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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

Neuropathy in familial amyloidosis, Finnish type (FAF): Electrophysiological studies

Sari Kiuru, Anna-Maria Seppäläinen

Journal:

Year:

1994

Language:

english

File:

PDF, 588 KB

english, 1994

3

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

4

Senile systemic amyloidosis affects 25% of the very aged and associates with genetic variation in alpha2‐macroglobulin and tau : A population‐based autopsy study

Tanskanen, Maarit, Peuralinna, Terhi, Polvikoski, Tuomo, Notkola, Irma‐Leena, Sulkava, Raimo, Hardy, John, Singleton, Andrew, Kiuru‐Enari, Sari, Paetau, Anders, Tienari, Pentti J., Myllykangas, Liisa

Journal:

Annals of Medicine

Year:

2008

Language:

english

File:

PDF, 272 KB

english, 2008

5

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

6

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

7

Gelsolin-related spinal and cerebral amyloid angiopathy

Sari Kiuru, Oili Salonen, Matti Haltia

Journal:

Annals of Neurology

Year:

1999

Language:

english

File:

PDF, 506 KB

english, 1999

8

Haplotype analysis in gelsoiin-related amyloidosis reveals independent origin of identical mutation (G654A) of gelsolin in Finland and Japan

Tiina Paunio, Yoshihide Sunada, Sari Kiuru, Hideo Makishita, Shu-Ichi Ikeda, Jean Weissenbach, Jorma Palo, Leena Peltonen

Journal:

Year:

1995

Language:

english

File:

PDF, 521 KB

english, 1995

9

Camptocormia, a new side effect of sodium valproate

Sari Kiuru, Matti Iivanainen

Journal:

Epilepsy Research

Year:

1987

Language:

english

File:

PDF, 372 KB

english, 1987

10

Obstructive sleep apnoea syndrome in hereditarygelsolin-related amyloidosis

Sari Kiuru, Tuula Nieminen, Markku Partinen

Journal:

Journal of Sleep Research

Year:

1999

Language:

english

File:

PDF, 158 KB

english, 1999

11

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

12

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

13

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

14

Amyloid protein in familial amyloidosis (Finnish type) is homologous to gelsolin, an actin-binding protein

Matti Haltia, Frances Prelli, Jorge Ghiso, Sari Kiuru, Hannu Somer, Jorma Palo, Blas Frangione

Journal:

Biochemical and Biophysical Research Communications

Year:

1990

Language:

english

File:

PDF, 1.31 MB

english, 1990

15

Is the nucleotide 654 of the geisolin gene a mutational hot spot?

Tiina Paunio, Yoshihide Sunada, Robert Steiner, Sari Kiuru, Hideo Makishita, Shu-ichi lkeda, Tomoyuki Uemichi, Merril D. Benson, Jorma Palo, L. Peltonen

Journal:

Neuromuscular Disorders

Year:

1996

Language:

english

File:

PDF, 97 KB

english, 1996

16

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

17

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

18

Tissue distribution and levels of gelsolin mRNA in normal individuals and patients with gelsolin-related amyloidosis

Tiina Paunio, Hannele Kangas, Sari Kiuru, Jorma Palo, Leena Peltonen, Ann-Christine Syvänen

Journal:

Year:

1997

Language:

english

File:

PDF, 787 KB

english, 1997

19

Autonomic nervous system and cardiac involvement in familial amyloidosis, Finnish type (FAF)

Sari Kiuru, Esko Matikainen, Markku Kupari, Matti Haltia, Jorma Palo

Journal:

Journal of the Neurological Sciences

Year:

1994

Language:

english

File:

PDF, 976 KB

english, 1994

20

Serum gelsolin and rhabdomyolysis

Mervi Löfberg, Tiina Paunio, Riitta Tähtelä, Sari Kiuru, Hannu Somer

Journal:

Journal of the Neurological Sciences

Year:

1998

Language:

english

File:

PDF, 238 KB

english, 1998

21

[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

22

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

23

Gelsolin variant and β-amyloid co-occur in a case of Alzheimer's with Lewy bodies

Haltia, Matti, Ghiso, Jorge, Wisniewski, Thomas, Kiuru, Sari, Miller, Douglas, Frangione, Blas

Journal:

Neurobiology of Aging

Year:

1991

Language:

english

File:

PDF, 726 KB

english, 1991

24

Solid-phase minisequencing test reveals Asp187 → Asn (G654 → A) mutation of gelsolin in all affected individuals with finnish type of familial amyloidosis

Paunio, Tiina, Kiuru, Sari, Hongell, Vera, Mustonen, Eila, Syyänen, Ann-Christine, Bengtström, Marina, Palo, Jorma, Peltonen, Leena

Journal:

Year:

1992

Language:

english

File:

PDF, 416 KB

english, 1992

25

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

26

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

27

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

28

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

29

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

30

5. Familial amyloidosis, Finnish type (FAF). Clinical, histological and amyloid protein studies

Journal:

Year:

2000

Language:

english

File:

PDF, 158 KB

english, 2000

31

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

32

Quantification of serum and cerebrospinal fluid gelsolin in familial amyloidosis, Finnish type (AGel)

Paunio, Tiina, Kiuru, Sari, Karonen, Sirkka-Liisa, Palo, Jorma, Peltonen, Leena

Journal:

Year:

1994

Language:

english

File:

PDF, 1.78 MB

english, 1994

33

Gelsolin-related familial amyloidosis, Finnish type (FAF), and its variants found worldwide

Journal:

Year:

1998

Language:

english

File:

PDF, 2.15 MB

english, 1998

34

CNS abnormalities in patients with familial amyloidosis, Finnish type (FAF)

Kiuru, Sari, Seppäläinen, Anna-Maria, Salonen, Oili, Hokkanen, Laura, Somer, Hannu, Palo, Jorma

Journal:

Year:

1995

Language:

english

File:

PDF, 1.17 MB

english, 1995

35

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

36

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

37

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

38

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

39

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

40

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

41

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

42

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

43

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

44

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

45

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

46

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

47

CASE REPORTS: Bilateral Femoral Fatigue Fracture

Salminen, Sari T, B??stman, Ole M, Kiuru, Martti J, Pihlajam??ki, Harri K

Journal:

Clinical Orthopaedics and Related Research®

Year:

2007

Language:

english

File:

PDF, 366 KB

english, 2007

48

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

49

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

50

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