1.
Mutations in CTC1, Encoding the CTS Telomere Maintenance Complex Component 1, Cause Cerebroretinal Microangiopathy with Calcifications and Cysts
by Polvi, Anne
American journal of human genetics, 2012-03-09, Vol.90 (3), p.540-549
2.
Novel mutations consolidate KCTD7 as a progressive myoclonus epilepsy gene
by Kousi, Maria
Journal of medical genetics, 2012-06, Vol.49 (6), p.391-399
3.
The Novel Neuronal Ceroid Lipofuscinosis Gene MFSD8 Encodes a Putative Lysosomal Transporter
by Siintola, Eija
American journal of human genetics, 2007, Vol.81 (1), p.136-146
4.
Cohen Syndrome Is Caused by Mutations in a Novel Gene, COH1, Encoding a Transmembrane Protein with a Presumed Role in Vesicle-Mediated Sorting and Intracellular Protein Transport
by Kolehmainen, Juha
American journal of human genetics, 2003, Vol.72 (6), p.1359-1369
5.
Mutations in a Novel Gene with Transmembrane Domains Underlie Usher Syndrome Type 3
by Joensuu, Tarja
American journal of human genetics, 2001, Vol.69 (4), p.673-684
6.
Sodium Channel SCN3A (NaV1.3) Regulation of Human Cerebral Cortical Folding and Oral Motor Development
by Smith, Richard S
Neuron (Cambridge, Mass.), 2018-09-05, Vol.99 (5), p.905-913.e7
7.
Biallelic Variants in UBA5 Link Dysfunctional UFM1 Ubiquitin-like Modifier Pathway to Severe Infantile-Onset Encephalopathy
by Muona, Mikko
American journal of human genetics, 2016-09-01, Vol.99 (3), p.683-694
8.
Delineation of Cohen Syndrome Following a Large-Scale Genotype-Phenotype Screen
by Kolehmainen, Juha
American journal of human genetics, 2004, Vol.75 (1), p.122-127
9.
Early Microglial Activation Precedes Neuronal Loss in the Brain of the Cstb−/− Mouse Model of Progressive Myoclonus Epilepsy, EPM1
by Tegelberg, Saara
Journal of neuropathology and experimental neurology, 2012-01, Vol.71 (1), p.40-53
10.
The TRIM37 Gene Encodes a Peroxisomal RING-B-Box-Coiled-Coil Protein: Classification of Mulibrey Nanism as a New Peroxisomal Disorder
by Kallijärvi, Jukka
American journal of human genetics, 2002-05, Vol.70 (5), p.1215-1228
11.
A Mutation in the Golgi Qb-SNARE Gene GOSR2 Causes Progressive Myoclonus Epilepsy with Early Ataxia
by Corbett, Mark A
American journal of human genetics, 2011-05-13, Vol.88 (5), p.657-663
12.
Mutations in Prickle Orthologs Cause Seizures in Flies, Mice, and Humans
by Tao, Hirotaka
American journal of human genetics, 2011, Vol.88 (2), p.138-149
13.
Severer Phenotype in Unverricht-Lundborg Disease (EPM1) Patients Compound Heterozygous for the Dodecamer Repeat Expansion and the c.202C>T Mutation in the CSTB Gene
by Koskenkorva, Päivi
Neuro-degenerative diseases, 2011-08, Vol.8 (6), p.515-522
14.
Two translocations of chromosome 15q associated with dyslexia
by Nopola-Hemmi, Jaana
Journal of Medical Genetics, 2000-10, Vol.37 (10), p.771-775
15.
Mutations in the GABA Transporter SLC6A1 Cause Epilepsy with Myoclonic-Atonic Seizures
by Carvill, Gemma L
American journal of human genetics, 2015-05-07, Vol.96 (5), p.808-815
16.
Carrier testing of children for two X linked diseases in a family based setting: a retrospective long term psychosocial evaluation
by Järvinen, Outi
Journal of medical genetics, 1999-08, Vol.36 (8), p.615-620
17.
Assignment of the Muscle-Eye-Brain Disease Gene to 1p32-p34 by Linkage Analysis and Homozygosity Mapping
by Cormand, Bru
American journal of human genetics, 1999, Vol.64 (1), p.126-135
18.
Aberrant Inclusion of a Poison Exon Causes Dravet Syndrome and Related SCN1A-Associated Genetic Epilepsies
by Carvill, Gemma L
American journal of human genetics, 2018-12-06, Vol.103 (6), p.1022-1029
19.
Sodium Channel SCN3A (Na(V)1.3) Regulation of Human Cerebral Cortical Folding and Oral Motor Development
by Smith, RS
Neuron (Cambridge, Mass.), 2018, Vol.99 (5), p.905-+
20.
Northern epilepsy syndrome: an inherited childhood onset epilepsy with associated mental deterioration
by Hirvasniemi, A
Journal of medical genetics, 1994-03, Vol.31 (3), p.177-182
