Results 61 to 70 of about 48,564 (222)

Novel homozygous GBA2 mutation in a patient with complicated spastic paraplegia [PDF]

, 2018
Hereditary spastic paraplegias (HSPs) are a heterogeneous group of neurological disorders characterized primarily by a pyramidal syndrome with lower limb spasticity, which can manifest as pure HSP or associated with a number of neurological or non ...
Bertini, Enrico, Coarelli, Giulia, Ferraldeschi, Michela, Fornasiero, Arianna, Frontali, Marina, Nicita, Francesco, Ristori, Giovanni, Romano, Silvia, Salvetti, Marco, Spadaro, Maria, Travaglini, Lorena   +10 more
core   +1 more source

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

A rare partnership: patient community and industry collaboration to shape the impact of real-world evidence on the rare disease ecosystem

Orphanet Journal of Rare Diseases
People with rare lysosomal storage diseases face challenges in their care that arise from disease complexity and heterogeneity, compounded by many healthcare professionals being unfamiliar with these diseases.
T. L. Klein, J. Bender, S. Bolton, T. Collin-Histed, A. Daher, L. De Baere, D. Dong, J. Hopkin, J. Johnson, T. Lai, M. Pavlou, T. Schaller, I. Žnidar   +12 more
doaj   +1 more source

Biomarkers of Leucine‐Rich Repeat Kinase 2 (LRRK2) and Lysosomal Dysfunction in Progressive Supranuclear Palsy

Movement Disorders, EarlyView.
Abstract Background Common and rare genetic variants in leucine‐rich repeat kinase 2 (LRRK2) have been linked with sporadic and familial Parkinson's disease (PD). Recently, we discovered that common genetic variation near the LRRK2 locus determined survival in progressive supranuclear palsy (PSP).
Louise‐Kristine Nielsen, Joshua L.I. Frost, David P. Vaughan, Raquel Real, Riona Fumi, Marte Theilmann Jensen, Megan Hodgson, Eleanor J. Stafford, Lesley Wu, Olaf Ansorge, Annelies Quaegebeur, Kieren S.J. Allinson, Thomas T. Warner, Zane Jaunmuktane, Anjum Misbahuddin, P. Nigel Leigh, Boyd C.P. Ghosh, Kailash P. Bhatia, Alistair Church, Christopher Kobylecki, Michele T.M. Hu, James B. Rowe, Alan A. Shomo, Danielle L. Graham, Omar S. Mabrouk, Huw R. Morris, Esther M. Sammler, Edwin Jabbari   +27 more
wiley   +1 more source

Niemann Peak Disease Type A in Necropsy of the Liver of a Four-Month-Old Female with Fe-ver and Pancytopenia

Iranian South Medical Journal, 2021
Niemann-pick disease is a severe disorder in sphingolipid metabolism and esterification of cholesterol which results in accumulations of sphingomyelin in different tissues.
Amer Yazdanparast, Gholamreza Fathpour, Parvin Jalali   +2 more
doaj  

Use of miglustat in a child with late-infantile-onset Niemann-Pick disease type C and frequent seizures: a case report

Journal of Medical Case Reports, 2012
Introduction Niemann-Pick disease type C is a rare genetic lysosomal storage disease associated with impaired intracellular lipid trafficking and a range of progressive neurological manifestations.
Skorpen Johannes, Helland Ingrid B, Tennøe Bjørn   +2 more
doaj   +1 more source

Longitudinal assessment of reflexive and volitional saccades in Niemann-Pick Type C disease during treatment with miglustat [PDF]

, 2015
Peer reviewedPublisher ...
Abel, Larry A, Bowman, Elizabeth A, Stainer, Matthew J, Velakoulis, Dennis, Walterfang, Mark   +4 more
core   +3 more sources

Miglustat in Niemann-Pick disease type C patients: a review

Orphanet Journal of Rare Diseases, 2018
ObjectiveNiemann-Pick disease type C (NP-C) is a rare, autosomal recessive, neurodegenerative disease associated with a wide variety of progressive neurological manifestations.
M. Pineda, M. Walterfang, M. Patterson
semanticscholar   +1 more source

Niemann - Pick disease associated with hemophagocytic syndrome

Turkish Journal of Hematology, 2010
Hemophagocytic lymphohistiocytosis (HLH) is a disease characterized by phagocytosis of blood cells by macrophages within the lymphoreticular tissue. It can develop secondary to some diseases or be familial as a result of genetic mutations.
Serap Karaman, Nafiye Urgancı, Günsel Kutluk, Feyzullah Çetinkaya   +3 more
doaj   +3 more sources

Niemann-Pick Disease Type C

Pediatric Neurology Briefs, 1989
The neurologic symptomatology in 22 patients with Niemann-Pick disease type C have been analyzed and reported from the Developmental and Metabolic Neurology Branch, National Institute of Neurological Disorders and Stroke, National Institutes of Health ...
J Gordon Millichap
doaj   +1 more source