Genetics

Nonketotic hyperglycinemia – Genetics Home Reference

  • Aliefendioğlu D, Tana Aslan Ay, Coşkun T, Dursun A, Cakmak FN, Kesimer M. Transient nonketotic hyperglycinemia: two situation experiences and literature assessment. Pediatr Neurol. 2003 Feb28(2):151-five. Evaluation.

  • Applegarth DA, Toone JR. Glycine encephalopathy (nonketotic hyperglycinaemia) : assessment and update. J Inherit Metab Dis. 200427(3):417-22. Evaluation.

  • Applegarth DA, Toone JR. Glycine encephalopathy (nonketotic hyperglycinemia): feedback and speculations. Am J Med Genet A. 2006 Jan 15140(2):186-eight.

  • Coughlin CR 2nd, Swanson MA, Kronquist K, Acquaviva C, Hutchin T, Rodríguez-Pombo P, Väisänen ML, Spector E, Creadon-Swindell G, Brás-Goldberg AM, Rahikkala E, Moilanen JS, Mahieu V, Matthijs G, Bravo-Alonso I, Pérez-Cerdá C, Ugarte M, Vianey-Saban

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    Saul-Wilson syndrome – Genetics Home Reference

    Ferreira CR, Xia ZJ, Clément A, Parry DA, Davids M, Taylan F, Sharma P, Turgeon CT, Blanco-Sánchez B, Ng BG, Logan CV, Wolfe LA, Solomon BD, Cho MT, Douglas G, Carvalho DR, Bratke H, Haug MG, Phillips JB, Wegner J, Tiemeyer M, Aoki K Undiagnosed Disorders Network Scottish Genome Partnership, Nordgren A, Hammarsjö A, Duker AL, Rohena L, Hove HB, Ek J, Adams D, Tifft CJ, Onyekweli T, Weixel T, Macnamara E, Radtke K, Powis Z, Earl D, Gabriel M, Russi AHS, Brick L, Kozenko M, Tham E, Raymond KM, Phillips JA 3rd, Tiller GE, Wilson WG, Hamid R, Malicdan

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    STAC3 disorder – Genetics Home Reference

  • Campiglio M, Flucher BE. STAC3 stably interacts through its C1 domain with Ca(V)1.1 in skeletal muscle triads. Sci Rep. 2017 Jan 237:41003. doi: 10.1038/srep41003.

  • Campiglio M, Kaplan MM, Flucher BE. STAC3 incorporation into skeletal muscle triads happens independent of the dihydropyridine receptor. J Mobile Physiol. 2018 Dec233(12):9045-9051. doi: 10.1002/jcp.26767. Epub 2018 Aug 2.

  • Grzybowski M, Schänzer A, Pepler A, Heller C, Neubauer BA, Hahn A. Novel STAC3 Mutations in the First Non-Amerindian Affected individual with Native American Myopathy. Neuropediatrics. 2017 Dec48(six):451-455. doi: 10.1055/s-0037-1601868. Epub 2017 Apr 15.

  • Horstick EJ, Linsley JW, Dowling JJ, Hauser MA, McDonald KK, Ashley-Koch A, Saint-Amant

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    ADPEAF – Genetics Home Reference

    Autosomal dominant partial epilepsy with auditory features (ADPEAF) is an uncommon form of epilepsy that runs in families. This disorder causes seizures usually characterized by sound-related (auditory) symptoms such as buzzing, humming, or ringing. Some people experience more complex sounds during a seizure, such as specific voices or music, or changes in the volume of sounds. Some people with ADPEAF suddenly become unable to understand language before losing consciousness during a seizure. This inability to understand speech is known as receptive aphasia. Less commonly, seizures may cause visual hallucinations, a disturbance in the sense of smell, a feeling

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    GRN-related frontotemporal lobar degeneration – Genetics Home Reference

  • Chen Q, Boeve BF, Senjem M, Tosakulwong N, Lesnick T, Brushaber D, Dheel C, Fields J, Forsberg L, Gavrilova R, Gearhart D, Graff-Radford J, Graff-Radford N, Jack CR Jr, Jones D, Knopman D, Kremers WK, Lapid M, Rademakers R, Ramos EM, Syrjanen J, Boxer AL, Rosen H, Wszolek ZK, Kantarci K. Trajectory of lobar atrophy in asymptomatic and symptomatic GRN mutation carriers: a longitudinal MRI examine. Neurobiol Getting older. 2019 Dec 12. pii: S0197-4580(19)30432-4. doi: 10.1016/j.neurobiolaging.2019.12.004. [Epub ahead of print]

  • Hsiung GYR, Feldman HH. GRN-Relevant Frontotemporal Dementia. 2007 Sep 7 [updated 2013 Mar 14]. In: Pagon RA, Adam MP, Ardinger

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