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1

A novel mutation of the GAA gene in a Finnish late-onset pompe disease patient: Clinical phenotype and follow-up with enzyme replacement therapy

Mari P. Korpela, Anders Paetau, Mervi I. Löfberg, Marjut H. Timonen, Antti E. Lamminen, Sari M.K. Kiuru-Enari

Journal:

Year:

2009

Language:

english

File:

PDF, 139 KB

english, 2009

2

DominantGDAP1founder mutation is a common cause of axonal Charcot-Marie-Tooth disease in Finland

Auranen, Mari, Ylikallio, Emil, Toppila, Jussi, Somer, Mirja, Kiuru-Enari, Sari, Tyynismaa, Henna

Journal:

Year:

2013

Language:

english

File:

PDF, 228 KB

english, 2013

3

Progressive cranial nerve involvement and grading of facial paralysis in gelsolin amyloidosis

Pihlamaa, Tiia, Salmi, Tapani, Suominen, Sinikka, Kiuru-Enari, Sari

Journal:

Year:

2016

Language:

english

File:

PDF, 148 KB

english, 2016

4

Finnish gelsolin amyloidosis causes significant disease burden but does not affect survival: FIN-GAR phase II study

Schmidt, Eeva-Kaisa, Mustonen, Tuuli, Kiuru-Enari, Sari, Kivelä, Tero T., Atula, Sari

Journal:

Orphanet Journal of Rare Diseases

Year:

2020

Language:

english

File:

PDF, 917 KB

english, 2020

5

Hereditary gelsolin amyloidosis mimicking Sjögren’s syndrome

Pirjo Juusela, Maarit Tanskanen, Anja Nieminen, Veli-Jukka Uitto, Harri Blåfield, Sari Kiuru-Enari

Journal:

Clinical Rheumatology

Year:

2009

Language:

english

File:

PDF, 140 KB

english, 2009

6

Cutis laxa in hereditary gelsolin amyloidosis

S. Kiuru-Enari, J. Keski-Oja, M. Haltia

Journal:

British Journal of Dermatology

Year:

2005

Language:

english

File:

PDF, 429 KB

english, 2005

7

Cerebral amyloid angiopathy in a 95+ cohort: complement activation and apolipoprotein E (ApoE) genotype

M. Tanskanen, P. J. Lindsberg, P. J. Tienari, T. Polvikoski, R. Sulkava, A. Verkkoniemi, S. Rastas, A. Paetau, S. Kiuru-Enari

Journal:

Neuropathology and Applied Neurobiology

Year:

2005

Language:

english

File:

PDF, 365 KB

english, 2005

8

Patients with a Non-dysferlin Miyoshi Myopathy have a Novel Membrane Repair Defect

Jyoti K. Jaiswal, Gareth Marlow, Gillian Summerill, Ibrahim Mahjneh, Sebastian Mueller, Maria Hill, Katsuya Miyake, Hannelore Haase, Louise V. B. Anderson, Isabelle Richard, Sari Kiuru-Enari, Paul L.

Journal:

Year:

2007

Language:

english

File:

PDF, 642 KB

english, 2007

9

FGF-21 as a biomarker for muscle-manifesting mitochondrial respiratory chain deficiencies: a diagnostic study

Anu Suomalainen, Jenni M Elo, Kirsi H Pietiläinen, Anna H Hakonen, Ksenia Sevastianova, Mari Korpela, Pirjo Isohanni, Sanna K Marjavaara, Tiina Tyni, Sari Kiuru-Enari, Helena Pihko, Niklas Darin, Katr

Journal:

The Lancet Neurology

Year:

2011

Language:

english

File:

PDF, 298 KB

english, 2011

10

A new distal myopathy with mutation in anoctamin 5

Ibrahim Mahjneh, Jyoti Jaiswal, Antti Lamminen, Mirja Somer, Gareth Marlow, Sari Kiuru-Enari, Rumaisa Bashir

Journal:

Neuromuscular Disorders

Year:

2010

Language:

english

File:

PDF, 771 KB

english, 2010

11

Selective pattern of muscle involvement seen in distal muscular dystrophy associated with anoctamin 5 mutations: A follow-up muscle MRI study

Ibrahim Mahjneh, Rumaisa Bashir, Sari Kiuru-Enari, Wim Linssen, Antti Lamminen, Marianne de Visser

Journal:

Neuromuscular Disorders

Year:

2012

Language:

english

File:

PDF, 509 KB

english, 2012

12

[Handbook of Clinical Neurology] Peripheral Nerve Disorders Volume 115 || Hereditary gelsolin amyloidosis

Kiuru-Enari, Sari

Year:

2013

Language:

english

File:

PDF, 12.72 MB

english, 2013

13

Targeted next-generation sequencing reveals further genetic heterogeneity in axonal Charcot–Marie–Tooth neuropathy and a mutation in HSPB1

Ylikallio, Emil, Johari, Mridul, Konovalova, Svetlana, Moilanen, Jukka S, Kiuru-Enari, Sari, Auranen, Mari, Pajunen, Leila, Tyynismaa, Henna

Journal:

European Journal of Human Genetics

Year:

2014

Language:

english

File:

PDF, 801 KB

english, 2014

14

P3 Development of anoctaminopathy immunodiagnostics using the novel ANO5–5F7 antibody

Bashir, R., Ramachandran, U., Rabelo, B., Exton, J., Henderson, M., Dubuisson, A., Kiuru-Enari, S., de Visser, M., Linssen, W.H.J.P., Baas, F., Mahjneh, I., Barresi, R.

Journal:

Neuromuscular Disorders

Year:

2014

Language:

english

File:

PDF, 95 KB

english, 2014

15

Relation of gelsolin amyloidosis and periodontal health

Juusela, Pirjo L., Persson, Rutger G., Nieminen, Anja R., Kiuru-Enari, Sari M., Uitto, Veli-Jukka

Journal:

Clinical Oral Investigations

Year:

2015

Language:

english

File:

PDF, 234 KB

english, 2015

16

G.P.283

Palmio, J.M.M., Evilä, A., Jonson, P.H., Auranen, M., Kiuru-Enari, S., Pihko, H., Hackman, P., Udd, B.

Journal:

Neuromuscular Disorders

Year:

2014

Language:

english

File:

PDF, 44 KB

english, 2014

17

Xerostomia in hereditary gelsolin amyloidosis

Juusela, Pirjo, Tanskanen, Maarit, Nieminen, Anja, Kari, Kirsti, Suominen, Liisa, Uitto, Veli-Jukka, Kiuru-Enari, Sari

Journal:

Year:

2013

Language:

english

File:

PDF, 740 KB

english, 2013

18

Screening for late-onset Pompe disease in Finland

Palmio, Johanna, Auranen, Mari, Kiuru-Enari, Sari, Löfberg, Mervi, Bodamer, Olaf, Udd, Bjarne

Journal:

Neuromuscular Disorders

Year:

2014

Language:

english

File:

PDF, 182 KB

english, 2014

19

Severe ataxia with neuropathy in hereditary gelsolin amyloidosis: A case report

Tanskanen, Maarit, Paetau, Anders, Salonen, Oili, Salmi, Tapani, Lamminen, Antti, Lindsberg, Perttu, Somer, Hannu, Kiuru-Enari, Sari

Journal:

Year:

2007

Language:

english

File:

PDF, 818 KB

english, 2007

20

Senile systemic amyloidosis, cerebral amyloid angiopathy, and dementia in a very old Finnish population

Tanskanen, Maarit, Kiuru-Enari, Sari, Tienari, Pentti, Polvikoski, Tuomo, Verkkoniemi, Auli, Rastas, Sari, Sulkava, Raimo, Paetau, Anders

Journal:

Year:

2006

Language:

english

File:

PDF, 641 KB

english, 2006

21

Withdrawn: Severe ataxia with neuropathy in hereditary gelsolin amyloidosis

Tanskanen, Maarit, Paetau, Anders, Salonen, Oili, Salmi, Tapani, Lamminen, Antti, Lindsberg, Perttu, Somer, Hannu, Kiuru-Enari, Sari

Journal:

Year:

2009

Language:

english

File:

PDF, 702 KB

english, 2009

22

Hereditary renal amyloidosis caused by a heterozygous G654A gelsolin mutation: a report of two cases

Yamanaka, S., Miyazaki, Y., Kasai, K., Ikeda, S.-i., Kiuru-Enari, S., Hosoya, T.

Journal:

Clinical Kidney Journal

Year:

2013

Language:

english

File:

PDF, 502 KB

english, 2013

23

Atrial fibrillation is poorly tolerated by patients with hypertrophic concentric cardiomyopathy caused by mitochondrial tRNALeu (UUR) mutations

Heliö, Tiina M., Götz, Alexandra, Rapola, Janne, Kiuru-Enari, Sari, Kivistö, Sari, Heikinheimo, Terttu, Suomalainen, Anu

Journal:

Year:

2013

Language:

english

File:

PDF, 775 KB

english, 2013

24

Novel mutations in DNAJB6 gene cause a very severe early-onset limb-girdle muscular dystrophy 1D disease

Palmio, Johanna, Jonson, Per Harald, Evilä, Anni, Auranen, Mari, Straub, Volker, Bushby, Kate, Sarkozy, Anna, Kiuru-Enari, Sari, Sandell, Satu, Pihko, Helena, Hackman, Peter, Udd, Bjarne

Journal:

Neuromuscular Disorders

Year:

2015

Language:

english

File:

PDF, 2.01 MB

english, 2015

25

Familial amyloidotic polyneuropathy type IV – gelsolin amyloidosis

Pihlamaa, Tiia, Suominen, Sinikka, Kiuru-Enari, Sari

Journal:

Year:

2012

Language:

english

File:

PDF, 853 KB

english, 2012

26

Clinical features of facioscapulohumeral muscular dystrophy 2

de Greef, J. C., Lemmers, R. J. L. F., Camano, P., Day, J. W., Sacconi, S., Dunand, M., van Engelen, B. G. M., Kiuru-Enari, S., Padberg, G. W., Rosa, A. L., Desnuelle, C., Spuler, S., Tarnopolsky, M.,

Journal:

Year:

2010

Language:

english

File:

PDF, 875 KB

english, 2010

27

Amyloidosis-related nephrotic syndrome due to a G654A gelsolin mutation: the first report from the Middle East

Ardalan, M. R., Shoja, M. M., Kiuru-Enari, S.

Journal:

Nephrology Dialysis Transplantation

Year:

2006

Language:

english

File:

PDF, 224 KB

english, 2006

28

Natural course of Finnish gelsolin amyloidosis

Nikoskinen, Tuuli, Schmidt, Eeva-Kaisa, Strbian, Daniel, Kiuru-Enari, Sari, Atula, Sari

Journal:

Annals of Medicine

Year:

2015

Language:

english

File:

PDF, 623 KB

english, 2015

29

Gender differences in the clinical course of Finnish gelsolin amyloidosis

Atula, Sari, Nikoskinen, Tuuli, Saastamoinen, Aleksi, Strbian, Daniel, Schmidt, Eeva-Kaisa, Kiuru-Enari, Sari

Journal:

Year:

2016

Language:

english

File:

PDF, 639 KB

english, 2016

30

A novel transthyretin Lys70Glu (p.Lys90Glu) mutation presenting with vitreous amyloidosis and carpal tunnel syndrome

Raivio, Virpi Elisa, Jonasson, Jenni, Myllykangas, Liisa, Ala-Mello, Sirpa, Kankuri-Tammilehto, Minna, Kiuru-Enari, Sari, Westermark, Per, Tanskanen, Maarit, Kivelä, Tero

Journal:

Year:

2016

File:

PDF, 878 KB

2016

31

Neuromuscular Pathology in Hereditary Gelsolin Amyloidosis

Kiuru-Enari, Sari, Somer, Hannu, Seppäläinen, Anna-Maria, Notkola, Irma-Leena, Haltia, Matti

Journal:

Journal of Neuropathology and Experimental Neurology

Year:

2002

Language:

english

File:

PDF, 273 KB

english, 2002

32

A novel transthyretin Lys70Glu (p.Lys90Glu) mutation presenting with vitreous amyloidosis and carpal tunnel syndrome

Raivio, Virpi Elisa, Jonasson, Jenni, Myllykangas, Liisa, Ala-Mello, Sirpa, Kankuri-Tammilehto, Minna, Kiuru-Enari, Sari, Westermark, Per, Tanskanen, Maarit, Kivelä, Tero

Journal:

Year:

2016

Language:

english

File:

PDF, 878 KB

english, 2016

33

Causes of death and life span in Finnish gelsolin amyloidosis

Schmidt, Eeva-Kaisa, Atula, Sari, Tanskanen, Maarit, Nikoskinen, Tuuli, Notkola, Irma-Leena, Kiuru-Enari, Sari

Journal:

Annals of Medicine

Year:

2016

Language:

english

File:

PDF, 794 KB

english, 2016

34

Gelsolin Amyloidosis as a Cause of Early Aging and Progressive Bilateral Facial Paralysis

Pihlamaa, Tiia, Rautio, Jorma, Kiuru-Enari, Sari, Suominen, Sinikka

Journal:

Plastic & Reconstructive Surgery

Year:

2011

Language:

english

File:

PDF, 1.42 MB

english, 2011

35

Intrafamilial clinical variability in individuals carrying the CHCHD10 mutation Gly66Val

Pasanen, P., Myllykangas, L., Pöyhönen, M., Kiuru-Enari, S., Tienari, P. J., Laaksovirta, H., Toppila, J., Ylikallio, E., Tyynismaa, H., Auranen, M.

Journal:

Acta Neurologica Scandinavica

Year:

2016

Language:

english

File:

PDF, 109 KB

english, 2016

36

Gelsolin amyloid angiopathy causes severe disruption of the arterial wall

Koskelainen, Susanna, Pihlamaa, Tiia, Suominen, Sinikka, Zhao, Fang, Salo, Tuula, Risteli, Juha, Baumann, Marc, Kalimo, Hannu, Kiuru-Enari, Sari

Journal:

Year:

2016

Language:

english

File:

PDF, 1.20 MB

english, 2016

37

CHCHD10 variant p.(Gly66Val) causes axonal Charcot-Marie-Tooth disease

Auranen, Mari, Ylikallio, Emil, Shcherbii, Maria, Paetau, Anders, Kiuru-Enari, Sari, Toppila, Jussi P., Tyynismaa, Henna

Journal:

Neurology: Genetics

Year:

2015

Language:

english

File:

PDF, 368 KB

english, 2015

38

Increasing amount of amyloid are associated with the severity of clinical features in hereditary gelsolin (AGel) amyloidosis

Pihlamaa, Tiia, Suominen, Sinikka, Kiuru-Enari, Sari, Tanskanen, Maarit

Journal:

Year:

2016

Language:

english

File:

PDF, 700 KB

english, 2016

39

Common origin of the gelsolin gene variant in 62 Finnish AGel amyloidosis families

Mustonen, Tuuli, Schmidt, Eeva-Kaisa, Valori, Miko, Tienari, Pentti J, Atula, Sari, Kiuru-Enari, Sari

Journal:

European Journal of Human Genetics

Year:

2017

Language:

english

File:

PDF, 614 KB

english, 2017

40

Outcome of Renal Transplant in Hereditary Gelsolin Amyloidosis

Shoja, Mohammadali M., Ardalan, Mohammad R., Tubbs, R Shane, Kiuru-Enari, Sari

Journal:

The American Journal of the Medical Sciences

Year:

2009

Language:

english

File:

PDF, 86 KB

english, 2009

41

Amyloid in parenchymal organs in gelsolin (AGel) amyloidosis

Schmidt, Eeva-Kaisa, Kiuru-Enari, Sari, Atula, Sari, Tanskanen, Maarit

Journal:

Year:

2019

Language:

english

File:

PDF, 1003 KB

english, 2019

42

Severe elastolysis in hereditary gelsolin (AGel) amyloidosis

Koskelainen, Susanna, Zhao, Fang, Kalimo, Hannu, Baumann, Marc, Kiuru-Enari, Sari

Journal:

Year:

2019

File:

PDF, 1.33 MB

2019

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