed elevated expression of voltage-gated sodium ...
C. Brocard, Vanessa Plantier, P. Boulenguez, S. Liabeuf, Mouloud Bouhadfane, Annelise Viallat-Lieutaud, L. Vinay, F. Brocard   +7 more
semanticscholar   +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

Spasticity [PDF]

, 2019
This chapter reviews the aetiology, pathophysiology, assessment, and treatment of spasticity in adults and children. We present an overview of the medical management options as well as the multidisciplinary input and rehabilitation required. Surgical interventions are then outlined with more sections on neurosurgery, plastic surgery, and orthopaedic ...
John Goodden, Catherine Hernon, Brian Scott   +2 more
openaire   +2 more sources

Cuneiform Nucleus Stimulation Can Assist Gait Training to Promote Locomotor Recovery in Individuals With Incomplete Tetraplegia

Annals of Neurology, EarlyView.
Objective Impaired ability to induce stepping after incomplete spinal cord injury (SCI) can limit the efficacy of locomotor training, often leaving patients wheelchair‐bound. The cuneiform nucleus (CNF), a key mesencephalic locomotor control center, modulates the activity of spinal locomotor centers via the reticulospinal tract.
Anna‐Sophie Hofer, Lennart H. Stieglitz, Marc Bolliger, Linard Filli, Adrian Cathomen, Romina Willi, Irina Lerch, Iris Krüsi, Melina Giagiozis, Christian Meyer, Martin Schubert, Michèle Hubli, Thomas M. Kessler, László Demkó, Christian R. Baumann, Lukas Imbach, Markus F. Oertel, Andrea Prusse, Alina Kiseleva, Luca Regli, Martin E. Schwab, Armin Curt   +21 more
wiley   +1 more source

Modulation of Stretch Reflexes of the Finger Flexors by Sensory Feedback from the Proximal Upper Limb Poststroke [PDF]

, 2006
Neural coupling of proximal and distal upper limb segments may have functional implications in the recovery of hemiparesis after stroke. The goal of the present study was to investigate whether the stretch reflex response magnitude of spastic finger ...
Hoffmann, Gilles, Kahn, Jennifer H., Kamper, Derek G., Rymer, WIlliam Zev, Schmit, Brian D.   +4 more
core   +1 more source

Is two better than one? Muscle vibration plus robotic rehabilitation to improve upper limb spasticity and function: A pilot randomized controlled trial

PLoS ONE, 2017
Even though robotic rehabilitation is very useful to improve motor function, there is no conclusive evidence on its role in reducing post-stroke spasticity.
R. Calabró, A. Naro, M. Russo, D. Milardi, A. Leo, S. Filoni, Antonia Trinchera, P. Bramanti   +7 more
semanticscholar   +1 more source