Results 51 to 60 of about 82,823 (261)

Pathway Analyses of Inherited Neuropathies Identify Putative Common Mechanisms of Axon Degeneration

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Inherited neuropathies (IN) are associated with over 100 different genetic mutations presenting with a variety of phenotypes. This complexity suggests multiple pathways may converge onto a limited number of downstream pathways to effect axonal injury.
Christopher R. Cashman, Craig Blackstone, Reza Sadjadi   +2 more
wiley   +1 more source

Brunkow exercises and low back pain

Biomolecules & Biomedicine, 2004
Brunkow exercises starting with dynamic contraction of hands and feet with fixed point on the wrist or/and heal. Dynamic contraction from the beginning, transferring through kinetic chain, leads to isometric contraction of the group of muscles, which ...
Emela Mujić Skikić, Suad Trebinjac, Slavica Sakota, Dijana Avdić, Aida Delić   +4 more
doaj   +1 more source

Paraplegia aguda. Uma complicação rara da dissecção aórtica Acute paraplegia. A rare complication of aortic dissection

Arquivos Brasileiros de Cardiologia, 1998
Mulher normotensa de 67 anos desenvolveu síncope, seguida de choque, e, mesmo após estabilização hemodinâmica, permaneceu anúrica. Observaram-se paraplegia e paresia do membro superior direito, além de isquemia das extremidades distais dos membros ...
Renato Côrtes de Lacerda, Patrícia Bernard Andrea, Evaristo Machado Neto, Carlos Baptista de Figueiredo, Alfredo Brasil Teixeira, Paulo Cézar Monteiro de Carvalho   +5 more
doaj   +1 more source

CXCL13 Damages Blood Spinal Cord Barrier by Promoting RNF6/Sqstm1‐Ubiquitination Induced Autophagy in Experimental Allergic Encephalomyelitis

Advanced Science, EarlyView.
In multiple sclerosis, the disruption of the blood‐spinal cord barrier (BSCB) induced by CXCL13 facilitates the infiltration of inflammatory cells into the central nervous system, resulting in demyelination and neuronal injury. Mechanistically, the deleterious impact of CXCL13 on the BSCB is associated with a reduction in tight junction protein ...
Jingjing Han, Rui Hong, Cong Cao, Wanhua Feng, Wei Zhuang, Gui Wang, Jingchao Tang, Ya Yang, Chu Zhang, Aihua Zhou, Xuebin Qu   +10 more
wiley   +1 more source

Natural History and Diagnostic Findings in an Adult Man Diagnosed With Attenuated Krabbe Disease

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Krabbe disease (KD), or globoid cell leukodystrophy, is a rare autosomal recessive lysosomal storage disorder caused by a deficiency in galactocerebrosidase (GALC), leading to psychosine (galactosylsphingosine) accumulation and myelin damage.
Eamon P. McCarron, Andrew Oldham, Amit Herwadkar, Sarah Jenkinson, Christopher Campbell, Kate Neal, Heather J. Church, James A. Cooper, Karolina M. Stepien   +8 more
wiley   +1 more source

Complex phenotype in an Italian family with a novel mutation in SPG3A. [PDF]

, 2010
Mutations in the SPG3A gene represent a significant cause of autosomal dominant hereditary spastic paraplegia with early onset and pure phenotype. We describe an Italian family manifesting a complex phenotype, characterized by cerebellar involvement in ...
ANTENORA, ANTONELLA, BILO, LEONILDA, CRISCUOLO, CHIARA, de Leva M.F., DE MICHELE, GIUSEPPE, FILLA, ALESSANDRO, Longo D., Pappatà S., PELUSO, SILVIO, QUARANTELLI, MARIO, Santorelli F.M., Tessa A.   +11 more
core  

“Ears of the Lynx” Sign on Brain MRI in Siblings With Spastic Paraplegia: A Case Report

Annals of the Child Neurology Society, EarlyView.
ABSTRACT Background Hereditary spastic paraplegia (HSP) is a rare, clinically and genetically heterogenous condition that selectively affects the terminal segment of the descending corticospinal tract of the lumbar spine area, causing lower extremity spastic weakness with or without associated complex neurological symptoms.
Qingqing Wang, Manikum Moodley
wiley   +1 more source

Robust Control of the Sit-to-Stand Movement for a Powered Lower Limb Orthosis [PDF]

, 2018
The sit-to-stand movement is a key feature for wide adoption of powered lower limb orthoses for patients with complete paraplegia. In this paper we study the control of the ascending phase of the sit-to-stand movement for a minimally actuated powered lower limb orthosis at the hips. First, we generate a pool of finite horizon Linear Quadratic Regulator
arxiv   +1 more source

Paraplegic standing supported by FES-controlled ankle stiffness [PDF]

, 2001
The objective of this paper was to investigate whether a paraplegic subject-is able to maintain balance during standing by means of voluntary and reflex activity of the upper body while being supported by closed loop controlled ankle stiffness using FES.
Hunt, K.J., Jaime, R.P., Matjacic, Z.
core   +1 more source

Compound heterozygosity of a De novo 16q24.1 deletion and missense mutation in COX4I1 leads to developmental regression, intellectual disability, and seizures

Epilepsia Open, EarlyView.
Abstract The COX4I1 is responsible for encoding a crucial component of cytochrome c oxidase, integral to electron transport in the mitochondrial respiratory chain. Mutations in COX4I1 can result in a rare autosomal recessive disorder characterized by growth retardation, slow weight gain, microcephaly, and potentially, hematologic symptoms such as ...
Zhen Liu, Mei He, Xuan Luo, Hu Pan, Xiao Mao, Jinping Su   +5 more
wiley   +1 more source