Näytetään tulokset 1 - 10 / 489
tulosta / sivu
Mitä julkaisutietoja palvelu sisältää?
Julkaisun nimi
Tekijät
Julkaisukanava
Vuosi

Charcot-Marie-Tooth Disease : molecular epidemiology in Northern Ostrobothnia

Avoin saatavuus
Lehtilahti, Maria
Acta Universitatis Ouluensis. Series D, Medica2022

Structural insights into Charcot-Marie-Tooth disease-linked mutations in human GDAP1

Vertaisarvioitu
Avoin saatavuus
DOI
10.1002/2211-5463.13422
Sutinen, Aleksi; Nguyen, Giang Thi Tuyet; Raasakka, Arne; Muruganandam, Gopinath; Loris, Remy; Ylika...
FEBS open bio2022

Optical Genome Mapping Identifies a Second Xq27.1 Rearrangement Associated With Charcot-Marie-Tooth Neuropathy CMTX3

Vertaisarvioitu
Avoin saatavuus
DOI
10.1002/mgg3.70014
Rahikkala, Elisa; Komulainen-Ebrahim, Jonna; Tolonen, Jussi-Pekka; Vorimo, Sandra; Suo-Palosaari, Ma...
Molecular genetics & genomic medicine2024

Novel mitofusin 2 splice-site mutation causes Charcot-Marie-Tooth disease type 2 with prominent sensory dysfunction

Vertaisarvioitu
DOI
10.1016/j.nmd.2014.01.007
Martikainen, Mika H.; Kytövuori, Laura; Majamaa, Kari
Neuromuscular disorders2014

Alterations of autophagy in the peripheral neuropathy Charcot-Marie-Tooth type 2B

Vertaisarvioitu
Avoin saatavuus
DOI
10.1080/15548627.2017.1388475
Colecchia, D; Stasi, M; Leonardi, M; Manganelli, F; Nolano, M; Veneziani, BM; Santoro, L; Eskelinen,...
Autophagy2018

MCM3AP in recessive Charcot-Marie-Tooth neuropathy and mild intellectual disability

Vertaisarvioitu
Avoin saatavuus
DOI
10.1093/brain/awx138
Ylikallio, Emil; Woldegebriel, Rosa; Tumiati, Manuela; Isohanni, Pirjo; Ryan, Monique M.; Stark, Zor...
Brain2017

Cavovarus With a Twist:Midfoot Coronal and Axial Plane Rotational Deformity in Charcot-Marie-Tooth Disease

Vertaisarvioitu
DOI
10.1177/10711007211064600
An, Tonya; Haupt, Edward; Michalski, Max; Salo, Jari; Pfeffer, Glenn
Foot and ankle international2022

Charcot-Marie-Tooth disease type 1J

Avoin saatavuus
Rönkkö, Julius Anthony
Dissertationes Universitatis Helsingiensis2024

Molecular Epidemiology of Charcot-Marie-Tooth Disease in Northern Ostrobothnia, Finland : A Population-Based Study

Vertaisarvioitu
DOI
10.1159/000478860
Marttila, Maria; Kytövuori, Laura; Helisalmi, Seppo; Kallio, Mika; Laitinen, Marjo; Hiltunen, Mikko;...
Neuroepidemiology2017

Dominant mutations in ITPR3 cause Charcot-Marie-Tooth disease

Vertaisarvioitu
Avoin saatavuus
DOI
10.1002/acn3.51190
Rönkkö, Julius; Molchanova, Svetlana; Revah-Politi, Anya; Pereira, Elaine M.; Auranen, Mari; Toppila...
Annals of clinical and translational neurology2020

Charcot-Marie-Tooth Disease : molecular epidemiology in Northern Ostrobothnia

Avoin saatavuus
2022

Structural insights into Charcot-Marie-Tooth disease-linked mutations in human GDAP1

Vertaisarvioitu
Avoin saatavuus
DOI
10.1002/2211-5463.13422
2022

Optical Genome Mapping Identifies a Second Xq27.1 Rearrangement Associated With Charcot-Marie-Tooth Neuropathy CMTX3

Vertaisarvioitu
Avoin saatavuus
DOI
10.1002/mgg3.70014
2024

Novel mitofusin 2 splice-site mutation causes Charcot-Marie-Tooth disease type 2 with prominent sensory dysfunction

Vertaisarvioitu
DOI
10.1016/j.nmd.2014.01.007
2014

Alterations of autophagy in the peripheral neuropathy Charcot-Marie-Tooth type 2B

Vertaisarvioitu
Avoin saatavuus
DOI
10.1080/15548627.2017.1388475
2018

MCM3AP in recessive Charcot-Marie-Tooth neuropathy and mild intellectual disability

Vertaisarvioitu
Avoin saatavuus
DOI
10.1093/brain/awx138
2017

Cavovarus With a Twist:Midfoot Coronal and Axial Plane Rotational Deformity in Charcot-Marie-Tooth Disease

Vertaisarvioitu
DOI
10.1177/10711007211064600
2022

Charcot-Marie-Tooth disease type 1J

Avoin saatavuus
2024

Molecular Epidemiology of Charcot-Marie-Tooth Disease in Northern Ostrobothnia, Finland : A Population-Based Study

Vertaisarvioitu
DOI
10.1159/000478860
2017

Dominant mutations in ITPR3 cause Charcot-Marie-Tooth disease

Vertaisarvioitu
Avoin saatavuus
DOI
10.1002/acn3.51190
2020