Results 211 to 220 of about 157,517 (293)

Retinal Vessel Geometry and Retinal Abnormalities in Cerebral Autosomal Dominant Arteriopathy With Subcortical Infarcts and Leukoencephalopathy. [PDF]

Transl Vis Sci Technol
Zhang W, Zhou X, Liu J, Tian T, Guo Y, Ling C, Xu J, Wei Q, Liu Y, Wu Y.   +9 more
europepmc   +1 more source

Multiple Scalp and Neck Lesions in an 80‐Year‐Old Man

JEADV Clinical Practice, EarlyView.
Stephanie L. Ryan, Nicholas Stefanovic, Li J. H. Yoo, Richard Watchorn, Christian Gulmann, Gregg Murray   +5 more
wiley   +1 more source

Development and Preliminary Validation of a Parkinsonism‐Dystonia Scale for Infants and Young Children

Movement Disorders, EarlyView.
Abstract Background Parkinsonism in infancy is rare and is highly correlated with the presence of dystonia. Advances in treating and characterizing developmental and infantile degenerative parkinsonism have highlighted the need for a specialized assessment scale.
Roser Pons, Toni S. Pearson, Belen Perez‐Dueñas, Angels Garcia‐Cazorla, Manju A. Kurian, Zoi Dalivigka, Vasiliki Zouvelou, Chrysa Outsika, Eleftheria Kokkinou, Maria Sigatullina‐Bondarenko, Alejandra Darling, Maria del Mar O'Callaghan, Robert Spaull, Dora B.D. Steel, Evdokia Salamou, Maria João Forjaz, Carmen Rodriguez‐Blazquez   +16 more
wiley   +1 more source

Phenotype and genotype of autosomal dominant tubulointerstitial kidney disease in a Japanese cohort. [PDF]

Clin Exp Nephrol
Tanaka Y, Nagano C, Sakakibara N, Okada E, Aoyama S, Kimura Y, Inoki Y, Ichikawa Y, Ueda C, Kitakado H, Horinouchi T, Yamamura T, Ishimori S, Iijima K, Nozu K, Morisada N.   +15 more
europepmc   +1 more source

Three novel mutations of the PKD1 gene in Italian families with autosomal dominant polycystic kidney disease

, 1997
Alberto Turco, Sandro Rossetti, Elena Bresin, Sabine Englisch, Stefano Corrà, Pier Franco Pignatti   +5 more
openalex   +1 more source

Rare GNAO1 Variant Presenting with Deep Brain Stimulation‐Responsive Jaw‐Opening Dystonia

Movement Disorders Clinical Practice, EarlyView.
Fabian Maass, Saskia Biskup, Vesna Malinova, Christiane Weinrich, Christoph van Riesen   +4 more
wiley   +1 more source

EFNB3 Frameshift Variant in Weimaraner Dogs with a Condition Resembling a Congenital Mirror Movement Disorder

Movement Disorders, EarlyView.
ABSTRACT Background Congenital mirror movement disorders (CMMs) are clinically and genetically heterogeneous in human patients. CMMs have not been documented to occur spontaneously in animals. Objective The objective of this work was to document the first case of CMMs spontaneously occurring in Weimaraner dogs and to identify the underlying genetic ...
Cleo Schwarz, Florian Bartenschlager, Olivia Kershaw, Judith Braun, Julien Guevar, Vidhya Jagannathan, Jörg T. Epplen, Wencke Reineking, Wolfgang Baumgärtner, Kailash P. Bhatia, Achim D. Gruber, Tosso Leeb   +11 more
wiley   +1 more source

Familial Oculoauriculovertebral Spectrum: A Genomic Investigation of Autosomal Dominant Inheritance. [PDF]

Cleft Palate Craniofac J
Petrin AL, Machado-Paula LA, Hinkle A, Hovey L, Awotoye W, Chimenti M, Darbro B, Ribeiro-Bicudo LA, Dabdoub SM, Peter T, Breheny P, Murray JC, Van Otterloo E, Rengasamy Venugopalan S, Moreno-Uribe LM.   +14 more
europepmc   +1 more source

Deep Brain Stimulation Improves Symptoms in an Individual with Alpha‐Synuclein‐Gene‐Associated Parkinson's Disease

Movement Disorders Clinical Practice, EarlyView.
Abigail Braun, Dion Basson, Shahida Moosa, Jonathan Carr, Soraya Bardien, Riaan van Coller   +5 more
wiley   +1 more source

Early‐Onset Movement Disorder Syndrome Caused by Biallelic Variants in PDE1B Encoding Phosphodiesterase 1B

Movement Disorders, EarlyView.
Abstract Background Breakdown of cyclic adenosine monophosphate (cAMP) and cyclic guanosine monophosphate (cGMP) in basal ganglia cells through hydrolysis of diesteric bonds, primarily by PDE10A and PDE1B, is essential for normal human movement. While biallelic loss‐of‐function variants in PDE10A are known to cause hyperkinetic movement disorders, the ...
Tomer Poleg, Noam Hadar, Eyal Kristal, Nicola Y. Roberts, Vadim Dolgin, Ilana Aminov, Amit Safran, Nadav Agam, Matan Jean, Ofek Freund, Eamonn G. Sheridan, James A. Poulter, Michelle L. Thompson, Yusra Algoos, Salma Al‐Qahtani, Lama AlAbdi, Sateesh Maddirevula, Verity Hartill, Henry Houlden, Reza Maroofian, Amit Nahum, Ohad S. Birk   +21 more
wiley   +1 more source