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Nuoren miehen paraplegia

Hetemäki, Iivo; Schalin-Jäntti, Camilla
Duodecim2016

X-linked myotubular myopathy mimics hereditary spastic paraplegia in two female manifesting carriers of pathogenic MTM1 variant

Vertaisarvioitu
DOI
10.1016/j.ejmg.2020.104040
Kraatari, M.; Tuominen, H.; Tuupanen, S.; Haapaniemi, T.; Moilanen, J.; Rahikkala, E.
European journal of medical genetics2020

Dominant transmission of de novo KIF1A motor domain variant underlying pure spastic paraplegia

Vertaisarvioitu
DOI
10.1038/ejhg.2014.297
Ylikallio, Emil; Kim, Doyoun; Isohanni, Pirjo; Auranen, Mari; Kim, Eunjoon; Lonnqvist, Tuula; Tyynis...
European journal of human genetics2015

ATPase-deficient mitochondrial inner membrane protein ATAD3A disturbs mitochondrial dynamics in dominant hereditary spastic paraplegia.

Vertaisarvioitu
Avoin saatavuus
DOI
10.1093/hmg/ddx042
Cooper, Helen; Yang, Yang; Ylikallio, Emil; Khairullin, Rafil; Woldegebriel, Rosa; Lin, Kai-Lan; Eur...
Human molecular genetics2017

A Recurrent Mutation in KCNA2 as a Novel Cause of Hereditary Spastic Paraplegia and Ataxia

Vertaisarvioitu
Avoin saatavuus
DOI
10.1002/ana.24762
Helbig, Katherine L.; Hedrich, Ulrike B. S.; Shinde, Deepali N.; Krey, Ilona; Teichmann, Anne-Christ...
Annals of neurology2016

X-linked myotubular myopathy mimics hereditary spastic paraplegia in two female manifesting carriers of pathogenic MTM1 variant

Vertaisarvioitu
Kraatari M; Tuominen H; Tuupanen S; Haapaniemi T; Moilanen J; Rahikkala E
European Journal of Medical Genetics2020

Physical therapists’ perceptions about patients with incomplete post-traumatic paraplegia adherence to recommended home exercises: a qualitative study

Vertaisarvioitu
Avoin saatavuus
DOI
10.1016/j.bjpt.2018.05.004
Serpanou, Ismini; Sakellari, Evanthia; Psychogiou, Maria; Zyga, Sofia; Sapountzi-Krepia, Despina
brazilian journal physical therapy2019

Recessive loss-of-function mutations in AP4S1 cause mild fever-sensitive seizures, developmental delay and spastic paraplegia through loss of AP-4 complex assembly

Vertaisarvioitu
DOI
10.1093/hmg/ddu740
Hardies, Katia; May, Patrick; Djemie, Tania; Tarta-Arsene, Oana; Deconinck, Tine; Craiu, Dana; Helbi...
Human Molecular Genetics2015

Exploring Spinal Cord Protection by Remote Ischemic Preconditioning : An Experimental Study

Vertaisarvioitu
DOI
10.1016/j.athoracsur.2016.06.084
Herajarvi, Johanna; Anttila, Tuomas; Sarja, Henna; Mustonen, Caius; Haapanen, Henri; Makela, Tuomas;...
Annals of thoracic surgery2017

ABCD1-geenin mutaatiosta johtuva adrenomyeloneuropatia spastisen parapareesin taustatekijänä

Vertaisarvioitu
Ylikallio, Emil; Rahikkala, Elisa; Keski-Filppula, Riikka; Auranen, Mari; Tyynismaa, Henna
Duodecim2017

Nuoren miehen paraplegia

2016

X-linked myotubular myopathy mimics hereditary spastic paraplegia in two female manifesting carriers of pathogenic MTM1 variant

Vertaisarvioitu
DOI
10.1016/j.ejmg.2020.104040
2020

Dominant transmission of de novo KIF1A motor domain variant underlying pure spastic paraplegia

Vertaisarvioitu
DOI
10.1038/ejhg.2014.297
2015

ATPase-deficient mitochondrial inner membrane protein ATAD3A disturbs mitochondrial dynamics in dominant hereditary spastic paraplegia.

Vertaisarvioitu
Avoin saatavuus
DOI
10.1093/hmg/ddx042
2017

A Recurrent Mutation in KCNA2 as a Novel Cause of Hereditary Spastic Paraplegia and Ataxia

Vertaisarvioitu
Avoin saatavuus
DOI
10.1002/ana.24762
2016

X-linked myotubular myopathy mimics hereditary spastic paraplegia in two female manifesting carriers of pathogenic MTM1 variant

Vertaisarvioitu
2020

Physical therapists’ perceptions about patients with incomplete post-traumatic paraplegia adherence to recommended home exercises: a qualitative study

Vertaisarvioitu
Avoin saatavuus
DOI
10.1016/j.bjpt.2018.05.004
2019

Recessive loss-of-function mutations in AP4S1 cause mild fever-sensitive seizures, developmental delay and spastic paraplegia through loss of AP-4 complex assembly

Vertaisarvioitu
DOI
10.1093/hmg/ddu740
2015

Exploring Spinal Cord Protection by Remote Ischemic Preconditioning : An Experimental Study

Vertaisarvioitu
DOI
10.1016/j.athoracsur.2016.06.084
2017

ABCD1-geenin mutaatiosta johtuva adrenomyeloneuropatia spastisen parapareesin taustatekijänä

Vertaisarvioitu
2017