Results 281 to 290 of about 1,639,589 (408)

Identification of a New Autosomal Dominant Limb-Girdle Muscular Dystrophy Locus on Chromosome 7 [PDF]

, 1999
Marcy C. Speer, Jeffery M. Vance, Janet M. Grubber, Felicia L. Graham, Jeffrey M. Stajich, Kristi D. Viles, Allison R. Rogala, Robert McMichael, Jerry G. Chutkow, Claire Goldsmith, Richard W. Tim, Margaret A. Pericak-Vance   +11 more
openalex   +1 more source

Preserved Thermoregulation in Huntington's Disease: Insights from an Observational Case–Control Study

Movement Disorders Clinical Practice, EarlyView.
ABSTRACT Background Thermoregulation is critical for preventing hyperthermia during physical activity. In Huntington's disease (HD), research on possible thermoregulatory alterations has received little attention. Objectives We aimed to investigate and compare skin temperature differences before and after exercise between HD patients and healthy ...
Lucía Simón‐Vicente, Jéssica Rivadeneyra‐Posadas, María Soto‐Célix, Javier Raya‐González, Alejandro Rodríguez‐Fernández, Daniel Castillo‐Alvira, Fernando Vázquez, Esther Cubo   +7 more
wiley   +1 more source

Correction: Slowly progressive autosomal dominant Alport Syndrome due to COL4A3 splicing variant. [PDF]

Eur J Hum Genet
Daga S, Loberti L, Rollo G, Adamo L, Colavecchio OL, Brunelli G, Zguro K, Tripodi SA, Guarnieri A, Garosi G, D'Aurizio R, Ariani F, Tita R, Renieri A, Pinto AM.   +14 more
europepmc   +1 more source

Autosomal dominant Parkinson's disease caused by SNCA duplications.

Parkinsonism & Related Disorders, 2016
T. Konno, O. Ross, A. Puschmann, D. Dickson, Z. Wszolek   +4 more
semanticscholar   +1 more source

Inherited Nonsyndromic Hearing Loss: An Audiovestibular Study in a Large Family With Autosomal Dominant Progressive Hearing Loss Related to DFNA2 [PDF]

, 1997
Henri A. M. Marres, Marleen van Ewijk, P.L.M. Huygen, Henricus P. M. Kunst, Guy Van Camp, Paul Coucke, P J Willems, Cor W. R. J. Cremers   +7 more
openalex   +1 more source

Exploration of Neurodegenerative Diseases Using Long‐Read Sequencing and Optical Genome Mapping Technologies

Movement Disorders, EarlyView.
Abstract Genetic factors play a central role in neurodegenerative disorders. Over the past few decades, significant progress has been made in identifying the causative genes of numerous monogenic disorders, largely due to the widespread adoption of next‐generation sequencing (NGS) technologies in both research and clinical settings.
Guillaume Cogan, Kensuke Daida, Cornelis Blauwendraat, Kimberley Billingsley, Alexis Brice   +4 more
wiley   +1 more source

Echocardiographic characteristics of autosomal dominant polycystic kidney disease. [PDF]

Sci Rep
Koska-Ścigała A, Jankowska H, Jankowska M, Dudziak M, Hellmann M, Dębska-Ślizień A.   +5 more
europepmc   +1 more source

Effect of enalapril on blood pressure, renal function, and the renin-angiotensin-aldosterone system in cats with autosomal dominant polycystic kidney disease [PDF]

, 1999
Rita H. Miller, Linda B. Lehmkuhl, Daniel D. Smeak, Stephen P. DiBartola, Judith Radin   +4 more
openalex   +1 more source

Novel In‐Frame FGF14 Deletion Causes Spinocerebellar Ataxia Type 27A: Clinical Response to Deep Brain Stimulation and 4‐Aminopyridine

Movement Disorders, EarlyView.
Abstract Background Spinocerebellar ataxia 27A (SCA27A) is a rare neurodegenerative disorder characterized by childhood‐onset tremor and progressive cerebellar dysfunction. SCA27A is usually caused by loss‐of‐function FGF14 variants. Objectives We report the identification of a novel FGF14 variant in a five‐generation family with autosomal dominant ...
Ignacio J. Keller Sarmiento, Roberta Bovenzi, Morgan Kinsinger, Lisa Kinsley, Bernabe I. Bustos, Dimitri Krainc, Niccolò E. Mencacci   +6 more
wiley   +1 more source

Autosomal Dominant Hyper-IgE Syndrome in the USIDNET Registry.

Journal of Allergy and Clinical Immunology: In Practice, 2017
Y. Gernez, A. Freeman, S. Holland, E. Garabedian, N. Patel, J. Puck, K. Sullivan, J. Akhter, E. Secord, Karin Chen, R. Buckley, E. Haddad, H. Ochs, R. Fuleihan, J. Routes, M. Muskat, P. Lugar, J. Mancini, C. Cunningham-Rundles   +18 more
semanticscholar   +1 more source