All individuals with variants in gene AFG3L2

46 entries on 1 page. Showing entries 1 - 46.
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00111176 - PubMed: Di Bella 2010 - - - - - - - - - - - 1 8 Jacopo Celli
00111177 - PubMed: Di Bella 2010 - - - - - - - - - - - 1 1 Jacopo Celli
00111178 - PubMed: Di Bella 2010 - - - - - - - - - - - 1 1 Jacopo Celli
00111179 - PubMed: Di Bella 2010 - - - - - - - - - - - 1 2 Jacopo Celli
00111180 - PubMed: Di Bella 2010 - - - - - - - - - - - 1 245 Jacopo Celli
00111181 - PubMed: Di Bella 2010 - - - - - - - - - - - 1 1 Jacopo Celli
00111182 - PubMed: Di Bella 2010 - - - - - - - - - - - 1 18 Jacopo Celli
00111183 - PubMed: Di Bella 2010 - - - - - - - - - - - 1 1 Jacopo Celli
00111184 - PubMed: Di Bella 2010 - - - - - - - - - - - 1 1 Jacopo Celli
00111185 - PubMed: Di Bella 2010 - - - - - - - - - - - 1 3 Jacopo Celli
00111186 - PubMed: Di Bella 2010 - - - - - - - - - - - 1 96 Jacopo Celli
00111187 - PubMed: Di Bella 2010 - - - - - - - - - - - 1 54 Jacopo Celli
00111188 - PubMed: Di Bella 2010 - - - - - - - - - - - 1 6 Jacopo Celli
00111189 - PubMed: Di Bella 2010 - - - - - - - - - - - 1 1 Jacopo Celli
00111190 - PubMed: Di Bella 2010 - - - - - - - - - - - 1 1 Jacopo Celli
00111191 - PubMed: Cagnoli 2006 4-generation family, 14 affecteds (6F, 8M) F - - - - - - - SCA28 - 1 14 Jacopo Celli
00111192 - PubMed: Di Bella 2010 3-generation family, 8 affecteds (4F, 4M) - - - - - - - - SCA28 ADCA type 1 phenotype 1 8 Jacopo Celli
00111193 - PubMed: Di Bella 2010 3-generation family, 2 affecteds (2M) - - - - - - - - SCA28 - 1 2 Jacopo Celli
00111194 - PubMed: Di Bella 2010 2-generation family, 2 affecteds (2M) - - - - - - - - SCA28 - 1 2 Jacopo Celli
00111195 - PubMed: Di Bella 2010 fully symptomatic index patient F - - - - - - - SCA28 - 1 1 Jacopo Celli
00111196 - PubMed: Di Bella 2010 mother of MI-A0762 F - - - - - - - - - 1 1 Jacopo Celli
00111197 - PubMed: Di Bella 2010 maternal uncle of MI-A0762 M - - - - - - - - - 1 1 Jacopo Celli
00111198 - PubMed: Di Bella 2010 - - - - - - - - - SCA possibly autosomal recessive 1 1 Johan den Dunnen
00111199 Pat25 PubMed: van de Warrenburg 2016, Journal: van de Warrenburg 2016 - M - Netherlands - - - - - SPG motor neuropathy, ID, mild ataxia 1 1 Erik-Jan Kamsteeg
00291909 - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - - - - ? - 1 2 Mohammed Faruq
00291910 - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - - - - ? - 1 37 Mohammed Faruq
00301408 - - - F - (Germany) - - - - - ? Ataxia (HP:0001251); Cerebellar atrophy (HP:0001272) 1 1 IMGAG
00301410 - - - M - (Germany) - - - - - ? Ataxia (HP:0001251) 1 1 IMGAG
00314845 - - - M - - - - - - - ? Dystonia (HP:0001332) 1 1 Andreas Laner
00319861 - - - F - - - - - - - ? Ataxia (HP:0001251) 1 1 IMGAG
00374647 S-2544 PubMed: Ganapathy 2019 - - - India - - - - - ? - 1 1 Johan den Dunnen
00408678 Pat54 PubMed: Thomas 2022 patient, affected father and paternal grandmother - no France - - - - - ? - 1 3 Johan den Dunnen
00408702 Pat03 PubMed: Thomas 2022 - - - France - - - - - ? - 2 1 Johan den Dunnen
00447579 OAK-802 PubMed: Weisschuh 2024 patient, no family history F - Germany - - - - - ? - 1 1 Johan den Dunnen
00455787 Pat27 PubMed: Salinas 2020 patient F - - - - - - - ? - 1 1 Johan den Dunnen
00455841 Pat81 PubMed: Salinas 2020 patient M - - - - - - - ? - 1 1 Johan den Dunnen
00459012 NEI_328 PubMed: Wen 2023 2-generation family, 1 affected, unaffected parents M - United States African-American - - - - retinal disease see paper; ..., cone-rod dystrophy 1 1 Johan den Dunnen
00461150 F009P010II-1 PubMed: Zheng 2024 - M - China - - - - - OPA see paper; ..., insidous onset; best corrected visual acuity (first visit) OD 0.15/OS 0.15; fundus oculi (first visit) OD temporal pallor/OS temporal pallor; OCT OD temporal thinning/OS temporal thinning; visual field OD -3,87/OS -0,59; electrophysiology mildly reduced (rod/cone); 1 1 Johan den Dunnen
00461151 F010P011II-1 PubMed: Zheng 2024 - F - China - - - - - OPA see paper; ..., insidous onset; best corrected visual acuity (first visit) OD 0.05/OS 0.05; fundus oculi (first visit) OD temporal pallor/OS temporal pallor; visual field OD -10,58/OS -13,04; flash visual evoked potentials PL, DA (OD/OS); 1 1 Johan den Dunnen
00461152 F011P012II-1 PubMed: Zheng 2024 - M - China - - - - - OPA see paper; ..., insidous onset; best corrected visual acuity (first visit) OD finger count/OS finger count; fundus oculi (first visit) OD diffuse pale optic disc/OS diffuse pale optic disc; 1 1 Johan den Dunnen
00461153 F012P013II-2 PubMed: Zheng 2024 - F - China - - - - - OPA see paper; ..., congenital; fundus oculi (first visit) OD diffuse pale optic disc, ARV/OS diffuse pale optic disc, ARV; electrophysiology moderately reduced (rod/cone); wandering movement, bilateral nystagmus; developmental delay, hypotonia 1 1 Johan den Dunnen
00461154 F013P014II-1 PubMed: Zheng 2024 - M - China - - - - - OPA see paper; ..., insidous onset; best corrected visual acuity (first visit) OD 0.15/OS 0.15; fundus oculi (first visit) OD diffuse pale optic disc/OS diffuse pale optic disc; 1 1 Johan den Dunnen
00461155 F014P015II-1 PubMed: Zheng 2024 - F - China - - - - - OPA see paper; ..., insidous onset; best corrected visual acuity (first visit) OD 0.1/OS 0.12; fundus oculi (first visit) OD diffuse pale optic disc/OS diffuse pale optic disc; OCT OD temporal thinning/OS temporal thinning; 1 1 Johan den Dunnen
00461156 F015P016II-1 PubMed: Zheng 2024 - M - China - - - - - OPA see paper; ..., congenital; best corrected visual acuity (first visit) OD 0.1/OS 0.1; fundus oculi (first visit) OD temporal pallor, SP, IP/OS temporal pallor, SP, IP; OCT OD temporal thinning/OS temporal thinning; 1 1 Johan den Dunnen
00461157 F016P017II-1 PubMed: Zheng 2024 - M - China - - - - - OPA see paper; ..., insidous onset; best corrected visual acuity (first visit) OD 0.1/OS 0.1; fundus oculi (first visit) OD diffuse pale optic disc/OS diffuse pale optic disc; OCT OD diffuse thinning/OS diffuse thinning; electrophysiology normal (rod/cone); optic atrophy; 1 1 Johan den Dunnen
00466420 342754 - - M no Germany - - - - - SCA28 Upper limb postural tremor, Tremor, Fatigue, Gait imbalance 1 1 Andreas Laner
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