Results 81 to 90 of about 1,459,190 (233)

From Interferon Signature to the Clinical Landscape: Type I Interferonopathies

Arthritis &Rheumatology, EarlyView.
Objective TypeI interferonopathies are heterogeneous diseases driven by dysregulated type I interferon (IFN‐I) signaling. Diagnosis is challenging due to clinical/molecular variability and the need for IFN‐I quantification. The aim of this study was to characterize the clinical, immunologic, genetic, molecular profiles of patients with suspected ...
Ismail Yaz, Seza Ozen, Hacer Neslihan Bildik, Canberk Ipsir, Dilara Unal, Saliha Esenboga, Begum Cicek, Mehmet Emin Seker, Fatima Aerts‐Kaya, Seher Sener, Mehmet Orhan Erkan, Hanife Avci, Deniz Cagdas, Ilhan Tezcan   +13 more
wiley   +1 more source

OPA1 mutations and mitochondrial DNA haplotypes in autosomal dominant optic atrophy [PDF]

Genetics in Medicine, 2006
Autosomal dominant optic atrophy is a form of blindness, due in part to mutations affecting the mitochondrial-targeted OPA1 gene product. Both OPA1-positive and OPA1-negative families exhibit variable expressivity and incomplete penetrance. The purpose of this study was therefore to determine if the background mtDNA genotype acts as a genetic modifier ...
Jian, Han, Angela J, Thompson-Lowrey, Alyson, Reiss, Vladimir, Mayorov, Haomiao, Jia, Valerie, Biousse, Nancy J, Newman, Michael D, Brown   +7 more
openaire   +2 more sources

Secretopathies emerge as a new class of neurocristopathies

Developmental Dynamics, EarlyView.
Abstract Neural crest cells are a transient embryonic population of cells that give rise to a wide range of structures, including craniofacial cartilage and bone, peripheral neurons and glia, as well as components of the cardiac outflow tract, among others.
Amanda Teixeira, Cassandra Millet‐Boureima, Joshua A. Moore, Loydie A. Jerome‐Majewska   +3 more
wiley   +1 more source

Urinary proteomic biomarkers for diagnosis and risk stratification of autosomal dominant polycystic kidney disease: a multicentric study [PDF]

, 2013
Treatment options for autosomal dominant polycystic kidney disease (ADPKD) will likely become available in the near future, hence reliable diagnostic and prognostic biomarkers for the disease are strongly needed.
Torres, Vicente E., Poster, D., Andreas D. Kistler, Fabienne Krauer, Kistler Andreas D., Grantham, J.J., Serra, AL, Grantham, Jared J, James E. Bost, Mischak Harald, Bost, J.E., Bost James E., Arlene B Chapman, Chapman, AB, Mrug, M., Wüthrich Rudolf P., Grantham Jared J., Justyna Siwy (103595), Andreas L. Serra (103592), Arlene B. Chapman (103480), Diane Poster (36083), Justyna Siwy, Poster Diane, Bost, James E., Rudolf P. Wüthrich (103623), Krauer, F., Torres, V.E., Mischak, Harald, Serra Andreas L., Wüthrich, Rudolf P, Wüthrich, RP, Kyongtae T. Bae, Bae, KT, James E. Bost (103618), Kistler, AD, Poster, Diane, Siwy, J., Michal Mrug (103606), Grantham, JJ, Bae, Kyongtae T., Serra, Andreas L, Grantham, Jared J., Vicente E. Torres, Torres Vicente E., Mullen, W., Chapman, Arlene B., Bae, Kyongtae T, Fabienne Krauer (103598), Bae, K.T., Bost, James E, Chapman Arlene B., Jared J Grantham, Mullen, W, Vicente E. Torres (103602), Mullen, William, Mrug, M, Andreas D Kistler, Kyongtae T Bae, Siwy, Justyna, Krauer, F, Mischak, H., Mrug, Michal, Wüthrich, Rudolf P., Torres, Vicente E, Andreas L Serra, Harald Mischak (103627), Jared J. Grantham (103610), Krauer, Fabienne, Bost, JE, Rudolf P. Wüthrich, Mrug Michal, Diane Poster, Wuethrich, Rudolf P., Serra, Andreas L., Serra, A.L., William Mullen (103621), William Mullen, Chapman, A.B., Vicente E Torres, Chapman, Arlene B, James E Bost, Mischak, H, Jared J. Grantham, Siwy Justyna, Andreas L. Serra, Kyongtae T. Bae (103614), Wüthrich, R.P., Michal Mrug, Kistler, Andreas D., Poster, D, Krauer Fabienne, Siwy, J, Mullen William, Kistler, A.D., Harald Mischak, Arlene B. Chapman, Torres, VE, Andreas D. Kistler (103588), Bae Kyongtae T., Bae, Kyong Tae, Rudolf P Wüthrich, Kistler, Andreas D   +101 more
core   +2 more sources

Visual Prognosis in Autosomal Dominant Optic Atrophy (Kjer Type)

American Journal of Ophthalmology, 1993
We examined 25 patients from three pedigrees with dominant optic atrophy (Kjer type). Follow-up on 20 patients ranged from five to 40 years (mean, 16 years; median, 13 years). Visual acuity ranged from 20/20 (in one 58-year-old man with an affected father and three affected children) to 20/400. The median initial visual acuity was 20/60, and the median
D, Eliott, E I, Traboulsi, I H, Maumenee
openaire   +2 more sources

OPA1 mutations in patients with autosomal dominant optic atrophy and evidence for semi-dominant inheritance [PDF]

Human Molecular Genetics, 2001
We and others have shown recently that mutations in the OPA1 gene encoding a dynamin-related mitochondrial protein cause autosomal dominant optic atrophy (ADOA) linked to chromosome 3q28-q29. Here we report screening of the OPA1 gene in a sample of 78 independent ADOA families.
U E, Pesch, B, Leo-Kottler, S, Mayer, B, Jurklies, U, Kellner, E, Apfelstedt-Sylla, E, Zrenner, C, Alexander, B, Wissinger   +8 more
openaire   +2 more sources

Reflex seizures and epilepsy surgery: A network approach case‐based exploration

Epileptic Disorders, EarlyView.
Abstract Context Reflex seizures (RS) are defined by their consistent provocation by specific stimuli, encompassing a broad range from elementary sensory inputs to complex cognitive tasks. While RS are often encountered in clinical practice, their surgical management remains sparsely reported and poorly systematized.
Olivier Aron, Laure Salmon, Nicolas Nguyen, Dènahin Toffa, Sami Obaid, Alexis Robin, Dang Khoa Nguyen   +6 more
wiley   +1 more source

Electroclinical phenotypes—genetic characterization of developmental and epileptic encephalopathies in a cohort study

Epileptic Disorders, EarlyView.
Abstract Objective Developmental and epileptic encephalopathies (DEEs) are characterized by refractory seizures and frequently recurring epileptic activity with neurodevelopmental delay or regression that usually begin in early life. We aimed to define the relationship between electroclinical features and etiology, as well as the genotype–phenotype ...
Burcu Yaman, Fulya Kurekci, Sinan Akbas, Ceyda Oney, Mehmet Akif Kilic, Hulya Maras Genc, Ayca Dilruba Aslanger, Edibe Pembegul Yildiz   +7 more
wiley   +1 more source

KBG syndrome: A scoping review of electroclinical features of patients with epilepsy

Epileptic Disorders, EarlyView.
Abstract Background and Objectives KBG syndrome is a rare autosomal developmental disorder caused by pathogenic variants of the ANKRD11 gene. This scoping review aimed to explore all current literature data regarding clinical and electroencephalographic features of patients with KBG syndrome and epilepsy. Materials and Methods We conducted a literature
Stefania Kalampokini, Evripidis Pityrigkas, Zoi Kallia, Georgia Pepe, Antonis Frontistis, Dimitrios Profer, Vasilios Kimiskidis   +6 more
wiley   +1 more source

Mean PP differential sensitivity values measured by MP1 comparing Autosomal-Dominant Optic Atrophy (ADOA) and Control Subjects.

, 2018
Mean PP differential sensitivity values measured by MP1 comparing Autosomal-Dominant Optic Atrophy (ADOA) and Control Subjects.
Roberto Pietro Sorge (3897154), Andrea Cusumano (424006), Barbara Garavaglia (3448151), Elena Ciuffoletti (3897157), Eleonora Lamantea (3897148), Francesco Brancati (294036), Massimo Cesareo (3897160), Carlo Nucci (442290), Jacopo Sebastiani (3897145), Federico Ricci (423997), Alessio Martucci (3897151)   +10 more
core   +1 more source