Johanna Palmio - Tampere University Hospital, University of Tampere

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论文共 163 篇作者统计合作学者相似作者

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Novel SCN4A Variants Associated with Myalgic Myotonic Disorder or Paramyotonia

Vesa Periviita,Roope Männikkö,Manu Jokela,Richa Sud, Michael G Hanna,Bjarne Udd,Johanna Palmio

European journal of neurologyno. 5 (2025): e70157-e70157

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Characterization of Severe COL6-related Dystrophy Due to the Recurrent Variant COL6A1 C.930+189c>t

A Reghan Foley, Véronique Bolduc,Fady Guirguis,Sandra Donkervoort,Ying Hu,Rotem Orbach, Riley M McCarty,Apurva Sarathy,Gina Norato,Beryl B Cummings,Monkol Lek,Anna Sarkozy,Russell J Butterfield,Janbernd Kirschner,Andrés Nascimento,Daniel Natera-de Benito,Susana Quijano-Roy,Tanya Stojkovic,Luciano Merlini, Giacomo Comi, Monique Ryan,Denise McDonald, Pinki Munot,Grace Yoon, Edward Leung,Erika Finanger, Meganne E Leach, James Collins,Cuixia Tian,Payam Mohassel, Sarah B Neuhaus,Dimah Saade, Benjamin T Cocanougher, Mary-Lynn Chu,Mena Scavina,Carla Grosmann,Randal Richardson, Brian D Kossak, Sidney M Gospe,Vikram Bhise, Gita Taurina,Baiba Lace,Monica Troncoso,Mordechai Shohat,Adel Shalata, Sophelia H S Chan,Manu Jokela,Johanna Palmio,Göknur Haliloğlu,Cristina Jou,Corine Gartioux,Herimela Solomon-Degefa, Carolin D Freiburg,Alvise Schiavinato,Haiyan Zhou, Sara Aguti, Yoram Nevo,Ichizo Nishino, Cecilia Jimenez-Mallebrera,Shireen R Lamandé, Valérie Allamand,Francesca Gualandi,Alessandra Ferlini,Daniel G MacArthur,Steve D Wilton,Raimund Wagener,Enrico Bertini,Francesco Muntoni, Carsten G Bönnemann

Brain a journal of neurology (2025)

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Heterozygous Loss-of-function Variants in SPTAN1 Cause an Early Childhood Onset Distal Myopathy

Jonathan De Winter,Liedewei Van de Vondel, Biljana Ermanoska, Alice Monticelli,Arnaud Isapof,Enzo Cohen,Tanya Stojkovic,Peter Hackman,Mridul Johari,Johanna Palmio,Megan A Waldrop,Alayne P Meyer,Stefan Nicolau,Kevin M Flanigan,Ana Töpf,Jordi Diaz-Manera,Volker Straub,Cheryl Longman, Catherine A McWilliam,Rotem Orbach,Sumit Verma, Regina Laine,Sandra Donkervoort,Carsten G Bonnemann,Adriana Rebelo,Stephan Züchner,Tiffany Grider,Michael E Shy,Isabelle Maystadt,Florence Demurger,Anita Cairns, Sarah Beecroft,Chiara Folland, Willem De Ridder,Gina Ravenscroft,Gisèle Bonne,Bjarne Udd,Jonathan Baets

Genetics in medicine official journal of the American College of Medical Genetics（2025）

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The recurrent deep intronic pseudoexon-inducing variant COL6A1 c.930+189C>T results in a consistently severe phenotype of COL6-related dystrophy: Towards clinical trial readiness for splice-modulating therapy

A Reghan Foley,Véronique Bolduc,Fady Guirguis,Sandra Donkervoort,Ying Hu,Rotem Orbach,Riley M McCarty,Apurva Sarathy,Gina Norato,Beryl B Cummings,Monkol Lek,Anna Sarkozy,Russell J Butterfield,Janbernd Kirschner,Andrés Nascimento,Daniel Natera-de Benito,Susana Quijano-Roy,Tanya Stojkovic,Luciano Merlini,Giacomo Comi,Monique Ryan,Denise McDonald,Pinki Munot,Grace Yoon,Edward Leung,Erika Finanger,Meganne E Leach,James Collins,Cuixia Tian,Payam Mohassel,Sarah B Neuhaus,Dimah Saade,Benjamin T Cocanougher, Mary-Lynn Chu,Mena Scavina,Carla Grosmann,Randal Richardson, Brian D Kossak,Sidney M Gospe,Vikram Bhise,Gita Taurina,Baiba Lace,Monica Troncoso,Mordechai Shohat,Adel Shalata,Sophelia H S Chan,Manu Jokela,Johanna Palmio,Göknur Haliloğlu,Cristina Jou,Corine Gartioux,Herimela Solomon-Degefa,Carolin D Freiburg,Alvise Schiavinato,Haiyan Zhou,Sara Aguti,Yoram Nevo,Ichizo Nishino,Cecilia Jimenez-Mallebrera,Shireen R Lamandé,Valérie Allamand,Francesca Gualandi,Alessandra Ferlini,Daniel G MacArthur,Steve D Wilton,Raimund Wagener,Enrico Bertini,Francesco Muntoni,Carsten G Bönnemann

medRxiv : the preprint server for health sciences（2024）

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Myosin ATPase Inhibition Fails to Rescue the Metabolically Dysregulated Proteome of Nebulin-Deficient Muscle

Jenni Laitila,Robert A. E. Seaborne,Natasha Ranu,Justin S. Kolb,Carina Wallgren-Pettersson,Nanna Witting,John Vissing,Juan Jesus Vilchez,Edmar Zanoteli,Johanna Palmio,Sanna Huovinen,Henk Granzier,Julien Ochala

The Journal of Physiology（2024）

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Muscle MRI-phenotyping of Patients with Likely Pathogenic Anoctamin 5 Variants

N. Poulsen,J. Palmio,M. Jokela,K. Claeys, L. Iterbeke,J. De Bleecker, E. De Vos,C. Dominguez-Gonzalez, L. Bermejo-Guerrero,N. Muelas,J. Vilchez,A. Gonzalez-Chamorro,J. Diaz-Manera,V. Straub,C. Straathof,E. Niks,N. Voermans, D. Cameron,J. Vissing

NEUROMUSCULAR DISORDERS (2024)

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652P Muscle MRI-phenotyping of Patients with Likely Pathogenic Anoctamin 5 Variants

N. Poulsen,J. Palmio,M. Jokela,K. Claeys, L. Iterbeke,J. De Bleecker, E. De Vos,C. Domínguez-González, L. Bermejo-Guerrero,N. Muelas,J. Vilchez,A. Gonzalez-Chamorro,J. Diaz-Manera,V. Straub,C. Straathof,E. Niks,N. Voermans, D. Cameron,J. Vissing

Neuromuscular Disorders (2024): 104441.178

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The Shared Ancestry Between the C9orf72 Hexanucleotide Repeat Expansion and Intermediate-Length Alleles Using Haplotype Sharing Trees and HAPTK

Osma S. Rautila,Karri Kaivola, Harri Rautila,Laura Hokkanen,Jyrki Launes,Timo E. Strandberg,Hannu Laaksovirta,Johanna Palmio,Pentti J. Tienari

AMERICAN JOURNAL OF HUMAN GENETICS（2024）

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Homozygosity of a Founder Variant C.1508dupc in DOK7 Causes Congenital Myasthenia with Variable Severity

Johanna Palmio,Panu Kiviranta,Paivi H. Hartikainen,Pirjo Isohanni,Mari Auranen, Karoliina Videman,Sini Penttila,Sara Lehtinen, Jarkko Kirjavainen, Susanna Hintikka, Katriina Paloviita,Janna Saarela,Bjarne Udd

NEUROLOGY-GENETICSno. 3 (2024)

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