J Stavusis

Affiliations

Latvian Biomedical Research and Study Center, Riga, Latvia.

Publications (12)

Novel mutations in MYBPC1 are associated with myogenic tremor and mild myopathy.

Annals of neurology

Avec: Janis Stavusis , Baiba Lace , Jochen Schäfer , Janelle Geist , Inna Inashkina , Dita Kidere , Sander Pajusalu , Nathan T Wright , Annika Saak , Manja Weinhold , Dietrich Haubenberger , Sandra Jackson , Aikaterini Kontrogianni-Konstantopoulos , Carsten G Bönnemann

EAST/SeSAME syndrome: Review of the literature and introduction of four new Latvian patients.

Clinical genetics

Avec: M Celmina , I Micule , I Inashkina , M Audere , S Kuske , J Pereca , J Stavusis , D Pelnena , J Strautmanis

Impact of the m.13513G>A Variant on the Functions of the OXPHOS System and Cell Retrograde Signaling.

Current issues in molecular biology

Avec: Dita Kidere , Pawel Zayakin , Diana Livcane , Marina Makrecka-Kuka , Janis Stavusis , Baiba Lace , Tsu-Kung Lin , Chia-Wei Liou , Inna Inashkina

Sarcomeric deficits underlie MYBPC1-associated myopathy with myogenic tremor.

JCI insight

Avec: Janelle Geist Hauserman , Janis Stavusis , Humberto C Joca , Joel C Robinett , Laurin Hanft , Jack Vandermeulen , Runchen Zhao , Joseph P Stains , Konstantinos Konstantopoulos , Kerry S McDonald , Christopher Ward , Aikaterini Kontrogianni-Konstantopoulos

Monogenic Versus Multifactorial Inheritance in the Development of Isolated Cleft Palate: A Whole Genome Sequencing Study.

Frontiers in genetics

Avec: Baiba Lace , Sander Pajusalu , Diana Livcane , Ieva Grinfelde , Ilze Akota , Ieva Mauliņa , Biruta Barkāne , Janis Stavusis , Inna Inashkina

Mutations in PIGB Cause an Inherited GPI Biosynthesis Defect with an Axonal Neuropathy and Metabolic Abnormality in Severe Cases.

American journal of human genetics

Avec: Yoshiko Murakami , Thi Tuyet Mai Nguyen , Nissan Baratang , Praveen K Raju , Alexej Knaus , Sian Ellard , Gabriela Jones , Baiba Lace , Justine Rousseau , Norbert Fonya Ajeawung , Atsushi Kamei , Gaku Minase , Manami Akasaka , Nami Araya , Eriko Koshimizu , Jenneke van den Ende , Florian Erger , Janine Altmüller , Zita Krumina , Jurgis Strautmanis , Inna Inashkina , Janis Stavusis , Areeg El-Gharbawy , Jessica Sebastian , Ratna Dua Puri , Samarth Kulshrestha , Ishwar C Verma , Esther M Maier , Tobias B Haack , Anil Israni , Julia Baptista , Adam Gunning , Jill A Rosenfeld , Pengfei Liu , Marieke Joosten , María Eugenia Rocha , Mais O Hashem , Hesham M Aldhalaan , Fowzan S Alkuraya , Satoko Miyatake , Naomichi Matsumoto , Peter M Krawitz , Elsa Rossignol , Taroh Kinoshita , Philippe M Campeau

Case Report: Two Families With

Frontiers in genetics

Avec: Ieva Micule , Baiba Lace , Nathan T Wright , Nicolas Chrestian , Jurgis Strautmanis , Mikus Diriks , Janis Stavusis , Dita Kidere , Elfa Kleina , Anna Zdanovica , Nataly Laflamme , Nadie Rioux , Samarth Thonta Setty , Sander Pajusalu , Arnaud Droit , Monkol Lek , Serge Rivest , Inna Inashkina

CAPN3 c.1746-20C>G variant is hypomorphic for LGMD R1 calpain 3-related.

Human mutation

Avec: Magdalena Mroczek , Inna Inashkina , Janis Stavusis , Pawel Zayakin , Andrey Khrunin , Ieva Micule , Victorija Kenina , Anna Zdanovica , Jana Zídková , Lenka Fajkusová , Svetlana Limborska , Anneke J van der Kooi , Esther Brusse , Lea Leonardis , Ales Maver , Sander Pajusalu , Katrin Õunap , Sanna Puusepp , Paula Dobosz , Mateusz Sypniewski , Birute Burnyte , Baiba Lace

Sarcomeric myopathies associated with tremor: new insights and perspectives.

Journal of muscle research and cell motility

Avec: Janis Stavusis , Janelle Geist , Aikaterini Kontrogianni-Konstantopoulos

The Fetal Phenotype of Noonan Syndrome Caused by Severe, Cancer-Related PTPN11 Variants.

The American journal of case reports

Avec: Ieva Malniece , Adele Grasmane , Inna Inashkina , Janis Stavusis , Madara Kreile , Edvins Miklasevics , Linda Gailite

Collagen VI-related limb-girdle syndrome caused by frequent mutation in COL6A3 gene with conflicting reports of pathogenicity.

Neuromuscular disorders : NMD

Avec: Janis Stavusis , Ieva Micule , Nathan T Wright , Volker Straub , Ana Topf , Luísa Panadés-de Oliveira , Cristina Domínguez-González , Inna Inashkina , Dita Kidere , Nicolas Chrestian , Baiba Lace

Overview of Neuromuscular Disorder Molecular Diagnostic Experience for the Population of Latvia.

Neurology. Genetics

Avec: Baiba Lace , Ieva Micule , Viktorija Kenina , Signe Setlere , Jurgis Strautmanis , Inese Kazaine , Gita Taurina , Daiga Murmane , Ieva Grinfelde , Liene Kornejeva , Zita Krumina , Olga Sterna , Ilze Radovica-Spalvina , Inta Vasiljeva , Linda Gailite , Janis Stavusis , Diana Livcane , Dita Kidere , Ieva Malniece , Inna Inashkina

Réseau de co-auteurs

Janis Stavusis 11 collaborations

Inna Inashkina 9 collaborations

Baiba Lace 8 collaborations

Dita Kidere 5 collaborations

Sander Pajusalu 4 collaborations

Ieva Micule 4 collaborations

Nathan T Wright 3 collaborations

Aikaterini Kontrogianni-Konstantopoulos 3 collaborations

Diana Livcane 3 collaborations

Jurgis Strautmanis 3 collaborations

Janelle Geist 2 collaborations

Pawel Zayakin 2 collaborations

Ieva Grinfelde 2 collaborations

Zita Krumina 2 collaborations

Nicolas Chrestian 2 collaborations

Anna Zdanovica 2 collaborations

Ieva Malniece 2 collaborations

Linda Gailite 2 collaborations

Jochen Schäfer 1 collaboration

Annika Saak 1 collaboration

Manja Weinhold 1 collaboration

Dietrich Haubenberger 1 collaboration

Sandra Jackson 1 collaboration

Carsten G Bönnemann 1 collaboration

M Celmina 1 collaboration

I Micule 1 collaboration

I Inashkina 1 collaboration

M Audere 1 collaboration

S Kuske 1 collaboration

J Pereca 1 collaboration

D Pelnena 1 collaboration

J Strautmanis 1 collaboration

Marina Makrecka-Kuka 1 collaboration

Tsu-Kung Lin 1 collaboration

Chia-Wei Liou 1 collaboration

Janelle Geist Hauserman 1 collaboration

Humberto C Joca 1 collaboration

Joel C Robinett 1 collaboration

Laurin Hanft 1 collaboration

Jack Vandermeulen 1 collaboration

Runchen Zhao 1 collaboration

Joseph P Stains 1 collaboration

Konstantinos Konstantopoulos 1 collaboration

Kerry S McDonald 1 collaboration

Christopher Ward 1 collaboration

Ilze Akota 1 collaboration

Ieva Mauliņa 1 collaboration

Biruta Barkāne 1 collaboration

Yoshiko Murakami 1 collaboration

Thi Tuyet Mai Nguyen 1 collaboration

Nissan Baratang 1 collaboration

Praveen K Raju 1 collaboration

Alexej Knaus 1 collaboration

Sian Ellard 1 collaboration

Gabriela Jones 1 collaboration

Justine Rousseau 1 collaboration

Norbert Fonya Ajeawung 1 collaboration

Atsushi Kamei 1 collaboration

Gaku Minase 1 collaboration

Manami Akasaka 1 collaboration

Nami Araya 1 collaboration

Eriko Koshimizu 1 collaboration

Jenneke van den Ende 1 collaboration

Florian Erger 1 collaboration

Janine Altmüller 1 collaboration

Areeg El-Gharbawy 1 collaboration

Jessica Sebastian 1 collaboration

Ratna Dua Puri 1 collaboration

Samarth Kulshrestha 1 collaboration

Ishwar C Verma 1 collaboration

Esther M Maier 1 collaboration

Tobias B Haack 1 collaboration

Anil Israni 1 collaboration

Julia Baptista 1 collaboration

Adam Gunning 1 collaboration

Jill A Rosenfeld 1 collaboration

Pengfei Liu 1 collaboration

Marieke Joosten 1 collaboration

María Eugenia Rocha 1 collaboration

Mais O Hashem 1 collaboration

Hesham M Aldhalaan 1 collaboration

Fowzan S Alkuraya 1 collaboration

Satoko Miyatake 1 collaboration

Naomichi Matsumoto 1 collaboration

Peter M Krawitz 1 collaboration

Elsa Rossignol 1 collaboration

Taroh Kinoshita 1 collaboration

Philippe M Campeau 1 collaboration

Mikus Diriks 1 collaboration

Elfa Kleina 1 collaboration

Nataly Laflamme 1 collaboration

Nadie Rioux 1 collaboration

Samarth Thonta Setty 1 collaboration

Arnaud Droit 1 collaboration

Monkol Lek 1 collaboration

Serge Rivest 1 collaboration

Magdalena Mroczek 1 collaboration

Andrey Khrunin 1 collaboration

Victorija Kenina 1 collaboration

Jana Zídková 1 collaboration

Lenka Fajkusová 1 collaboration

Svetlana Limborska 1 collaboration

Anneke J van der Kooi 1 collaboration

Esther Brusse 1 collaboration

Lea Leonardis 1 collaboration

Ales Maver 1 collaboration

Katrin Õunap 1 collaboration

Sanna Puusepp 1 collaboration

Paula Dobosz 1 collaboration

Mateusz Sypniewski 1 collaboration

Birute Burnyte 1 collaboration

Adele Grasmane 1 collaboration

Madara Kreile 1 collaboration

Edvins Miklasevics 1 collaboration

Volker Straub 1 collaboration

Ana Topf 1 collaboration

Luísa Panadés-de Oliveira 1 collaboration

Cristina Domínguez-González 1 collaboration

Viktorija Kenina 1 collaboration

Signe Setlere 1 collaboration

Inese Kazaine 1 collaboration

Gita Taurina 1 collaboration

Daiga Murmane 1 collaboration

Liene Kornejeva 1 collaboration

Olga Sterna 1 collaboration

Ilze Radovica-Spalvina 1 collaboration

Inta Vasiljeva 1 collaboration