Search the collection

28 results for Palmio,+Johanna

Sort by:

Sort by

Limit results to:

20 per page

28 results for Palmio,+Johanna

Export to excel

Export record to excel

File type to download

Beta version

Export this record
Export to excel
Print
Export record to excel
File type to download
Beta version
Select record 1
ArticlesPeer ReviewedFull Text
Mutations affecting the cytoplasmic functions of the co-chaperone DNAJB6 cause limb-girdle muscular dystrophy
Author / Creator:Sarparanta, Jaakko ; Jonson, Per Harald ; Golzio, Christelle ; Sandell, Satu ; Luque, Helena ; Screen, Mark ; McDonald, Kristin ; Stajich, Jeffrey M ; Mahjneh, Ibrahim ; Vihola, Anna ; Raheem, Olayinka ; Penttilä, Sini ; Lehtinen, Sara ; Huovinen, Sanna ; Palmio, Johanna ; Tasca, Giorgio ; Ricci, Enzo ; Hackman, Peter ; Hauser, Michael ; Katsanis, Nicholas ; Udd, Bjarne
Publisher:New York: Nature Publishing Group US
Journal title:Nature genetics, 2012-04, Vol.44 (4), p.450-455
View online as a Library member
Access ebook if you are in the Library. Registered NSW residents may log in from home.
Export this record
Export to excel
Print
Export record to excel
File type to download
Beta version
Select record 2
ArticlesPeer ReviewedFull Text
Distinct Muscle Biopsy Findings in Genetically Defined Adult-Onset Motor Neuron Disorders
Author / Creator:Jokela, Manu ; Huovinen, Sanna ; Raheem, Olayinka ; Lindfors, Mikaela ; Palmio, Johanna ; Penttilä, Sini ; Udd, Bjarne
Publisher:United States: Public Library of Science
Journal title:PloS one, 2016-03, Vol.11 (3), p.e0151376-e0151376
View online as a Library member
Access ebook if you are in the Library. Registered NSW residents may log in from home.
Export this record
Export to excel
Print
Export record to excel
File type to download
Beta version
Select record 3
ArticlesPeer ReviewedFull Text
A novel FLNC frameshift and an OBSCN variant in a family with distal muscular dystrophy
Author / Creator:Rossi, Daniela ; Palmio, Johanna ; Evilä, Anni ; Galli, Lucia ; Barone, Virginia ; Caldwell, Tracy A ; Policke, Rachel A ; Aldkheil, Esraa ; Berndsen, Christopher E ; Wright, Nathan T ; Malfatti, Edoardo ; Brochier, Guy ; Pierantozzi, Enrico ; Jordanova, Albena ; Guergueltcheva, Velina ; Romero, Norma Beatriz ; Hackman, Peter ; Eymard, Bruno ; Udd, Bjarne ; Sorrentino, Vincenzo
Publisher:United States: Public Library of Science
Journal title:PloS one, 2017-10, Vol.12 (10), p.e0186642-e0186642
View online as a Library member
Access ebook if you are in the Library. Registered NSW residents may log in from home.
Export this record
Export to excel
Print
Export record to excel
File type to download
Beta version
Select record 4
ArticlesPeer ReviewedFull Text
Expanding the importance of HMERF titinopathy: new mutations and clinical aspects
Author / Creator:Palmio, Johanna ; Leonard-Louis, Sarah ; Sacconi, Sabrina ; Savarese, Marco ; Penttilä, Sini ; Semmler, Anna-Lena ; Kress, Wolfram ; Mozaffar, Tahseen ; Lai, Tim ; Stojkovic, Tanya ; Berardo, Andres ; Reisin, Ricardo ; Attarian, Shahram ; Urtizberea, Andoni ; Cobo, Ana Maria ; Maggi, Lorenzo ; Kurbatov, Sergei ; Nikitin, Sergei ; Milisenda, José C. ; Fatehi, Farzad ; Raimondi, Monika ; Silveira, Fernando ; Hackman, Peter ; Claeys, Kristl G. ; Udd, Bjarne
Publisher:Berlin/Heidelberg: Springer Berlin Heidelberg
Journal title:Journal of neurology, 2019-03, Vol.266 (3), p.680-690
View online as a Library member
Access ebook if you are in the Library. Registered NSW residents may log in from home.
Export this record
Export to excel
Print
Export record to excel
File type to download
Beta version
Select record 5
ArticlesPeer ReviewedFull Text
Targeted Next-Generation Sequencing Reveals Novel TTN Mutations Causing Recessive Distal Titinopathy
Author / Creator:Evilä, Anni ; Palmio, Johanna ; Vihola, Anna ; Savarese, Marco ; Tasca, Giorgio ; Penttilä, Sini ; Lehtinen, Sara ; Jonson, Per Harald ; De Bleecker, Jan ; Rainer, Peter ; Auer-Grumbach, Michaela ; Pouget, Jean ; Salort-Campana, Emmanuelle ; Vilchez, Juan J. ; Muelas, Nuria ; Olive, Montse ; Hackman, Peter ; Udd, Bjarne
Publisher:New York: Springer US
Journal title:Molecular neurobiology, 2017-11, Vol.54 (9), p.7212-7223
View online as a Library member
Access ebook if you are in the Library. Registered NSW residents may log in from home.
Export this record
Export to excel
Print
Export record to excel
File type to download
Beta version
Select record 6
ArticlesPeer ReviewedFull Text
NEB mutations disrupt the super-relaxed state of myosin and remodel the muscle metabolic proteome in nemaline myopathy
Author / Creator:Ranu, Natasha ; Laitila, Jenni ; Dugdale, Hannah F ; Mariano, Jennifer ; Kolb, Justin S ; Wallgren-Pettersson, Carina ; Witting, Nanna ; Vissing, John ; Vilchez, Juan Jesus ; Fiorillo, Chiara ; Zanoteli, Edmar ; Auranen, Mari ; Jokela, Manu ; Tasca, Giorgio ; Claeys, Kristl G ; Voermans, Nicol C ; Palmio, Johanna ; Huovinen, Sanna ; Moggio, Maurizio ; Beck, Thomas Nyegaard ; Kontrogianni-Konstantopoulos, Aikaterini ; Granzier, Henk ; Ochala, Julien
Publisher:England: BioMed Central Ltd
Journal title:Acta neuropathologica communications, 2022-12, Vol.10 (1), p.185-185, Article 185
View online as a Library member
Access ebook if you are in the Library. Registered NSW residents may log in from home.
Export this record
Export to excel
Print
Export record to excel
File type to download
Beta version
Select record 7
ArticlesPeer ReviewedFull Text
Diagnostically important muscle pathology in DNAJB6 mutated LGMD1D
Author / Creator:Sandell, Satu ; Huovinen, Sanna ; Palmio, Johanna ; Raheem, Olayinka ; Lindfors, Mikaela ; Zhao, Fang ; Haapasalo, Hannu ; Udd, Bjarne
Publisher:England: BioMed Central Ltd
Journal title:Acta neuropathologica communications, 2016-02, Vol.4 (10), p.9-9, Article 9
View online as a Library member
Access ebook if you are in the Library. Registered NSW residents may log in from home.
Export this record
Export to excel
Print
Export record to excel
File type to download
Beta version
Select record 8
ArticlesPeer ReviewedFull Text
Ubiquitin carboxy-terminal hydrolase L1 (UCH-L1) is increased in cerebrospinal fluid and plasma of patients after epileptic seizure
Author / Creator:Mondello, Stefania ; Palmio, Johanna ; Streeter, Jackson ; Hayes, Ronald L ; Peltola, Jukka ; Jeromin, Andreas
Publisher:England: BioMed Central Ltd
Journal title:BMC neurology, 2012-08, Vol.12 (1), p.85-85, Article 85
View online as a Library member
Access ebook if you are in the Library. Registered NSW residents may log in from home.
Export this record
Export to excel
Print
Export record to excel
File type to download
Beta version
Select record 9
ArticlesPeer ReviewedFull Text
Provisional practice recommendation for the management of myopathy in VCP‐associated multisystem proteinopathy
Author / Creator:Roy, Bhaskar ; Peck, Allison ; Evangelista, Teresinha ; Pfeffer, Gerald ; Wang, Leo ; Diaz‐Manera, Jordi ; Korb, Manisha ; Wicklund, Matthew P. ; Milone, Margherita ; Freimer, Miriam ; Kushlaf, Hani ; Villar‐Quiles, Rocio‐Nur ; Stojkovic, Tanya ; Needham, Merrilee ; Palmio, Johanna ; Lloyd, Thomas E. ; Keung, Benison ; Mozaffar, Tahseen ; Weihl, Conrad Chris ; Kimonis, Virginia
Publisher:United States: John Wiley & Sons, Inc
Journal title:Annals of clinical and translational neurology, 2023-05, Vol.10 (5), p.686-695
View online as a Library member
Access ebook if you are in the Library. Registered NSW residents may log in from home.
Export this record
Export to excel
Print
Export record to excel
File type to download
Beta version
Select record 10
ArticlesPeer ReviewedFull Text
Novel compound heterozygous mutation in SACS gene leads to a milder autosomal recessive spastic ataxia of Charlevoix‐Saguenay, ARSACS, in a Finnish family
Author / Creator:Palmio, Johanna ; Kärppä, Mikko ; Baumann, Peter ; Penttilä, Sini ; Moilanen, Jukka ; Udd, Bjarne
Publisher:England: John Wiley & Sons, Inc
Journal title:Clinical case reports, 2016-12, Vol.4 (12), p.1151-1156
View online as a Library member
Access ebook if you are in the Library. Registered NSW residents may log in from home.
Export this record
Export to excel
Print
Export record to excel
File type to download
Beta version
Select record 11
ArticlesPeer ReviewedFull Text
Plasma and cerebrospinal fluid amino acids in epileptic patients
Author / Creator:Rainesalo, Sirpa ; Keränen, Tapani ; Palmio, Johanna ; Peltola, Jukka ; Oja, Simo S ; Saransaari, Pirjo
Publisher:United States: Springer Nature B.V
Journal title:Neurochemical research, 2004-01, Vol.29 (1), p.319-324
View online as a Library member
Access ebook if you are in the Library. Registered NSW residents may log in from home.
Export this record
Export to excel
Print
Export record to excel
File type to download
Beta version
Select record 12
ArticlesPeer ReviewedFull Text
A retrospective study of accuracy and usefulness of electrophysiological exercise tests
Author / Creator:Periviita, Vesa ; Jokela, Manu ; Palmio, Johanna ; Udd, Bjarne
Publisher:Berlin/Heidelberg: Springer Berlin Heidelberg
Journal title:Journal of neurology, 2024-04, Vol.271 (4), p.1802-1812
View online as a Library member
Access ebook if you are in the Library. Registered NSW residents may log in from home.
Export this record
Export to excel
Print
Export record to excel
File type to download
Beta version
Select record 13
ArticlesPeer ReviewedFull Text
Comprehensive transcriptomic analysis shows disturbed calcium homeostasis and deregulation of T lymphocyte apoptosis in inclusion body myositis
Author / Creator:Johari, Mridul ; Vihola, Anna ; Palmio, Johanna ; Jokela, Manu ; Jonson, Per Harald ; Sarparanta, Jaakko ; Huovinen, Sanna ; Savarese, Marco ; Hackman, Peter ; Udd, Bjarne
Publisher:Berlin/Heidelberg: Springer Berlin Heidelberg
Journal title:Journal of neurology, 2022-08, Vol.269 (8), p.4161-4173
View online as a Library member
Access ebook if you are in the Library. Registered NSW residents may log in from home.
Export this record
Export to excel
Print
Export record to excel
File type to download
Beta version
Select record 14
ArticlesPeer ReviewedFull Text
A novel COL6A2 mutation causing late-onset limb-girdle muscular dystrophy
Author / Creator:Jokela, Manu ; Lehtinen, Sara ; Palmio, Johanna ; Saukkonen, Anna-Maija ; Huovinen, Sanna ; Vihola, Anna ; Udd, Bjarne
Publisher:Berlin/Heidelberg: Springer Berlin Heidelberg
Journal title:Journal of neurology, 2019-07, Vol.266 (7), p.1649-1654
View online as a Library member
Access ebook if you are in the Library. Registered NSW residents may log in from home.
Export this record
Export to excel
Print
Export record to excel
File type to download
Beta version
Select record 15
ArticlesPeer ReviewedFull Text
TIA1 variant drives myodegeneration in multisystem proteinopathy with SQSTM1 mutations
Author / Creator:Lee, YouJin ; Jonson, Per Harald ; Sarparanta, Jaakko ; Palmio, Johanna ; Sarkar, Mohona ; Vihola, Anna ; Evilä, Anni ; Suominen, Tiina ; Penttilä, Sini ; Savarese, Marco ; Johari, Mridul ; Minot, Marie-Christine ; Hilton-Jones, David ; Maddison, Paul ; Chinnery, Patrick ; Reimann, Jens ; Kornblum, Cornelia ; Kraya, Torsten ; Zierz, Stephan ; Sue, Carolyn ; Goebel, Hans ; Azfer, Asim ; Ralston, Stuart H ; Hackman, Peter ; Bucelli, Robert C ; Taylor, J Paul ; Weihl, Conrad C ; Udd, Bjarne
Publisher:United States: American Society for Clinical Investigation
Journal title:The Journal of clinical investigation, 2018-03, Vol.128 (3), p.1164-1177
View online as a Library member
Access ebook if you are in the Library. Registered NSW residents may log in from home.
Export this record
Export to excel
Print
Export record to excel
File type to download
Beta version
Select record 16
ArticlesPeer ReviewedFull Text
Re-evaluation of the phenotype caused by the common MATR3 p.Ser85Cys mutation in a new family
Author / Creator:Palmio, Johanna ; Evilä, Anni ; Bashir, Ayat ; Norwood, Fiona ; Viitaniemi, Kati ; Vihola, Anna ; Huovinen, Sanna ; Straub, Volker ; Hackman, Peter ; Hirano, Michio ; Bushby, Kate ; Udd, Bjarne
Publisher:England: BMJ Publishing Group LTD
Journal title:Journal of neurology, neurosurgery and psychiatry, 2016-04, Vol.87 (4), p.448-450
View online as a Library member
Access ebook if you are in the Library. Registered NSW residents may log in from home.
Export this record
Export to excel
Print
Export record to excel
File type to download
Beta version
Select record 17
ArticlesPeer ReviewedFull Text
Development of a standard of care for patients with valosin-containing protein associated multisystem proteinopathy
Author / Creator:Korb, Manisha ; Peck, Allison ; Alfano, Lindsay N ; Berger, Kenneth I ; James, Meredith K ; Ghoshal, Nupur ; Healzer, Elise ; Henchcliffe, Claire ; Khan, Shaida ; Mammen, Pradeep P A ; Patel, Sujata ; Pfeffer, Gerald ; Ralston, Stuart H ; Roy, Bhaskar ; Seeley, William W ; Swenson, Andrea ; Mozaffar, Tahseen ; Weihl, Conrad ; Kimonis, Virginia
Publisher:England: BioMed Central
Journal title:Orphanet journal of rare diseases, 2022-01, Vol.17 (1), p.23-23, Article 23
View online as a Library member
Access ebook if you are in the Library. Registered NSW residents may log in from home.
Export this record
Export to excel
Print
Export record to excel
File type to download
Beta version
Select record 18
ArticlesPeer ReviewedFull Text
Recessive PYROXD1 mutations cause adult-onset limb-girdle-type muscular dystrophy
Author / Creator:Sainio, Markus T. ; Välipakka, Salla ; Rinaldi, Bruno ; Lapatto, Helena ; Paetau, Anders ; Ojanen, Simo ; Brilhante, Virginia ; Jokela, Manu ; Huovinen, Sanna ; Auranen, Mari ; Palmio, Johanna ; Friant, Sylvie ; Ylikallio, Emil ; Udd, Bjarne ; Tyynismaa, Henna
Publisher:Berlin/Heidelberg: Springer Berlin Heidelberg
Journal title:Journal of neurology, 2019-02, Vol.266 (2), p.353-360
View online as a Library member
Access ebook if you are in the Library. Registered NSW residents may log in from home.
Export this record
Export to excel
Print
Export record to excel
File type to download
Beta version
Select record 19
ArticlesPeer ReviewedFull Text
Analysis of muscle magnetic resonance imaging of a large cohort of patient with VCP-mediated disease reveals characteristic features useful for diagnosis
Author / Creator:Esteller, Diana ; Schiava, Marianela ; Verdú-Díaz, José ; Villar-Quiles, Rocío-Nur ; Dibowski, Boris ; Venturelli, Nadia ; Laforet, Pascal ; Alonso-Pérez, Jorge ; Olive, Montse ; Domínguez-González, Cristina ; Paradas, Carmen ; Vélez, Beatriz ; Kostera-Pruszczyk, Anna ; Kierdaszuk, Biruta ; Rodolico, Carmelo ; Claeys, Kristl ; Pál, Endre ; Malfatti, Edoardo ; Souvannanorath, Sarah ; Alonso-Jiménez, Alicia ; de Ridder, Willem ; De Smet, Eline ; Papadimas, George ; Papadopoulos, Constantinos ; Xirou, Sofia ; Luo, Sushan ; Muelas, Nuria ; Vilchez, Juan J. ; Ramos-Fransi, Alba ; Monforte, Mauro ; Tasca, Giorgio ; Udd, Bjarne ; Palmio, Johanna ; Sri, Srtuhi ; Krause, Sabine ; Schoser, Benedikt ; Fernández-Torrón, Roberto ; López de Munain, Adolfo ; Pegoraro, Elena ; Farrugia, Maria Elena ; Vorgerd, Mathias ; Manousakis, Georgious ; Chanson, Jean Baptiste ; Nadaj-Pakleza, Aleksandra ; Cetin, Hakan ; Badrising, Umesh ; Warman-Chardon, Jodi ; Bevilacqua, Jorge ; Earle, Nicholas ; Campero, Mario ; Díaz, Jorge ; Ikenaga, Chiseko ; Lloyd, Thomas E. ; Nishino, Ichizo ; Nishimori, Yukako ; Saito, Yoshihiko ; Oya, Yasushi ; Takahashi, Yoshiaki ; Nishikawa, Atsuko ; Sasaki, Ryo ; Marini-Bettolo, Chiara ; Guglieri, Michela ; Straub, Volker ; Stojkovic, Tanya ; Carlier, Robert Y. ; Díaz-Manera, Jordi
Publisher:Berlin/Heidelberg: Springer Berlin Heidelberg
Journal title:Journal of neurology, 2023-12, Vol.270 (12), p.5849-5865
View online as a Library member
Access ebook if you are in the Library. Registered NSW residents may log in from home.
Export this record
Export to excel
Print
Export record to excel
File type to download
Beta version
Select record 20
ArticlesPeer ReviewedFull Text
CHCHD10 mutations and motor neuron disease: the distribution in Finnish patients
Author / Creator:Penttilä, Sini ; Jokela, Manu ; Saukkonen, Anna Maija ; Toivanen, Jari ; Palmio, Johanna ; Lähdesmäki, Janne ; Sandell, Satu ; Shcherbii, Mariia ; Auranen, Mari ; Ylikallio, Emil ; Tyynismaa, Henna ; Udd, Bjarne
Publisher:England: BMJ Publishing Group LTD
Journal title:Journal of neurology, neurosurgery and psychiatry, 2017-03, Vol.88 (3), p.272-277
View online as a Library member
Access ebook if you are in the Library. Registered NSW residents may log in from home.

Showing 1 to 20 of 28 results

Export record to excel

Export this record

Export record to excel

Mutations affecting the cytoplasmic functions of the co-chaperone DNAJB6 cause limb-girdle muscular dystrophy

Export this record

Export record to excel

Distinct Muscle Biopsy Findings in Genetically Defined Adult-Onset Motor Neuron Disorders

Export this record

Export record to excel

A novel FLNC frameshift and an OBSCN variant in a family with distal muscular dystrophy

Export this record

Export record to excel

Expanding the importance of HMERF titinopathy: new mutations and clinical aspects

Export this record

Export record to excel

Targeted Next-Generation Sequencing Reveals Novel TTN Mutations Causing Recessive Distal Titinopathy

Export this record

Export record to excel

NEB mutations disrupt the super-relaxed state of myosin and remodel the muscle metabolic proteome in nemaline myopathy

Export this record

Export record to excel

Diagnostically important muscle pathology in DNAJB6 mutated LGMD1D

Export this record

Export record to excel

Ubiquitin carboxy-terminal hydrolase L1 (UCH-L1) is increased in cerebrospinal fluid and plasma of patients after epileptic seizure

Export this record

Export record to excel

Provisional practice recommendation for the management of myopathy in VCP‐associated multisystem proteinopathy

Export this record

Export record to excel

Novel compound heterozygous mutation in SACS gene leads to a milder autosomal recessive spastic ataxia of Charlevoix‐Saguenay, ARSACS, in a Finnish family

Export this record

Export record to excel

Plasma and cerebrospinal fluid amino acids in epileptic patients

Export this record

Export record to excel

A retrospective study of accuracy and usefulness of electrophysiological exercise tests

Export this record

Export record to excel

Comprehensive transcriptomic analysis shows disturbed calcium homeostasis and deregulation of T lymphocyte apoptosis in inclusion body myositis

Export this record

Export record to excel

A novel COL6A2 mutation causing late-onset limb-girdle muscular dystrophy

Export this record

Export record to excel

TIA1 variant drives myodegeneration in multisystem proteinopathy with SQSTM1 mutations

Export this record

Export record to excel

Re-evaluation of the phenotype caused by the common MATR3 p.Ser85Cys mutation in a new family

Export this record

Export record to excel

Development of a standard of care for patients with valosin-containing protein associated multisystem proteinopathy

Export this record

Export record to excel

Recessive PYROXD1 mutations cause adult-onset limb-girdle-type muscular dystrophy

Export this record

Export record to excel

Analysis of muscle magnetic resonance imaging of a large cohort of patient with VCP-mediated disease reveals characteristic features useful for diagnosis

Export this record

Export record to excel

CHCHD10 mutations and motor neuron disease: the distribution in Finnish patients

Refine your search