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Biallelic variants in TMEM222 cause a new autosomal recessive neurodevelopmental disorder.

Autor: Polla DL; Department of Human Genetics, Donders Institute for Brain, Cognition and Behavior, Radboud University Medical Center, Nijmegen, The Netherlands.; CAPES Foundation, Ministry of Education of Brazil, Brasília, Brazil., Farazi Fard MA; Persian BayanGene Research and Training Center, Shiraz University of Medical Sciences, Shiraz, Fars, Iran., Tabatabaei Z; Persian BayanGene Research and Training Center, Shiraz University of Medical Sciences, Shiraz, Fars, Iran., Habibzadeh P; Persian BayanGene Research and Training Center, Shiraz University of Medical Sciences, Shiraz, Fars, Iran., Levchenko OA; Research Centre for Medical Genetics, Moscow, Russia., Nikuei P; Molecular Medicine Research Center, Hormozgan Health Institute, Hormozgan University of Medical Sciences, Bandar Abbas, Iran., Makrythanasis P; Department of Genetic Medicine and Development, University of Geneva Medical School, Geneva, Switzerland.; Biomedical Research Foundation Academy of Athens, Athens, Greece., Hussain M; Department of Human Genetics, Donders Institute for Brain, Cognition and Behavior, Radboud University Medical Center, Nijmegen, The Netherlands., von Hardenberg S; Department of Human Genetics, Hannover Medical School, Hanover, Germany., Zeinali S; Department of Molecular Medicine, Biotechnology Research Center, Pasteur Institute of Iran, Tehran, Iran., Fallah MS; Department of Medical Genetics, Kawsar Human Genetics Research Center, Tehran, Iran., Schuurs-Hoeijmakers JHM; Department of Human Genetics, Donders Institute for Brain, Cognition and Behavior, Radboud University Medical Center, Nijmegen, The Netherlands., Shahzad M; Department of Otorhinolaryngology Head & Neck Surgery, School of Medicine, University of Maryland, Baltimore, MD, USA.; Department of Molecular Biology, Shaheed Zulfiqar Ali Bhutto Medical University, Islamabad, Pakistan.; Jinnah Burn and Reconstructive Surgery Center, Allama Iqbal Medical Research Center, University of Health Sciences, Lahore, Pakistan., Fatima F; Center for Excellence in Molecular Biology, University of Punjab, Lahore, Pakistan., Fatima N; Center for Excellence in Molecular Biology, University of Punjab, Lahore, Pakistan., Kaat LD; Department of Clinical Genetics, Erasmus MC, University Medical Center Rotterdam, Rotterdam, the Netherlands., Bruggenwirth HT; Department of Clinical Genetics, Erasmus MC, University Medical Center Rotterdam, Rotterdam, the Netherlands., Fleming LR; St. Luke's Children's Genetics and Metabolic Clinic, Boise, ID, USA., Condie J; St Luke's Pediatric Neurology Clinic, Boise, ID, USA., Ploski R; Department of Medical Genetics, Warsaw Medical University, Warsaw, Poland., Pollak A; Department of Medical Genetics, Warsaw Medical University, Warsaw, Poland., Pilch J; Department of Pediatric Neurology, Medical University of Silesia, Katowice, Poland., Demina NA; Research Centre for Medical Genetics, Moscow, Russia., Chukhrova AL; Research Centre for Medical Genetics, Moscow, Russia., Sergeeva VS; Research Centre for Medical Genetics, Moscow, Russia., Venselaar H; Center for Molecular and Biomolecular Informatics, Radboud Institute for Molecular Life Sciences, Radboud University Medical Center, Nijmegen, The Netherlands., Masri AT; Faculty of Medicine, Pediatric Department Division of Child Neurology, The University of Jordan, Amman, Jordan., Hamamy H; Department of Genetic Medicine and Development, University of Geneva Medical School, Geneva, Switzerland., Santoni FA; Department of Genetic Medicine and Development, University of Geneva Medical School, Geneva, Switzerland.; Department of Endocrinology Diabetes and Metabolism, Lausanne University Hospital, Lausanne, Switzerland., Linda K; Department of Human Genetics, Donders Institute for Brain, Cognition and Behavior, Radboud University Medical Center, Nijmegen, The Netherlands., Ahmed ZM; Department of Otorhinolaryngology Head & Neck Surgery, School of Medicine, University of Maryland, Baltimore, MD, USA., Nadif Kasri N; Department of Human Genetics, Donders Institute for Brain, Cognition and Behavior, Radboud University Medical Center, Nijmegen, The Netherlands., de Brouwer APM; Department of Human Genetics, Donders Institute for Brain, Cognition and Behavior, Radboud University Medical Center, Nijmegen, The Netherlands., Bergmann AK; Department of Human Genetics, Hannover Medical School, Hanover, Germany., Hethey S; Department of Neuropediatrics, Children's and Youth Hospital Auf der Bult, Hanover, Germany., Yavarian M; Persian BayanGene Research and Training Center, Shiraz University of Medical Sciences, Shiraz, Fars, Iran., Ansar M; Department of Genetic Medicine and Development, University of Geneva Medical School, Geneva, Switzerland.; Institute of Molecular and Clinical Ophthalmology Basel, Basel, Switzerland., Riazuddin S; Department of Otorhinolaryngology Head & Neck Surgery, School of Medicine, University of Maryland, Baltimore, MD, USA., Riazuddin S; Department of Molecular Biology, Shaheed Zulfiqar Ali Bhutto Medical University, Islamabad, Pakistan.; Jinnah Burn and Reconstructive Surgery Center, Allama Iqbal Medical Research Center, University of Health Sciences, Lahore, Pakistan., Silawi M; Persian BayanGene Research and Training Center, Shiraz University of Medical Sciences, Shiraz, Fars, Iran., Ruggeri G; Center for Integrative Brain Research, Seattle Children's Research Institute, Seattle, WA, USA., Pirozzi F; Center for Integrative Brain Research, Seattle Children's Research Institute, Seattle, WA, USA., Eftekhar E; Molecular Medicine Research Center, Hormozgan Health Institute, Hormozgan University of Medical Sciences, Bandar Abbas, Iran., Taghipour Sheshdeh A; Persian BayanGene Research and Training Center, Shiraz University of Medical Sciences, Shiraz, Fars, Iran., Bahramjahan S; Persian BayanGene Research and Training Center, Shiraz University of Medical Sciences, Shiraz, Fars, Iran., Mirzaa GM; Center for Integrative Brain Research, Seattle Children's Research Institute, Seattle, WA, USA.; Department of Pediatrics, University of Washington, Seattle, WA, USA.; Brotman Baty Institute for Precision Medicine, Seattle, WA, USA., Lavrov AV; Research Centre for Medical Genetics, Moscow, Russia., Antonarakis SE; Department of Genetic Medicine and Development, University of Geneva Medical School, Geneva, Switzerland.; Medigenome, Swiss Institute of Genomic Medicine, Geneva, Switzerland., Faghihi MA; Persian BayanGene Research and Training Center, Shiraz University of Medical Sciences, Shiraz, Fars, Iran.; Department of Psychiatry & Behavioral Sciences, Hussman Institute for Human Genomics, University of Miami, Miami, FL, USA., van Bokhoven H; Department of Human Genetics, Donders Institute for Brain, Cognition and Behavior, Radboud University Medical Center, Nijmegen, The Netherlands. Hans.vanbokhoven@radboudumc.nl.

Publikováno v: Genetics in medicine : official journal of the American College of Medical Genetics [Genet Med] 2021 Jul; Vol. 23 (7), pp. 1246-1254. Date of Electronic Publication: 2021 Apr 06.

A new case of infantile-onset hereditary spastic paraplegia with complicated phenotype (SPG61) in a consanguineous Russian family.

Autor: Chukhrova AL; Federal State Budgetary Institution, Research Centre for Medical Genetics, Moscow, Russian Federation., Akimova IA; Federal State Budgetary Institution, Research Centre for Medical Genetics, Moscow, Russian Federation., Shchagina OA; Federal State Budgetary Institution, Research Centre for Medical Genetics, Moscow, Russian Federation., Kadnikova VA; Federal State Budgetary Institution, Research Centre for Medical Genetics, Moscow, Russian Federation., Ryzhkova OP; Federal State Budgetary Institution, Research Centre for Medical Genetics, Moscow, Russian Federation., Polyakov AV; Federal State Budgetary Institution, Research Centre for Medical Genetics, Moscow, Russian Federation.

Publikováno v: European journal of neurology [Eur J Neurol] 2019 May; Vol. 26 (5), pp. e61-e62.

[Modern opportunities and prospects for studying pathogenesis, diagnosing and treating hereditary optic neuropathies].

Autor: Sheremet NL, Khanakova NA, Nevinitsyna TA, Tsygankova PG, Itkis IuS, Krylova TD, Loginova AN, Chukhrova AL, Venkova LS, Svistunova DM, Chernoivanenko IS, Zakharova EIu, Poliakov AV, Minin AA

Publikováno v: Vestnik oftalmologii [Vestn Oftalmol] 2014 Nov-Dec; Vol. 130 (6), pp. 62-70.

[Morphological changes in retina and optic nerve head in patients with Leber's hereditary optic neuropathy].

Autor: Avetisov SE, Sheremet NL, Fomin AV, Galoian NS, Khanakova NA, Zhorzholadze NV, Loginova AN, Chukhrova AL, Poliakov AV

Publikováno v: Vestnik oftalmologii [Vestn Oftalmol] 2014 Jan-Feb; Vol. 130 (1), pp. 4-8, 10-1.