Results 111 to 120 of about 73,691 (271)

Recurrent Hypothermia and Autonomic Dysfunction Secondary to Shapiro Syndrome

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT A 44‐year‐old man presented with recurrent hypothermia, diaphoresis and hypertension. Extensive investigation for infectious, inflammatory, metabolic and endocrine aetiologies was negative. MR scan of the brain demonstrated no lesions but revealed callosal dysgenesis, consistent with Shapiro syndrome.
Naveen Kumar, Jeremy Johnson, Susanne Watkins, Eoin Mulroy   +3 more
wiley   +1 more source

Reduced white matter integrity and disrupted brain network in children with type 2 and 3 spinal muscular atrophy

Journal of Neurodevelopmental Disorders
Background Spinal muscular atrophy (SMA) is caused by reduced expression of survival motor neuron (SMN) protein. Previous studies indicated SMA causes not only lower motor neuron degeneration but also extensive brain involvement.
Huirong Nie, Shasha Lan, Huan Wang, Pei Xiang, Mengzhen Yan, Yang Fan, Wanqing Shen, Yijuan Li, Wen Tang, Zhiyun Yang, Yujian Liang, Yingqian Chen   +11 more
doaj   +1 more source

Brain magnetic resonance imaging of patients with spinal muscular atrophy type 2 and 3

NeuroImage: Clinical
Background and objective: Proximal spinal muscular atrophy (SMA) is caused by deficiency of the ubiquitously expressed survival motor neuron protein.
Marloes Stam, Harold H.G. Tan, Ruben Schmidt, Martijn P. van den Heuvel, Leonard H. van den Berg, Renske I. Wadman, W. Ludo van der Pol   +6 more
doaj   +1 more source

Disruption of snRNP biogenesis factors Tgs1 and pICln induces phenotypes that mirror aspects of SMN-Gemins complex perturbation in Drosophila, providing new insights into spinal muscular atrophy

Neurobiology of Disease, 2016
The neuromuscular disorder, spinal muscular atrophy (SMA), results from insufficient levels of the survival motor neuron (SMN) protein. Together with Gemins 2–8 and Unrip, SMN forms the large macromolecular SMN-Gemins complex, which is known to be ...
Rebecca M. Borg, Benji Fenech Salerno, Neville Vassallo, Rémy Bordonne, Ruben J. Cauchi   +4 more
doaj   +1 more source

Ultrastructural characterisation of a nuclear domain highly enriched in survival of motor neuron (SMN) protein

, 2004
Mutations in the survival of motor neuron (SMN) gene are the major cause of spinal muscular atrophy (SMA). The SMN gene encodes a 38-kDa protein that localises in the cytoplasm and in nuclear bodies termed Gemini of coiled bodies (gems).
Fakan S., Malatesta M., Buhler D., Plottner O., Fischer U., Sowa G., Keidel E., Meister G., Martin T. E., Scassellati C.   +9 more
core   +1 more source

Peripheral Neutrophil Activation and Extracellular Trap Formation in Amyotrophic Lateral Sclerosis

Annals of Clinical and Translational Neurology, EarlyView.
Markers of neutrophil activation are increased in plasma during ALS, and markers of NET formation associate with ALS survival. ABSTRACT Objectives Peripheral neutrophil levels in amyotrophic lateral sclerosis (ALS) inversely correlate with survival, suggesting a role for neutrophils in disease progression.
Lillia A. Baird, Haley McQuown, Jihyun Park, Samuel J. Teener, Ian F. Webber‐Davis, Andrew D. Carter, Dae‐Gyu Jang, Eva L. Feldman, Stephen A. Goutman, Benjamin J. Murdock   +9 more
wiley   +1 more source

Concomitant telomere attrition is associated with spinal muscular atrophy in highly inbred region of North India: unraveling the thread in Kashmir region

BMC Medical Genomics
Spinal muscular atrophy (SMA) is a rare genetic disorder that unequivocally results in the degeneration of motor neurons, leading to muscle weakness and atrophy.
Rukhsana Hassan, Gh Rasool Bhat, Feroze Ahmad Mir, Hilal Ahmad Ganie, Ifra Mushtaq, Mushtaq Ahmad Bhat, Ravouf Parvez Asimi, Dil Afroze   +7 more
doaj   +1 more source

Onasemnogene Abeparvovec in Patients With SMA: Interim Results of the RESTORE Registry in Japan

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective There are limited real‐world data regarding the safety and effectiveness of onasemnogene abeparvovec (OA; Zolgensma) infusion, a one‐time gene replacement therapy, for Japanese patients with spinal muscular atrophy (SMA). We aimed to improve understanding of the real‐world outcomes for OA in Japan.
Kayoko Saito, Kamal Benguerba, Ken Tsuchida, Kazushige Yazawa, Isao Tsumiyama, Hiromitsu Kayama, Sandra P. Reyna, Farid Khan, Richard S. Finkel   +8 more
wiley   +1 more source

Dissecting the Molecular Mechanisms of Motor Neurone Disease in Yeast and Worms [PDF]

Superoxide dismutase 1 (SOD1) is an enzyme responsible for intracellular breakdown of toxic reactive oxygen species in prokaryotes and eukaryotes. Mutations in SOD1 are linked to the motor neurone disease Amyotrophic lateral sclerosis (ALS), with around ...
Peswani, Amber Rose
core  

Marinesco-Sjögren syndrome protein SIL1 regulates motor neuron subtype-selective ER stress in ALS.

, 2015
Mechanisms underlying motor neuron subtype-selective endoplasmic reticulum (ER) stress and associated axonal pathology in amyotrophic lateral sclerosis (ALS) remain unclear.
Andreas Roos, Audrey Filézac de L'Etang, Rehmann, Ruth, Joachim Weis, Weis, Joachim, Ruegsegger, Céline, Anand Goswami, Niran Maharjan, Brana, Marisa Cordeiro, Filézac de L'Etang, Audrey, Roos, Andreas, Troost, Dirk, Marisa Cordeiro Braña, Cordeiro Braña, Marisa, Ruth Rehmann, Schneider, Bernard L, Schneider, Bernard L., Dirk Troost, Maharjan, Niran, Goswami, Anand, Céline Ruegsegger, Smita Saxena, Saxena, Smita, De L'Etang, Audrey Filezac, Bernard L Schneider   +24 more
core   +1 more source