Results 151 to 160 of about 46,422 (312)

Repeat Expansions with Small TTTCA Insertions in MARCHF6 Cause Familial Myoclonus without Epilepsy

Movement Disorders, EarlyView.
Abstract Background Familial adult myoclonus epilepsy (FAME) is a rare autosomal dominant disorder caused by the same intronic TTTTA/TTTCA repeat expansion in seven distinct genes. TTTTA‐only expansions are benign, whereas those containing TTTCA insertions are pathogenic.
Theresa Kühnel, Elsa Leitão, Renate Lunzer, Fabian Kilpert, Sabine Kaya, Claudia Del Gamba, Kelly Astudillo, Steven Frucht, Marion Simonetta‐Moreau, Eric Bieth, Iris Unterberger, Giulietta Maria Riboldi, Christel Depienne   +12 more
wiley   +1 more source

Author Response: High-dose Vitamin D may Have No Effect on Mortality in Vitamin D-deficient Pediatric ICU Patients because the Study Design is Inappropriate. [PDF]

Indian J Crit Care Med
Sakkarwal M, Pallavi P, Jhamb U, Saxena R.   +3 more
europepmc   +1 more source

Interictal acute psychoses in temporal lobe epilepsy during withdrawal of anticonvulsant therapy. [PDF]

, 1979
V. A. Sironi, Angelo Franzini, L. Ravagnati, F Marossero   +3 more
openalex   +1 more source

Treatment Patterns, Characteristics, and Probable Acute Medication Overprescription Among Patients With Migraine in Japan: A Retrospective Cross-Sectional and Longitudinal Analysis of Health Insurance Claims Data. [PDF]

Cureus
Katsuki M, Matsumori Y, Ichihara T, Yamada Y, Kaneko K, Kobayashi Y, Kawamura S, Kashiwagi K, Koh A, Goto T, Kaneko K, Wada N, Hanaoka Y, Yamagishi F.   +13 more
europepmc   +1 more source

3-Sulfamoylmethyl-l, 2-benzisoxazole, a new type of anticonvulsant drug: Pharmacological profile

, 1979
Yoshinobu Masuda, Tadahiko Karasawa, Yuko Shiraishi, Misako Hori, Kouichi Yoshida, Masanao Shimizu   +5 more
openalex   +1 more source

Targeting Histone H3K9 Methyltransferase G9a as a Potential Therapeutic Strategy for Neuropsychiatric Disorders

Medicinal Research Reviews, EarlyView.
ABSTRACT Neuropsychiatric disorders present a multifaceted challenge, characterized by cognitive, social, and motor impairments with manifold underlying mechanisms. Recent attention has turned to epigenetic mechanisms, particularly histone lysine methyltransferases (HKMTs), such as G9a, in understanding fundamental pathogenesis.
Malak Hajar, Tobias Werner, Mihajlo Gajic, Holger Stark, Bassem Sadek   +4 more
wiley   +1 more source

Macrocytosis in Down's syndrome and during long-term anticonvulsant therapy [PDF]

, 1970
R. D. Eastham, J. Jancar
openalex   +1 more source

Pain Experiences and Prescription Pain Medications Among People With Selected Muscular Dystrophies in the Muscular Dystrophy Surveillance, Tracking, and Research Network

Muscle &Nerve, EarlyView.
ABSTRACT Introduction/Aims Pain is a recognized symptom of muscular dystrophy (MD), but little is known about prescription pain medications in this population. We describe pain experiences and pain medications prescribed for individuals with selected MDs using population‐based surveillance data collected by the Muscular Dystrophy Surveillance, Tracking,
Jonathan Suhl, Kristin M. Conway, Shiny Thomas, Sonja A. Rasmussen, James F. Howard, Nicholas E. Johnson, Paul A. Romitti, Katherine D. Mathews, The Muscular Dystrophy Surveillance, Tracking and Research Network (MD STARnet)   +9 more
wiley   +1 more source

Long-term outcomes and radiation-induced complications following stereotactic radiosurgery for a left temporal arteriovenous malformation: illustrative case. [PDF]

J Neurosurg Case Lessons
Mansour MA, El-Salamoni MA, Mostafa HN.
europepmc   +1 more source

Serum anticonvulsant monitoring by liquid chromatography with a methanolic mobile phase. [PDF]

, 1979
David J. Freeman, N Rawal
openalex   +1 more source