Results 151 to 160 of about 5,605 (209)

Myoclonus in Pediatric Metabolic Diseases: Clinical Spectrum, Mechanisms, and Treatable Causes-A Systematic Review. [PDF]

Metabolites
Majewska E, Zdort Z, Ochocka A, Paprocka J.   +3 more
europepmc   +1 more source

Diagnosing Cerebrotendinous Xanthomatosis in a Middle-Aged Woman With Cervical Dystonia. [PDF]

J Mov Disord
Wang WS, Chiu YP, Tsai MH, Wu SL, Chen YC.   +4 more
europepmc   +1 more source

Bilateral Tendoachilles Xanthoma in a Young Female: A Rare Case Report. [PDF]

J Orthop Case Rep
Kumar H, Seth A, Chaudhary M, Saini N.
europepmc   +1 more source

Juvenile Cataract and Chronic Diarrhea: A Single Etiology. [PDF]

Cureus
Risto MI, Sobrosa P, Vilela M, Sousa L.
europepmc   +1 more source

Sitosterolemia with Compound Heterozygous Variants in the <i>ABCG5</i> Gene: A Rare Cause of Non-Immune Hemolysis and Macrothrombocytopenia [PDF]

Turk J Haematol
Bostankolu Değirmenci B, Polat H.
europepmc   +1 more source

Bilateral Achilles Tendon Xanthomas in a 17-Year-Old Female: A Clinicoradiological Case Report. [PDF]

Clin Med Insights Case Rep
Kumar A, Sachdeva R, Verma A.
europepmc   +1 more source

Molecular dynamics, docking and quantum calculations reveal conformational changes influenced by CYP271A amino acid mutations related to cerebrotendinous xanthomatosis. [PDF]

Sci Rep
Sixto-López Y, Mendoza-Figueroa HL, Landeros-Rivera B, Camacho-Molina A, Correa-Basurto J.   +4 more
europepmc   +1 more source

Autosomal recessive ataxias: 20 types, and counting [PDF]

Anttonen A-K, Arita M, Barbot C, Barkhof F, Berginer VM, Berriot-Varoqueaux N, Bomar JM, Bouchard J-P, Cavalier L, Chun HH, Cooper JM, David Schlesinger, Delia D, Di Leo E, Duquette A, El-Khamisy SF, Emília Katiane Embiruçu, Farr AK, Federico A, Fernando Kok, Fernet M, Ferrarini M, Fogel BL, Gallus GN, Glass HC, Gonçalves S, Gueven N, Gücüyener K, Hayakawa Y, Hebert MD, Jansen GA, Koskinen T, Lagier-Tourenne C, Le Ber I, Le Ber I, Lönnqvist T, Marcília Lima Martyn, Mariotti C, Marzouki N, Milone M, Montero R, Musumeci O, Nikali K, Ouyang Y, Palau F, Pandolfo M, Parisi MA, Perlman S, Quinzii CM, Rötig A, Senderek J, Takashima H, Taylor AMR, Taylor AMR, Tazir M, Türkmen S, Valente EM, Van Goethem G, Wanders RJA, Wierzbicki AS, Winterhun S, Zaki MS, Zamel R   +62 more
core   +1 more source

Best Oculomotor Endpoints for Clinical Trials in Hereditary Ataxias: A Systematic Review and Consensus by the Ataxia Global Initiative Working Group on Digital‑Motor Biomarkers. [PDF]

Cerebellum
Pretegiani E, Garces P, Antoniades CA, Sobanska A, Kovacs N, Ying SH, Gupta AS, Perlman S, Szmulewicz DJ, Pane C, Németh AH, Jardim LB, Coarelli G, Kuzmiak M, Milovanovic A, Traschütz A, Tarnutzer AA.   +16 more
europepmc   +1 more source