Results 91 to 100 of about 493 (108)

Identification of de novo variants in KCTD10 as a proposed cause for multiple congenital anomalies. [PDF]

HGG Adv
Morrow MM, Torti E, McGivern B, Gates R, Bekheirnia MR, Bekheirnia N, Folk L, Holtrop S, Palculict TB, Redlich OL, Reich A, Guillen Sacoto MJ, Shi L, Wentzensen IM, McWalter K.   +14 more
europepmc   +1 more source

Pediatric onset neuronal ceroid lipofuscinoses: Unraveling clinical and genetic specifications. [PDF]

Pak J Med Sci
Ahdi SG, Alvi JR, Ashfaq A, Sultan T.
europepmc   +1 more source

KCTD7: a new substrate-specific adaptor for Cul3 involved in Progressive Myoclonic Epilepsy

, 2010
S Correale, L Pirone, S Di Gaetano, E Pedone, G Smaldone, L Zaccaro, C Pedone, L Vitagliano, I De Paola   +8 more
core  

Immune transcriptomic differences in paediatric patients with SARS-CoV-2 compared to other lower respiratory tract infections

Kitaba NT, Workman L, Cohen C, Baralle D, Kong E, Botha M, Johnson M, Goldblatt D, Nicol MP, Holloway JW, Zar HJ.   +10 more
europepmc   +1 more source

Novel mutations consolidate KCTD7 as a progressive myoclonus epilepsy gene

Journal of Medical Genetics, 2012
Background The progressive myoclonus epilepsies (PMEs) comprise a group of clinically and genetically heterogeneous disorders characterised by myoclonus, epilepsy, and neurological deterioration.
Verneri Anttila, Hannu Kalimo, Outi Kopra   +2 more
exaly   +3 more sources

Progressive Myoclonic Epilepsy-Associated Gene KCTD7 is a Regulator of Potassium Conductance in Neurons

Molecular Neurobiology, 2011
The potassium channel tetramerization domain-containing protein 7 (KCTD7) was named after the structural homology of its predicted N-terminal broad complex, tramtrack and bric à brac/poxvirus and zinc finger domain with the T1 domain of the Kv potassium ...
Serge Schiffmann, Tristan Bouschet, Patrick van Bogaert   +2 more
exaly   +2 more sources

KCTD7‐related progressive myoclonus epilepsy

Epileptic Disorders, 2016
Progressive myoclonic epilepsy associated with KCTD7 mutations has been reported in 19 patients from 12 families. Patients show homozygous mutations in the coding regions of the KCTD7 gene. The disease starts in infancy.
Patrick van Bogaert
exaly   +2 more sources

A Homozygous Mutation in KCTD7 Links Neuronal Ceroid Lipofuscinosis to the Ubiquitin-Proteasome System [PDF]

American Journal of Human Genetics, 2012
Neuronal ceroid lipofuscinosis (NCL) is a genetically heterogeneous group of lysosomal diseases that collectively compose the most common Mendelian form of childhood-onset neurodegeneration.
Amel Karaa, Mark J Daly, Katherine Sims   +2 more
exaly   +2 more sources

Some of the next articles are maybe not open access.

Related searches:

Compound heterozygous KCTD7 variants in progressive myoclonus epilepsy

Journal of Neurogenetics, 2021
Raman Sood, Lynne A Wolfe, Laure Frésard   +2 more
exaly