48 related articles for article (PubMed ID: 19307547)
1. Response to: POLG1 variants can at most cause MNGIE-like but not classic MNGIE phenotypes.
Altuntaş C; Uzunhan TA; Ertürk B; Petmezci MT; Çakar NE; Noyan B; Dokucu Aİ; Önal H
Clin Neurol Neurosurg; 2024 Jan; 236():107893. PubMed ID: 37455189
[No Abstract] [Full Text] [Related]
2. Molecular mechanisms linking missense ACTG2 mutations to visceral myopathy.
Ceron RH; Báez-Cruz FA; Palmer NJ; Carman PJ; Boczkowska M; Heuckeroth RO; Ostap EM; Dominguez R
Sci Adv; 2024 May; 10(22):eadn6615. PubMed ID: 38820162
[TBL] [Abstract][Full Text] [Related]
3. Titinopathy, an atypical respiratory failure.
Morais J; Oliveira AA; Pires O; Burmester I; Regadas MJ; Gouveia P
BMJ Case Rep; 2020 Sep; 13(9):. PubMed ID: 32912888
[TBL] [Abstract][Full Text] [Related]
4. Reply: Hereditary myopathy with early respiratory failure is caused by mutations in the titin FN3 119 domain.
Pfeffer G; Chinnery PF
Brain; 2014 Jun; 137(Pt 6):e280. PubMed ID: 24578547
[No Abstract] [Full Text] [Related]
5. Sometimes Gut Smooth Muscle Forget That They Are Supposed to Contract: CARMN and Visceral Myopathy.
Heuckeroth RO
Gastroenterology; 2023 Jul; 165(1):27-29. PubMed ID: 37172742
[No Abstract] [Full Text] [Related]
6.
Zada A; Kuil LE; de Graaf BM; Kakiailatu N; Windster JD; Brooks AS; van Slegtenhorst M; de Koning B; Wijnen RMH; Melotte V; Hofstra RMW; Brosens E; Alves MM
Front Cell Dev Biol; 2022; 10():901824. PubMed ID: 35874825
[No Abstract] [Full Text] [Related]
7. Expanding the genotype-phenotype correlation of childhood sensory polyneuropathy of genetic origin.
Chakravorty S; Logan R; Elson MJ; Luke RR; Verma S
Sci Rep; 2020 Sep; 10(1):16184. PubMed ID: 32999401
[TBL] [Abstract][Full Text] [Related]
8. Pediatric Intestinal Pseudo-obstruction in the Era of Genetic Sequencing.
Gamboa HE; Sood M
Curr Gastroenterol Rep; 2019 Dec; 21(12):70. PubMed ID: 31848803
[TBL] [Abstract][Full Text] [Related]
9. Molecular Signature of CAID Syndrome: Noncanonical Roles of SGO1 in Regulation of TGF-β Signaling and Epigenomics.
Piché J; Gosset N; Legault LM; Pacis A; Oneglia A; Caron M; Chetaille P; Barreiro L; Liu D; Qi X; Nattel S; Leclerc S; Breton-Larrivée M; ; McGraw S; Andelfinger G
Cell Mol Gastroenterol Hepatol; 2019; 7(2):411-431. PubMed ID: 30739867
[TBL] [Abstract][Full Text] [Related]
10. POLG-related disorders and their neurological manifestations.
Rahman S; Copeland WC
Nat Rev Neurol; 2019 Jan; 15(1):40-52. PubMed ID: 30451971
[TBL] [Abstract][Full Text] [Related]
11. Lethal neonatal mitochondrial phenotype caused by a novel polymerase subunit gamma mutation: A case report.
AlJabri MF; Kamal NM; Halabi A; Korbi H; Alsayyali MMA; Alzahrani YA
Medicine (Baltimore); 2018 Oct; 97(40):e12591. PubMed ID: 30290626
[TBL] [Abstract][Full Text] [Related]
12. Mitochondrial POLG related disorder presenting prenatally with fetal cerebellar growth arrest.
Inbar-Feigenberg M; Blaser S; Hawkins C; Shannon P; Hewson S; Chitayat D
Metab Brain Dis; 2018 Aug; 33(4):1369-1373. PubMed ID: 29574624
[TBL] [Abstract][Full Text] [Related]
13. Affection of the Respiratory Muscles in Combined Complex I and IV Deficiency.
Finsterer J; Rauschka H; Segal L; Kovacs GG; Rolinski B
Open Neurol J; 2017; 11():1-6. PubMed ID: 28217183
[TBL] [Abstract][Full Text] [Related]
14. Genetic causes of hypomagnesemia, a clinical overview.
Viering DHHM; de Baaij JHF; Walsh SB; Kleta R; Bockenhauer D
Pediatr Nephrol; 2017 Jul; 32(7):1123-1135. PubMed ID: 27234911
[TBL] [Abstract][Full Text] [Related]
15. Transcriptome of the inner circular smooth muscle of the developing mouse intestine: Evidence for regulation of visceral smooth muscle genes by the hedgehog target gene, cJun.
Gurdziel K; Vogt KR; Walton KD; Schneider GK; Gumucio DL
Dev Dyn; 2016 May; 245(5):614-26. PubMed ID: 26930384
[TBL] [Abstract][Full Text] [Related]
16. Mutations in RAD21 disrupt regulation of APOB in patients with chronic intestinal pseudo-obstruction.
Bonora E; Bianco F; Cordeddu L; Bamshad M; Francescatto L; Dowless D; Stanghellini V; Cogliandro RF; Lindberg G; Mungan Z; Cefle K; Ozcelik T; Palanduz S; Ozturk S; Gedikbasi A; Gori A; Pippucci T; Graziano C; Volta U; Caio G; Barbara G; D'Amato M; Seri M; Katsanis N; Romeo G; De Giorgio R
Gastroenterology; 2015 Apr; 148(4):771-782.e11. PubMed ID: 25575569
[TBL] [Abstract][Full Text] [Related]
17. Alpers-Huttenlocher syndrome.
Saneto RP; Cohen BH; Copeland WC; Naviaux RK
Pediatr Neurol; 2013 Mar; 48(3):167-78. PubMed ID: 23419467
[TBL] [Abstract][Full Text] [Related]
18. Mitochondrial disorders of DNA polymerase γ dysfunction: from anatomic to molecular pathology diagnosis.
Zhang L; Chan SS; Wolff DJ
Arch Pathol Lab Med; 2011 Jul; 135(7):925-34. PubMed ID: 21732785
[TBL] [Abstract][Full Text] [Related]
19. Fatal congenital myopathy and gastrointestinal pseudo-obstruction due to POLG1 mutations.
Giordano C; Powell H; Leopizzi M; De Curtis M; Travaglini C; Sebastiani M; Gallo P; Taylor RW; d'Amati G
Neurology; 2009 Mar; 72(12):1103-5. PubMed ID: 19307547
[No Abstract] [Full Text] [Related]
20.
; ; . PubMed ID:
[No Abstract] [Full Text] [Related]
[Next] [New Search]
