Results 111 to 120 of about 1,270,049 (189)

Case Report: Three pathogenic molecular findings in a patient with myotonia congenita, pseudohypoparathyroidism, and a glaucoma-suspect phenotype. [PDF]

Front Endocrinol (Lausanne)
Mukhtar NN, Alturki D, Benito A, Alghamdi B, Alshehri A, Alzahrani AS.   +5 more
europepmc   +1 more source

Annual assessment of ECG intervals in patients with myotonic dystrophy type 1 using a mobile 6‑lead ECG device: TeleCheck-DM1. [PDF]

Int J Cardiol Heart Vasc
Bovenkerk DSH, La Fontaine LA, Hermans ANL, van Kuijk SMJ, Joosten IBT, Faber CG, Lankveld TAR, den Uijl D, Vernooy K, Hendriks JM, Linz D, Hermans BJM.   +11 more
europepmc   +1 more source

Undiagnosed Maternal Myotonic Dystrophy Type 1 Revealed by Congenital Myotonic Dystrophy in the Neonate. [PDF]

Cureus
Suzui R, Wada I, Matsubara M, Kataoka D.
europepmc   +1 more source

MRI-Determined Muscle Fat Fractions and Contractile Volumes in Myotonic Dystrophy Type 2. [PDF]

Muscle Nerve
Hinkley LM, Wagner KR, Jacobs MA, Leung DG.   +3 more
europepmc   +1 more source

Atypical Phenotype of Myotonic Dystrophy Type 1 with Variant Repeats at the Age of Diagnosis. [PDF]

Biology (Basel)
Radovanovic N, Pesovic J, Viric V, Andrejic N, Bozovic I, Brajuskovic G, Savic-Pavicevic D, Peric S.   +7 more
europepmc   +1 more source

Evaluating the performance of ChatGPT in responding to myotonic dystrophy type 1 patient inquiries: a specialist physician-based study. [PDF]

BMC Neurol
Çelik G, Hekim HH, Filiz MB, Toraman NF.   +3 more
europepmc   +1 more source

Exploring the impact of myotonia on daily functioning in myotonic dystrophy: a patient-reported survey. [PDF]

BMC Neurol
Sansone VA, Dang UJ, Edmondson L, Díaz-Manera J, Nikolenko N, Ashley EJ, Bassez G, Gagnon C, Montagnese F, Osman H, Tard C, Nowak U, Turner C, Zozulya-Weidenfeller A.   +13 more
europepmc   +1 more source

Successful Minimally Invasive Mitral Valve Repair and Maze Procedure in a Patient With Myotonic Dystrophy. [PDF]

Cureus
Kakiuchi T, Iwasaki R, Yamamoto T, Hori D.   +3 more
europepmc   +1 more source

DMPK 3' untranslated repeat expansions in unexplained sudden cardiac death in the young. [PDF]

Eur Heart J
Ward Z, O'Neill J, Stiles R, Phua HH, Burcher S, Earle N, Martin A, Mok JX, Crawford J, Eaton J, Hogan S, Worgan L, Gray B, Burns C, Donoghue T, Stiles MK, Yeates L, Print CG, Hayes I, Skinner JR, Bagnall RD, Le Quesne Stabej P.   +21 more
europepmc   +1 more source

Patient Preferences in Neuromuscular Diseases: Insights for Future Drug Development. [PDF]

JIMD Rep
Jimenez-Moreno AC, Blain A, Pinto CA, Soekhai V, Johansson JV, Dyer C, Adcock K, de Bekker-Grob EW, de Wit GA, Newman J, Gorman GS.   +10 more
europepmc   +1 more source