These tools will no longer be maintained as of December 31, 2024. Archived website can be found here. PubMed4Hh GitHub repository can be found here. Contact NLM Customer Service if you have questions.


BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

107 related articles for article (PubMed ID: 38951194)

  • 1. A novel heterozygous TMEM63A variant in a familial case with early onset nystagmus, severe hypomyelination, and a favorable adult prognosis.
    Yoneno S; Yamamoto K; Tabata K; Shimizu-Motohashi Y; Tomita A; Hayashi T; Maki H; Sato N; Inoue K; Saitsu H; Komaki H
    J Hum Genet; 2024 Jul; ():. PubMed ID: 38951194
    [TBL] [Abstract][Full Text] [Related]  

  • 2. A novel de novo TMEM63A variant in a patient with severe hypomyelination and global developmental delay.
    Fukumura S; Hiraide T; Yamamoto A; Tsuchida K; Aoto K; Nakashima M; Saitsu H
    Brain Dev; 2022 Feb; 44(2):178-183. PubMed ID: 34598833
    [TBL] [Abstract][Full Text] [Related]  

  • 3. A
    Siori D; Vlachakis D; Makrythanasis P; Traeger-Synodinos J; Veltra D; Kampouraki A; Chrousos GP
    Genes (Basel); 2024 Apr; 15(5):. PubMed ID: 38790154
    [TBL] [Abstract][Full Text] [Related]  

  • 4. Heterozygous Variants in the Mechanosensitive Ion Channel TMEM63A Result in Transient Hypomyelination during Infancy.
    Yan H; Helman G; Murthy SE; Ji H; Crawford J; Kubisiak T; Bent SJ; Xiao J; Taft RJ; Coombs A; Wu Y; Pop A; Li D; de Vries LS; Jiang Y; Salomons GS; van der Knaap MS; Patapoutian A; Simons C; Burmeister M; Wang J; Wolf NI
    Am J Hum Genet; 2019 Nov; 105(5):996-1004. PubMed ID: 31587869
    [TBL] [Abstract][Full Text] [Related]  

  • 5. A Recurrent
    Macintosh J; Thiffault I; Pastinen T; Sztriha L; Bernard G
    Child Neurol Open; 2023; 10():2329048X231176673. PubMed ID: 37284702
    [No Abstract]   [Full Text] [Related]  

  • 6. A Novel Homozygous Splice Site Variant in AIMP1 Gene Causing Hypomyelinating Leukodystrophy: Case Report and Review of the Literature.
    Quental R; Sampaio M; Alonso I; Quental S; Leão M; Sousa R
    Neuropediatrics; 2023 Apr; 54(2):120-125. PubMed ID: 36652953
    [TBL] [Abstract][Full Text] [Related]  

  • 7. [A family of hereditary protein S deficiency with the onset of pulmonary embolism and literature review].
    Wei CJ; Guo CY; Li QR; Ye LP
    Zhonghua Er Ke Za Zhi; 2022 Feb; 60(2):134-138. PubMed ID: 35090231
    [No Abstract]   [Full Text] [Related]  

  • 8. Spinal cord involvement and paroxysmal events in "Infantile Onset Transient Hypomyelination" due to TMEM63A mutation.
    Tonduti D; Mura E; Masnada S; Bertini E; Aiello C; Zini D; Parmeggiani L; Cantalupo G; Talenti G; Veggiotti P; Spaccini L; Iascone M; Parazzini C
    J Hum Genet; 2021 Oct; 66(10):1035-1037. PubMed ID: 33785861
    [TBL] [Abstract][Full Text] [Related]  

  • 9. Genetic and phenotypic characterization of NKX6-2-related spastic ataxia and hypomyelination.
    Chelban V; Alsagob M; Kloth K; Chirita-Emandi A; Vandrovcova J; Maroofian R; Davagnanam I; Bakhtiari S; AlSayed MD; Rahbeeni Z; AlZaidan H; Malintan NT; Johannsen J; Efthymiou S; Ghayoor Karimiani E; Mankad K; Al-Shahrani SA; Beiraghi Toosi M; AlShammari M; Groppa S; Haridy NA; AlQuait L; Qari A; Huma R; Salih MA; Almass R; Almutairi FB; Hamad MH; Alorainy IA; Ramzan K; Imtiaz F; Puiu M; Kruer MC; Bierhals T; Wood NW; Colak D; Houlden H; Kaya N
    Eur J Neurol; 2020 Feb; 27(2):334-342. PubMed ID: 31509304
    [TBL] [Abstract][Full Text] [Related]  

  • 10. A New Patient With Intermediate Severe Salla Disease With Hypomyelination: A Literature Review for Salla Disease.
    Barmherzig R; Bullivant G; Cordeiro D; Sinasac DS; Blaser S; Mercimek-Mahmutoglu S
    Pediatr Neurol; 2017 Sep; 74():87-91.e2. PubMed ID: 28662915
    [TBL] [Abstract][Full Text] [Related]  

  • 11. Variants in the zinc transporter TMEM163 cause a hypomyelinating leukodystrophy.
    do Rosario MC; Bey GR; Nmezi B; Liu F; Oranburg T; Cohen ASA; Coffman KA; Brown MR; Kiselyov K; Waisfisz Q; Flohil MT; Siddiqui S; Rosenfeld JA; Iglesias A; Girisha KM; Wolf NI; Padiath QS; Shukla A
    Brain; 2022 Dec; 145(12):4202-4209. PubMed ID: 35953447
    [TBL] [Abstract][Full Text] [Related]  

  • 12. A Rare Case of Pontocerebellar Hypoplasia Type 1B With Literature Review.
    Spyridakis AC; Cao Y; Litra F
    Cureus; 2022 Jul; 14(7):e27098. PubMed ID: 36004024
    [TBL] [Abstract][Full Text] [Related]  

  • 13. Further Delineation of the Clinical and Pathologic Features of HIKESHI-Related Hypomyelinating Leukodystrophy.
    Helman G; Zerem A; Almad A; Hacker JL; Woidill S; Sase S; LeFevre AN; Ekstein J; Johansson MM; Stutterd CA; Taft RJ; Simons C; Grinspan JB; Pizzino A; Schmidt JL; Harding B; Hirsch Y; Viaene AN; Fattal-Valevski A; Vanderver A
    Pediatr Neurol; 2021 Aug; 121():11-19. PubMed ID: 34111619
    [TBL] [Abstract][Full Text] [Related]  

  • 14.
    ; ; . PubMed ID:
    [No Abstract]   [Full Text] [Related]  

  • 15.
    ; ; . PubMed ID:
    [No Abstract]   [Full Text] [Related]  

  • 16.
    ; ; . PubMed ID:
    [No Abstract]   [Full Text] [Related]  

  • 17.
    ; ; . PubMed ID:
    [No Abstract]   [Full Text] [Related]  

  • 18.
    ; ; . PubMed ID:
    [No Abstract]   [Full Text] [Related]  

  • 19.
    ; ; . PubMed ID:
    [No Abstract]   [Full Text] [Related]  

  • 20.
    ; ; . PubMed ID:
    [No Abstract]   [Full Text] [Related]  

    [Next]    [New Search]
    of 6.