Results 11 to 20 of about 308,350 (333)

Autosomal Dominant Alternating Hemiplegia

Pediatric Neurology Briefs, 1993
The familial occurrence and autosomal dominant inheritance of alternating hemiplegia of childhood is reported from Children’s Hospital, and Massachusetts General Hospital, Harvard Medical School, Boston.
J Gordon Millichap
doaj   +1 more source

Impaired Cleavage of Preproinsulin Signal Peptide Linked to Autosomal-Dominant Diabetes [PDF]

, 2012
Recently, missense mutations upstream of preproinsulin’s signal peptide (SP) cleavage site were reported to cause mutant INS gene-induced diabetes of youth (MIDY).
Arvan, Peter, Barbetti, Fabrizio, Guo, Huan, Haataja, Leena, Lara-Lemus, Roberto, Larkin, Dennis, Liu, Ming, Shan, Shu-ou, Wright, Jordan   +8 more
core   +1 more source

Autosomal Dominant Juvenile Amyotrophic LS

Pediatric Neurology Briefs, 1999
The clinical and electrodiagnostic findings in 49 affected family members and neuropathological findings from two autopsies of a Maryland kindred with autosomal dominant juvenile amyotrophic lateral sclerosis (ALS) are reported from Johns Hopkins ...
J Gordon Millichap
doaj   +1 more source

SNRNP200 Mutations Cause Autosomal Dominant Retinitis Pigmentosa

Frontiers in Medicine, 2021
The small nuclear ribonucleoprotein 200 kDa (SNRNP200) gene plays a key role in the maturation of pre-message RNA (pre-mRNA) splicing with the indication for the etiology of retinitis pigmentosa (RP).
Tao Zhang, Tao Zhang, Jingshan Bai, Jingshan Bai, Xinyi Zhang, Xinyi Zhang, Xiaowei Zheng, Xiaowei Zheng, Nan Lu, Zhongyin Liang, Ling Lin, Ling Lin, Yongsong Chen, Yongsong Chen   +13 more
doaj   +1 more source

Dominant‐negative variant in SLC1A4 causes an autosomal dominant epilepsy syndrome

Annals of Clinical and Translational Neurology, 2023
SLC1A4 is a trimeric neutral amino acid transporter essential for shuttling L‐serine from astrocytes into neurons. Individuals with biallelic variants in SLC1A4 are known to have spastic tetraplegia, thin corpus callosum, and progressive microcephaly ...
Jonai Pujol‐Giménez, Ghayda Mirzaa, Elizabeth E. Blue, Giuseppe Albano, Danny E. Miller, Aimee Allworth, James T. Bennett, Peter H. Byers, Sirisak Chanprasert, Jingheng Chen, Daniel Doherty, Andrew B. Folta, Madelyn A. Gillentine, Ian Glass, Anne Hing, Martha Horike‐Pyne, Kathleen A. Leppig, Azma Parhin, Jane Ranchalis, Wendy H. Raskind, Elisabeth A. Rosenthal, Ulrike Schwarze, Sam Sheppeard, Samuel Strohbehn, Virginia P. Sybert, Andrew Timms, Mark Wener, University of Washington Center for Mendelian Genomics (UW‐CMG)a, Undiagnosed Diseases Network (UDN), Michael J. Bamshad, Fuki M. Hisama, Gail P. Jarvik, Katrina M. Dipple, Matthias A. Hediger, Andrew B. Stergachis   +33 more
doaj   +1 more source

Genetic heterogeneity in autosomal dominant optic atrophy [PDF]

, 2002
Purpose: Autosomal dominant optic atrophy is a hereditary optic neuropathy characterized by progressive visual loss in childhood, color vision anomalies, visual field defects and temporal pallor of the optic disc. This disease has been mapped to a 1.4 cM
Farah, Michel Eid, Maumenee, Irene Hussels, Sallum, Juliana Maria Ferraz   +2 more
core   +4 more sources

Management of Pain in Autosomal Dominant Polycystic Kidney Disease and Anatomy of Renal Innervation [PDF]

, 2015
Purpose Chronic pain is a prominent feature of autosomal dominant polycystic kidney disease that is difficult to treat and manage, often resulting in a decrease in quality of life.
Bacallao, Robert L., Bahler, Clinton D., Shumate, Ashley M., Sundaram, Chandru P., Tellman, Matthew W.   +4 more
core   +1 more source

Autism and mild epilepsy associated with a de novo missense pathogenic variant in the GTPase effector domain of DNM1

American Journal of Medical Genetics Part C: Seminars in Medical Genetics, EarlyView., 2023
Abstract Dynamin 1 is a GTPase protein involved in synaptic vesicle fission, which facilitates the exocytosis of neurotransmitters necessary for normal signaling. Pathogenic variants in the DNM1 gene are associated with intractable epilepsy, often manifested as infantile spasms at onset, developmental delay, and a movement disorder, and are located in ...
Davide Mei, Elena Parrini, Claudia Bianchini, Maria Luisa Ricci, Renzo Guerrini   +4 more
wiley   +1 more source

Incidental radiological finding of a renal tumour leading to the diagnosis of Birt-Hogg-Dubé syndrome [PDF]

, 2011
Birt-Hogg-Dubé (BHD) syndrome is a rare autosomal dominant condition characterised by benign tumours of the hair follicle, renal cancer, pulmonary cysts and spontaneous pneumothorax.
Dewilde, Dirk, HEYSE, CATHERINE, Lemmerling, Marc, Pauwels, Walter, Schreuer, Max, Verstraete, Koenraad   +5 more
core   +1 more source

Dual mTOR/PI3K inhibition limits PI3K-dependent pathways activated upon mTOR inhibition in autosomal dominant polycystic kidney disease [PDF]

, 2018
Autosomal dominant polycystic kidney disease (ADPKD) is characterized by the development of kidney cysts leading to kidney failure in adulthood. Inhibition of mammalian target of rapamycin (mTOR) slows polycystic kidney disease (PKD) progression in ...
Arcaro, Alexandre, Castelletti, Deborah, Fu, Xuebin, Liu, Yang, Mischak, Harald, Mullen, William, Pejchinovski, Martin, Serra, Andreas L., Siwy, Justyna, Wang, Xueqi, Watnick, Terry J.   +10 more
core   +2 more sources