Results 271 to 280 of about 1,639,589 (408)

Mutations in GANAB, Encoding the Glucosidase IIα Subunit, Cause Autosomal-Dominant Polycystic Kidney and Liver Disease.

American Journal of Human Genetics, 2016
B. Porath, V. Gainullin, E. Cornec-Le Gall, Elizabeth K. Dillinger, C. M. Heyer, K. Hopp, Marie E. Edwards, Charles D. Madsen, Sarah R. Mauritz, Carly J Banks, S. Baheti, Bharathi V. Reddy, J. Herrero, J. Banales, M. Hogan, V. Tasic, T. Watnick, A. Chapman, C. Vigneau, F. Lavainne, M. Audrézet, C. Férec, Y. Le Meur, V. Torres, P. Harris   +24 more
semanticscholar   +1 more source

Brain glucose utilisation in a patient with "athymhormia" from a family with autosomal dominant parkinsonism and psychic disturbances. [PDF]

, 1994
F. Le Doze, Jean‐Claude Baron, Rose Marie, Francis Eustache, B Lechevalier, C Schupp, Jean Marcel Travère, M C Petit-Taboue   +7 more
openalex   +1 more source

Connectome-based predictive modeling of brain pathology and cognition in autosomal dominant Alzheimer's disease. [PDF]

Alzheimers Dement
Tripathi V, Fox-Fuller J, Malotaux V, Baena A, Felix NB, Alvarez S, Aguillon D, Lopera F, Somers DC, Quiroz YT.   +9 more
europepmc   +1 more source

Autosomal dominant Alport syndrome linked to the type IV collage 3 and 4 genes (COL4A3 and COL4A4) [PDF]

, 1997
J. Ashley Jefferson, Henny H. Lemmink, A Hughes, Claire Hill, H. Smeets, C. Doherty, Alexander P. Maxwell   +6 more
openalex   +1 more source

STARDEV Study: Neurodevelopmental Trajectory and Long‐Term Outcomes of Patients with Startle Disease/Hyperekplexia

Movement Disorders Clinical Practice, EarlyView.
Abstract Background Although initial clinical presentation of hyperekplexia/startle disease is well known, data regarding long‐term clinical outcomes is lacking. Objectives We provide a long‐term evaluation from clinical and pharmacological perspectives, focusing on neurodevelopmental trajectory. Methods Twenty‐eight patients from nine French hospitals
Diane Pina, Agathe Roubertie, Marie‐Aude Spitz, Claudia Ravelli, Nadia Bahi‐Buisson, Farha Gheurbi, Marion Buchy, Thomas Loppinet, Nicole Chemaly‐Perin, Marie‐Christine Nougues, Benedicte Heron, Regis Lopez, Mathieu Anheim, Mélanie Fradin, Claude Cances, Justine Avez‐Couturier, Fabienne Dalmon, Gaëtan Lesca, Vincent Des Portes, Laurence Lion‐François   +19 more
wiley   +1 more source

Autosomal-dominant polycystic kidney disease (ADPKD): executive summary from a Kidney Disease: Improving Global Outcomes (KDIGO) Controversies Conference.

Kidney International, 2015
A. Chapman, O. Devuyst, K. Eckardt, R. Gansevoort, T. Harris, S. Horie, B. Kasiske, Dwight Odland, Y. Pei, R. Perrone, Y. Pirson, R. Schrier, R. Torra, V. Torres, T. Watnick, D. Wheeler   +15 more
semanticscholar   +1 more source

Autosomal dominant retinitis pigmentosa: a new multi-allelic marker (D3S621) genetically linked to the disease locus (RP4) [PDF]

, 1995
Rajendra Kumar‐Singh, DanielG. Bradley, G. Jane Farrar, Mark Lawler, SiobhanA. Jordan, Peter Humphries   +5 more
openalex   +1 more source

Chromosome 1 localization of a gene for autosomal dominant medullary cystic kidney disease [PDF]

, 1998
Kyproula Christodoulou
openalex   +1 more source

Hereditary Spastic Paraplegia in Alberta: Lessons from a Well‐Defined Cohort Including the Indigenous Population

Movement Disorders Clinical Practice, EarlyView.
Abstract Background Hereditary spastic paraplegias (HSP) are rare disorders sharing common features of leg spasticity with gait impairment. Simple and complex forms are recognized; over 50% of cases remain unsolved genetically. Little is known about the genetics of HSP among Indigenous Peoples. Objectives To describe clinical, radiological, and genetic
Ekhlas Assaedi, Setareh Ashtiani, Mehrdad A. Estiar, Ziv Gan‐Or, Erica D. McKenzie, Aakash Shetty, Guy Rouleau, Oksana Suchowersky   +7 more
wiley   +1 more source

On the probability that kidneys are different in autosomal dominant polycystic disease

, 1992
Kenneth D. Gardner, Janet S. Burnside, Betty J. Skipper, Suzanne K. Swan, William M. Bennett, Bret A. Connors, Andrew P. Evan   +6 more
openalex   +1 more source