Results 101 to 110 of about 2,659 (169)

National survey of Hutchinson-Gilford progeria syndrome and progeroid laminopathy in Japan. [PDF]

Aging (Albany NY)
Okawa Y, Matsuo M, Kosaki R, Tonoki H, Fujimoto M, Ozono K, Saitou H, Kubota T, Ohata Y, Namba N, Akaboshi S, Komaki H, Inagaki N, Kato E, Maruo Y, Yonekawa T, Nakamura T, Hayashi K, Miwa S, Magota M, Ihara K.   +20 more
europepmc   +1 more source

Family history of sudden cardiac death as a risk marker for ventricular arrhythmias in laminopathies. [PDF]

Europace
Giordano G, Proukhnitzky J, Fer F, Bloch A, Thuillot M, Maupain C, Magnin-Poull I, Jonveaux I, Palmyre A, Bertinotti A, Mansencal N, de Chillou C, Richard P, Gandjbakhch E, Charron P.   +14 more
europepmc   +1 more source

Precise gene editing of pathogenic Lamin A mutations corrects cardiac disease. [PDF]

Proc Natl Acad Sci U S A
Caravia XM, Hayashi B, Li H, Gan P, Alzhanov D, Tan W, Chen K, McAnally JR, Xu L, Liu N, Olson EN.   +10 more
europepmc   +1 more source

Mitotic dynamics of the nuclear lamina in the backstage of chromosome separation. [PDF]

Commun Biol
Picotto J, Bertrand P, Pennarun G.
europepmc   +1 more source

Lamin: guardian against DNA damage by transcription stress. [PDF]

Cardiovasc Res
Jahng JWS, Wu JC.
europepmc   +1 more source

External controls for rare disease drug development: Lessons for emerging and advanced therapeutic modalities. [PDF]

Mol Ther Adv
Hughes SH, Beretich LA, Fuller M, Goodspeed K, Penn M, Valentino LA, McCombs C.   +6 more
europepmc   +1 more source

Epidemiology of paediatric inherited arrhythmogenic diseases under "Real World" conditions: findings from a 10-year longitudinal study in Eastern Austria. [PDF]

Eur J Pediatr
Albinni S, Heno J, Gwechenberger M, Michel-Behnke I, Gass M, Marx M.   +5 more
europepmc   +1 more source

Reciprocated tachycardias in cardiac laminopathy: a clinical case report. [PDF]

Eur Heart J Case Rep
Zhelyakov E, Sonicheva-Paterson N, Aleksandrova S, Tcivkovskii V, Ardashev A.   +4 more
europepmc   +1 more source

Genetically Confirmed Familial Case of Nonsyndromic Cardiac Progeria Caused by the <i>LMNA</i> p.Asp300Asn Variant with Presumed Gonadal Mosaicism: Phenotypic Comparison with Previously Reported Patients. [PDF]

Genes (Basel)
Nuzhnaya E, Sharova M, Chubykina U, Orlova A, Vorontsova E, Vasiliev P.   +5 more
europepmc   +1 more source

Progeroid features in a patient with Malouf syndrome due to a rare LMNA variant: a case report and review of the literature. [PDF]

Arch Endocrinol Metab
Pekmezci A, Gumus AA, Korkmaz OP.
europepmc   +1 more source