126 related articles for article (PubMed ID: 37392669)
1. A Case Series of Patients With MYBPC1 Gene Variants Featuring Undulating Tongue Movements as Myogenic Tremor.
Uneoka S; Kobayashi T; Numata-Uematsu Y; Oikawa Y; Katata Y; Okubo Y; Abe Y; Kikuchi A; Takayama J; Tamiya G; Kure S; Saito K; Uematsu M
Pediatr Neurol; 2023 Sep; 146():16-20. PubMed ID: 37392669
[TBL] [Abstract][Full Text] [Related]
2. Congenital tremor and myopathy secondary to novel MYBPC1 variant.
Leduc-Pessah H; Smith IC; Kernohan KD; Sampaio M; Melkus G; Strasser L; Chisholm C; Huang L; Hanes I; Tran MA; Venkateswaran S; Muir K; Charlesworth L; Warman-Chardon J
J Neurol Sci; 2024 Feb; 457():122864. PubMed ID: 38185014
[TBL] [Abstract][Full Text] [Related]
3. Sarcomeric deficits underlie MYBPC1-associated myopathy with myogenic tremor.
Geist Hauserman J; Stavusis J; Joca HC; Robinett JC; Hanft L; Vandermeulen J; Zhao R; Stains JP; Konstantopoulos K; McDonald KS; Ward C; Kontrogianni-Konstantopoulos A
JCI Insight; 2021 Oct; 6(19):. PubMed ID: 34437302
[TBL] [Abstract][Full Text] [Related]
4. Novel mutations in MYBPC1 are associated with myogenic tremor and mild myopathy.
Stavusis J; Lace B; Schäfer J; Geist J; Inashkina I; Kidere D; Pajusalu S; Wright NT; Saak A; Weinhold M; Haubenberger D; Jackson S; Kontrogianni-Konstantopoulos A; Bönnemann CG
Ann Neurol; 2019 Jul; 86(1):129-142. PubMed ID: 31025394
[TBL] [Abstract][Full Text] [Related]
5. Heterozygous variants in MYBPC1 are associated with an expanded neuromuscular phenotype beyond arthrogryposis.
Shashi V; Geist J; Lee Y; Yoo Y; Shin U; Schoch K; Sullivan J; Stong N; Smith E; Jasien J; Kranz P; ; Lee Y; Shin YB; Wright NT; Choi M; Kontrogianni-Konstantopoulos A
Hum Mutat; 2019 Aug; 40(8):1115-1126. PubMed ID: 31264822
[TBL] [Abstract][Full Text] [Related]
6. MYBPC1, an Emerging Myopathic Gene: What We Know and What We Need to Learn.
Geist J; Kontrogianni-Konstantopoulos A
Front Physiol; 2016; 7():410. PubMed ID: 27683561
[TBL] [Abstract][Full Text] [Related]
7. Loss of actomyosin regulation in distal arthrogryposis myopathy due to mutant myosin binding protein-C slow.
Ackermann MA; Patel PD; Valenti J; Takagi Y; Homsher E; Sellers JR; Kontrogianni-Konstantopoulos A
FASEB J; 2013 Aug; 27(8):3217-28. PubMed ID: 23657818
[TBL] [Abstract][Full Text] [Related]
8. Compound heterozygous variants in MYBPC1 lead to severe distal arthrogryposis type-1 manifestations.
Iyer A; Lauerova B; Mariano J; Haberlová J; Lassuthova P; Zidkova J; Wright NT; Kontrogianni-Konstantopoulos A
Gene; 2024 Jun; 910():148339. PubMed ID: 38438057
[TBL] [Abstract][Full Text] [Related]
9. A case of congenital myopathy accompanied by tremor due to a MYBPC1 mutation.
Shiraishi K; Tsuburaya RS; Mukaida S; Yano N; Yoshida T
Pediatr Int; 2022 Jan; 64(1):e15061. PubMed ID: 35510679
[No Abstract] [Full Text] [Related]
10. Acid ceramidase deficiency associated with spinal muscular atrophy with progressive myoclonic epilepsy.
Gan JJ; Garcia V; Tian J; Tagliati M; Parisi JE; Chung JM; Lewis R; Baloh R; Levade T; Pierson TM
Neuromuscul Disord; 2015 Dec; 25(12):959-63. PubMed ID: 26526000
[TBL] [Abstract][Full Text] [Related]
11. Expanding the Spectrum of Congenital Myopathy Linked to Variants in the
Lanvin PL; Li D; Conrad S; Magot A; Micaelli X; Péréon Y; Vincent M; Isidor B; Sternberg D; McCormick EM; Hakonarson H; Mercier S; Falk MJ
Neurol Clin Pract; 2024 Jun; 14(3):e200228. PubMed ID: 38690148
[TBL] [Abstract][Full Text] [Related]
12. Spinal muscular atrophy in African children.
Moosa A; Dawood A
Neuropediatrics; 1990 Feb; 21(1):27-31. PubMed ID: 2314555
[TBL] [Abstract][Full Text] [Related]
13. Myosin binding protein-C slow: a multifaceted family of proteins with a complex expression profile in fast and slow twitch skeletal muscles.
Ackermann MA; Kontrogianni-Konstantopoulos A
Front Physiol; 2013; 4():391. PubMed ID: 24399972
[TBL] [Abstract][Full Text] [Related]
14. Tongue Fasciculations and Electrocardiographic Tremors in Spinal Muscular Atrophy.
Sharawat IK; Sankhyan N
J Pediatr; 2018 Jun; 197():314. PubMed ID: 29429566
[No Abstract] [Full Text] [Related]
15. [An autopsy case with lower motor neuron disease showing a transient-appearance of anti-GM1 antibody and an improvement of conduction block after gamma-globulin administration].
Kikuchi H; Kawano Y; Dohura K; Kawamura T; Taniwaki T; Yamada T; Kato M; Iwaki T; Kira J
No To Shinkei; 1999 May; 51(5):455-64. PubMed ID: 10396755
[TBL] [Abstract][Full Text] [Related]
16. Unlocking the Role of sMyBP-C: A Key Player in Skeletal Muscle Development and Growth.
Song T; McNamara JW; Baby A; Ma W; Landim-Vieira M; Natesan S; Pinto JR; Lorenz JN; Irving TC; Sadayappan S
bioRxiv; 2023 Nov; ():. PubMed ID: 38076858
[TBL] [Abstract][Full Text] [Related]
17. MYBPC1 mutations impair skeletal muscle function in zebrafish models of arthrogryposis.
Ha K; Buchan JG; Alvarado DM; McCall K; Vydyanath A; Luther PK; Goldsmith MI; Dobbs MB; Gurnett CA
Hum Mol Genet; 2013 Dec; 22(24):4967-77. PubMed ID: 23873045
[TBL] [Abstract][Full Text] [Related]
18. Clinical features of spinal muscular atrophy (SMA) type 3 (Kugelberg-Welander disease).
Salort-Campana E; Quijano-Roy S
Arch Pediatr; 2020 Dec; 27(7S):7S23-7S28. PubMed ID: 33357593
[TBL] [Abstract][Full Text] [Related]
19. Fasciculation of the eyelids: an additional clue to clinical diagnosis in spinal muscular atrophy.
Skouteli H; Dubowitz V
Neuropediatrics; 1984 Aug; 15(3):145-6. PubMed ID: 6483112
[TBL] [Abstract][Full Text] [Related]
20. Novel BICD2 mutation in a Japanese family with autosomal dominant lower extremity-predominant spinal muscular atrophy-2.
Yoshioka M; Morisada N; Toyoshima D; Yoshimura H; Nishio H; Iijima K; Takeshima Y; Uehara T; Kosaki K
Brain Dev; 2018 Apr; 40(4):343-347. PubMed ID: 29273277
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]
