Results 211 to 220 of about 293,955 (289)

CRISPR Base Editing Correction of TGFBI Mutations in Autosomal Dominant Corneal Dystrophies. [PDF]

Invest Ophthalmol Vis Sci
Chen J, Davison CW, Ellis J, Blevins B, Presley W, Myers MT, Kong D, Hou Z, Mian SI, Prasov L, Zhang Y.   +10 more
europepmc   +1 more source

Bullae and Scales in a Newborn

JEADV Clinical Practice, EarlyView.
Hamad El Hajj, Dima Jeha, Andre Megarbane, Hala Megarbane   +3 more
wiley   +1 more source

Gait Adaptability Training Improves Gait in Spinocerebellar Ataxia Patients

Movement Disorders Clinical Practice, EarlyView.
Abstract Background Spinocerebellar ataxia (SCA) is a rare, genetic neurodegenerative movement disorder primarily affecting the cerebellum. So far, there is no available cure for SCA. However, evidence suggests that neurorehabilitation can alleviate symptoms.
Colette J.M. Reniers, Martin E. Johansson, Karen Huisman‐Venrooij, Ivan Toni, Vivian Weerdesteyn, Bart P.C. van de Warrenburg   +5 more
wiley   +1 more source

Hypertension in Autosomal Dominant Polycystic Kidney Disease

Saudi Journal of Kidney Diseases and Transplantation, 1999
Al-Khader Abdullah
doaj  

Early Stroke in a Young Male: Could it be Cerebral Autosomal Dominant Arteriopathy With Subcortical Infarcts and Leukoencephalopathy (CADASIL)? [PDF]

Cureus
Raj A, Ali S, Imran M, Chaman Lal K.
europepmc   +1 more source

Ultrasonographic Features of Spiradenomas and Cylindromas as Diagnostic Clues in the Pre‐Therapeutic Setting

JEADV Clinical Practice, EarlyView.
Diana Crisan, Tina Weiss, Karin Scharffetter‐Kochanek, Yusef Sallum, Ioana‐Ancuta Ungureanu, Maria Crisan   +5 more
wiley   +1 more source

Gait Alterations Due to DCC Gene Variants in Individuals with Congenital Mirror Movements

Movement Disorders Clinical Practice, EarlyView.
Abstract Background Congenital Mirror Movement Syndrome (CMMS) involves involuntary movements on one side of the body while voluntary movements are performed on the other side. They disrupt left–right coordination and can be caused by a pathogenic variant in the DCC gene.
Nok‐Yeung Law, Shanie Desrosiers, Sinthiya Sivanesan, Helga Tonkov, Frédéric Charron, Frédéric Bretzner, Myriam Srour, Dorothy Barthélemy   +7 more
wiley   +1 more source

Role of Mediterranean Diet Adherence on Endothelial Dysfunction in Autosomal Dominant Polycystic Kidney Disease Patients. [PDF]

Biomolecules
Salomone L, Menichelli D, Cammisotto V, Castellani V, Pastori D, Pignatelli P, Mitterhofer AP, Tinti F, Lai S.   +8 more
europepmc   +1 more source

An Open‐Label Phase 1b Study of the Safety, Pharmacokinetics, Pharmacodynamics, and Clinical Activity of ANX005 in Patients with Huntington's Disease

Movement Disorders, EarlyView.
Complement activation is implicated in Huntington's disease; ANX005 is a potent inhibitor of component C1q. ANX005 exhibited a generally manageable safety profile with rapid reduction in C1q in the cerebrospinal fluid. Functional ability on composite Unified Huntington's Disease Rating Scale and total functional capacity was maintained, with potential ...
Rajeev Kumar, Pinky Agarwal, Karen Anderson, Daniel Claassen, Marissa Dean, Andrew Duker, Burton Scott, Benjamin Hoehn, Ann Mongan, Ping Lin, Ellen Cahir‐McFarland, Lori Taylor, Glenn Morrison, Ted Yednock, Sanjay Keswani, Henk‐Andre Kroon   +15 more
wiley   +1 more source