Results 71 to 80 of about 64,174 (311)

Clinical and molecular features and therapeutic perspectives of spinal muscular atrophy with respiratory distress type 1 [PDF]

, 2015
Spinal muscular atrophy with respiratory distress (SMARD1) is an autosomal recessive neuromuscular disease caused by mutations in the IGHMBP2 gene, encoding the immunoglobulin μ-binding protein 2, leading to motor neuron degeneration.
Corti, Stefania, Parente, Valeria, Porro, Francesca, Rinchetti, Paola, Vanoli, Fiammetta   +4 more
core   +2 more sources

Inherited metabolic epilepsies–established diseases, new approaches

Epilepsia Open, EarlyView.
Abstract Inherited metabolic epilepsies (IMEs) represent the inherited metabolic disorders (IMDs) in which epilepsy is a prevailing component, often determining other neurodevelopmental outcomes associated with the disorder. The different metabolic pathways affected by individual IMEs are the basis of their rarity and heterogeneity.
Itay Tokatly Latzer, Phillip L. Pearl
wiley   +1 more source

Neuropathy - gait changes in the diabetic foot [PDF]

, 2008
Motor neuropathy in patients with diabetes can lead to weakness in the muscles of the foot and lower leg, which in turn can lead to characteristic changes to the structure of the foot, such as an altered arch profile.
McIntosh, Caroline, Newton, Veronica
core  

Health-related quality of life in hereditary transthyretin amyloidosis polyneuropathy: a prospective, observational study [PDF]

, 2020
Background Hereditary Transthyretin Amyloidosis Polyneuropathy is a rare life-threatening neurologic disease that imposes considerable mortality and it is associated with progressive related disabilities.
Coelho, Teresa, Conceição, Isabel, Costa, João, de Carvalho, Mamede, Ferreira, Lara, Inês, Mónica   +5 more
core   +2 more sources

Genetic epilepsies with myoclonic seizures: Mechanisms and syndromes

Epilepsia Open, EarlyView.
Abstract Genetic epilepsy with myoclonic seizures encompasses a heterogeneous spectrum of conditions, ranging from benign and self‐limiting forms to severe, progressive disorders. While their causes are diverse, a significant proportion stems from genetic abnormalities.
Antonietta Coppola, Marica Rubino, Antonella Riva, Pasquale Striano   +3 more
wiley   +1 more source

Relationship between the Korean Version Survey of the Autonomic Symptoms Score and Cardiac Autonomic Neuropathy Parameters in Patients with Diabetic Peripheral Neuropathy [PDF]

Diabetes & Metabolism Journal, 2014
BackgroundThe Survey of Autonomic Symptom (SAS) scale was reported as an easy instrument to assess the autonomic symptoms in patients with early diabetic neuropathy. In this study, we investigated the relationship between the SAS scale and the parameters
Sun Hee Kim, Kyung Ae Lee, Heung Yong Jin, Hong Sun Baek, Tae Sun Park   +4 more
doaj   +1 more source

Vasa Nervorum in rat major pelvic ganglion are innervated by nitrergic nerve fibers [PDF]

, 2013
INTRODUCTION The vasa nervorum comprises a network of small diameter blood vessels that provide blood supply to nerves and ganglia. The cell bodies of autonomic nerves innervating the urogenital organs are housed in the major pelvic ganglia (MPG) in rats.
Ames, Andersson, Appenzeller, Asif Muneer, Benesova, Benesova, Cameron, Cameron, Cameron, Cellek, Cellek, Cellek, Cellek, Chandrasekharan, Chantrain, Chung, Dail, Dashwood, Dixon, Giuliano, Gonzalez‐Hernandez, Hackett, Hlaing, Iadecola, Kalsi, Karl A. Beetson, Kavdia, Kedia, Kobayashi, Low, Mary A. Cotter, Mbaku, McManis, Melikian, Norman E. Cameron, Padma‐Nathan, Porst, Saenz de Tejada, Schirar, Selim Cellek, Sonntag, Stephanie F. Smith, Stuehr, Tabatai, Toda, Toda, Toda, Toque, Vitullo, Wang   +49 more
core   +1 more source

Oral manifestations, dental management, and a rare homozygous mutation of the PRDM12 gene in a boy with hereditary sensory and autonomic neuropathy type VIII: a case report and review of the literature

Journal of Medical Case Reports, 2017
Background Hereditary sensory and autonomic neuropathy type VIII is a rare autosomal recessive inherited disorder. Chen et al. recently identified the causative gene and characterized biallelic mutations in the PR domain-containing protein 12 gene, which
Karim Elhennawy, Seif Reda, Christian Finke, Luitgard Graul-Neumann, Paul-Georg Jost-Brinkmann, Theodosia Bartzela   +5 more
doaj   +1 more source

Comparison of Efficiencies of Neurological Physical Examination, Neurothesiometer and PainDETECT Questionnaire in Diagnosing Diabetic Neuropathy [PDF]

, 2020
Objective: To compare the efficacies of neurological physical examination, neurothesiometer and PainDETECT questionnaire in diagnosing diabetic neuropathy.
Aftab, M. F. (Muhammad), Ahsan, H. (Hajrah), Kabir, A. (Ahmed), Kareem, T. (Talha), Tanveer, S. (Salma), zeb, B. (Bahawal)   +5 more
core  

Peripheral neurological disturbances, autonomic dysfunction, and antineuronal antibodies in adult celiac disease before and after a gluten-free diet [PDF]

, 2006
Thirty-two consecutive adult celiac disease (CD) patients (pts), complaining of peripheral neuropathy (12 pts), autonomic dysfunction (17 pts), or both (3 pts), were evaluated to assess the presence of neurological damage (by clinical neurological ...
Arciprete, F, Brandimarte, G, Capria, A, Fontana, L, Giorgetti, G, Iani, C, Tursi, A   +6 more
core   +2 more sources