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

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

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

Referentgranskad
Öppen tillgång
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

Referentgranskad
Öppen tillgång
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

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

Nuoren miehen paraplegia

Hetemäki, Iivo; Schalin-Jäntti, Camilla
Duodecim2016

Novel CTNNB1 variant leading to neurodevelopmental disorder with spastic diplegia and visual defects plus peripheral neuropathy:A case report

Referentgranskad
DOI
10.1002/ajmg.a.62902
Spagnoli, Carlotta; Salerno, Grazia G.; Rizzi, Susanna; Frattini, Daniele; Koskenvuo, Juha; Fusco, C...
American journal of medical genetics. Part A2022

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

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

Molecular epidemiology of hereditary ataxia in Finland

Referentgranskad
Öppen tillgång
DOI
10.1186/s12883-021-02409-z
Lipponen, Joonas; Helisalmi, Seppo; Raivo, Joose; Siitonen, Ari; Doi, Hiroshi; Rusanen, Harri; Lehti...
Bmc neurology2021

ABCD1-geenin mutaatiosta johtuva adrenomyeloneuropatia spastisen parapareesin taustatekijänä

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

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

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

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

Referentgranskad
DOI
10.1016/j.ejmg.2020.104040
2020

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

Referentgranskad
Öppen tillgång
DOI
10.1093/hmg/ddx042
2017

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

Referentgranskad
Öppen tillgång
DOI
10.1002/ana.24762
2016

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

Referentgranskad
2020

Nuoren miehen paraplegia

2016

Novel CTNNB1 variant leading to neurodevelopmental disorder with spastic diplegia and visual defects plus peripheral neuropathy:A case report

Referentgranskad
DOI
10.1002/ajmg.a.62902
2022

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

Referentgranskad
DOI
10.1038/ejhg.2014.297
2015

Molecular epidemiology of hereditary ataxia in Finland

Referentgranskad
Öppen tillgång
DOI
10.1186/s12883-021-02409-z
2021

ABCD1-geenin mutaatiosta johtuva adrenomyeloneuropatia spastisen parapareesin taustatekijänä

Referentgranskad
2017

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

Referentgranskad
DOI
10.1093/hmg/ddu740
2015