Maila Penttinen

1.3k citations

31 papers · 920 indexed · h-index 19

Co-authors: Ilkka Kantola Pirjo Nuutila Vesa Juvonen Marja‐Liisa Savontaus Riikka Kalliokoski Kari K. Kalliokoski Olli T. Raitakari Jorma Viikari
Topics: Lysosomal Storage Disorders Research (8 papers)Mitochondrial Function and Pathology (7 papers)Genetic Neurodegenerative Diseases (4 papers)
Cited by: Neurology Physiology Rheumatology
Journals: Journal of Molecular Biology Annals of Neurology Clinical Neurophysiology
Partner nations: Finland United States Germany

In The Last Decade

Maila Penttinen

30 papers receiving 889 citations

Peers

Countries citing papers authored by Maila Penttinen

Since Specialization

Citations

This map shows the geographic impact of Maila Penttinen's research. It shows the number of citations coming from papers published by authors working in each country. You can also color the map by specialization and compare the number of citations received by Maila Penttinen with the expected number of citations based on a country's size and research output (numbers larger than one mean the country cites Maila Penttinen more than expected).

Fields of papers citing papers by Maila Penttinen

Since Specialization

Physical SciencesHealth SciencesLife SciencesSocial Sciences

This network shows the impact of papers produced by Maila Penttinen. Nodes represent research fields, and links connect fields that are likely to share authors. Colored nodes show fields that tend to cite the papers produced by Maila Penttinen. The network helps show where Maila Penttinen may publish in the future.

Co-authorship network of co-authors of Maila Penttinen

This figure shows the co-authorship network connecting the top 25 collaborators of Maila Penttinen. A scholar is included among the top collaborators of Maila Penttinen based on the total number of citations received by their joint publications. Widths of edges represent the number of papers authors have co-authored together. Node borders signify the number of papers an author published with Maila Penttinen. Maila Penttinen is excluded from the visualization to improve readability, since they are connected to all nodes in the network.

All Works

Sort: Min cites: Since: Top N: Style:

20 of 20 papers shown

#	Work	Indexed citations
1	Molecular Analysis of Two Novel Missense Mutations in the GDF5 Proregion That Reduce Protein Activity and Are Associated with Brachydactyly Type C 2014 ·Journal of Molecular Biology ·(unknown),(unknown),(unknown),(unknown),Andreas Janecke,Hildegunde Piza‐Katzer,Maila Penttinen,Marja Hietala,Katarina Dathe,Stefan Mundlos,Elisabeth Schwarz,Petra Seemann	10
2	Translation of a Research-Based Genetic Test on a Rare Syndrome into Clinical Service Testing, with Sotos Syndrome As an Example 2012 ·Genetic Testing and Molecular Biomarkers ·(unknown),Maarit Peippo,Maila Penttinen,Klaus Elenius,Helena Kääriäinen	3
3	Terminal 3p deletions in two families—Correlation between molecular karyotype and phenotype 2010 ·American Journal of Medical Genetics Part A ·(unknown),Nicole de Leeuw,Maila Penttinen,Helena Kääriäinen	42
4	Genitopatellar syndrome in an adolescent female with severe osteoporosis and endocrine abnormalities 2009 ·American Journal of Medical Genetics Part A ·Maila Penttinen,Hannele Koillinen,Harri Niinikoski,Outi Mäkitie,Marja Hietala	14
5	Neuropathic symptoms and findings in women with Fabry disease 2008 ·Clinical Neurophysiology ·(unknown),Matias Röyttä,Satu K. Jääskeläinen,Ilkka Kantola,Maila Penttinen,Björn Falck	57
6	Missense mutations to the TSC1 gene cause tuberous sclerosis complex 2008 ·European Journal of Human Genetics ·Mark Nellist,Diana van den Heuvel,(unknown),(unknown),Miriam Goedbloed,Anneke Maat‐Kievit,Ton van Essen,Karin van Spaendonck‐Zwarts,Floor E. Jansen,(unknown),G. Bartalini,Outi Vierimaa,Maila Penttinen,Jenneke van den Ende,Ans van den Ouweland,Dicky Halley	21
7	A familial CHARGE syndrome with a CHD7 nonsense mutation and new clinical features 2008 ·Clinical Dysmorphology ·(unknown),Maila Penttinen,Marja Hietala,(unknown),Kirsi Huoponen,H Kääriäinen	16
8	Molecular analysis of the CHD7 gene in CHARGE syndrome: identification of 22 novel mutations and evidence for a low contribution of large CHD7 deletions 2007 ·Genetics in Medicine ·(unknown),Sirpa Ala‐Mello,Carola Saloranta,Maila Penttinen,Minna Pöyhönen,Kirsi Huoponen,Wiktor Borozdin,Birke Bausch,Elke Botzenhart,Christian Wilhelm,Helena Kääriäinen,Jürgen Kohlhase	38
9	Structural and functional changes in peripheral vasculature of Fabry patients 2006 ·Journal of Inherited Metabolic Disease ·Riikka Kalliokoski,Kari K. Kalliokoski,Maila Penttinen,Ilkka Kantola,Aila Leino,Jorma Viikari,Olli Simell,Pirjo Nuutila,Olli T. Raitakari	50
10	[Fabry's disease, recommendation for diagnostics, follow up and treatment in Finland]. 2004 ·PubMed ·Maila Penttinen,Ilkka Kantola,Pirjo Nuutila,Aki Hietaharju,Eero Honkanen,Ilkka Kaitila,Leo Niskanen,Markku J. Savolainen,Jorma Viikari	2
11	Detection of the founder effect in Finnish CADASIL families 2004 ·European Journal of Human Genetics ·Kati Mykkänen,Marja‐Liisa Savontaus,Vesa Juvonen,Pertti Sistonen,Seppo Tuisku,Susanna Tuominen,Maila Penttinen,Johan Lundkvist,Matti Viitanen,Hannu Kalimo,Minna Pöyhönen	43
12	Enrichment of the R77C α‐sarcoglycan gene mutation in finnish LGMD2D patients 2004 ·Muscle & Nerve ·Peter Hackman,Vesa Juvonen,J. Sarparanta,Maila Penttinen,T Äärimaa,(unknown),Mari Auranen,Helena Pihko,Reija Alén,(unknown),Tuula Lönnqvist,Hannu Kalimo,Bjarne Udd	21
13	Dissecting the epidemiology of a trinucleotide repeat disease – example of FRDA in Finland 2001 ·Human Genetics ·Vesa Juvonen,(unknown),Jaakko Ignatius,Maila Penttinen,Marja‐Liisa Savontaus	28
14	The mutation spectrum of the EDA gene in X-linked anhidrotic ectodermal dysplasia 2001 ·Human Mutation ·Kati Pääkkönen,Stefano Cambiaghi,Giuseppe Novelli,(unknown),Maila Penttinen,Juha Kere,Anand K. Srivastava	59
15	Prenatal diagnosis of variant late infantile neuronal ceroid lipofuscinosis (vLINCLFinnish; CLN5) 1999 ·Prenatal Diagnosis ·Juhani Rapola,Jaana Lähdetie,Juha Isosomppi,Päivi Helminen,Maila Penttinen,Irma Järvelä	14
16	Gross deletions of the neurofibromatosis type 1 (NF1) gene are predominantly of maternal origin and commonly associated with a learning disability, dysmorphic features and developmental delay 1998 ·Human Genetics ·Meena Upadhyaya,Martino Ruggieri,Julie Maynard,M. Osborn,(unknown),S. Harvey Mudd,Maila Penttinen,(unknown),Margaret A. Ponder,Bruce A.J. Ponder,Michael Krawczak,D.N. Cooper	117
17	Tissue distribution of the ND4/11778 mutation in heteroplasmic lineages with Leber hereditary optic neuropathy 1997 ·Human Mutation ·Vesa Juvonen,Eeva Nikoskelainen,Tarja Lamminen,Maila Penttinen,Pertti Aula,Marja‐Liisa Savontaus	18
18	Early ultrasound diagnosis of fetal intracranial tumors 1994 ·Journal of Clinical Ultrasound ·Pertti Palo,Maila Penttinen,Hannu Kalimo	11
19	Ring Chromosome 20 Mosaicism in a Girl with Complex Partial Seizures 1994 ·Developmental Medicine & Child Neurology ·I. Holopainen,Maila Penttinen,(unknown),(unknown)	35
20	Linkage to Xq28 in a family with nonspecific X-linked mental retardation 1992 ·Human Genetics ·(unknown),Maila Penttinen,Harriet von Koskull	29

About Maila Penttinen

Maila Penttinen is a scholar working on Developmental Biology, Neurology and Physiology, having authored 31 papers that have together received 920 indexed citations. Recurring topics across this work include Lysosomal Storage Disorders Research (8 papers), Mitochondrial Function and Pathology (7 papers) and Genetic Neurodegenerative Diseases (4 papers). The work is most often cited by research in Neurology (219 citations), Physiology (264 citations) and Rheumatology (151 citations). Maila Penttinen has collaborated with scholars based in Finland, United States and Germany. Frequent co-authors include Ilkka Kantola, Pirjo Nuutila, Vesa Juvonen, Marja‐Liisa Savontaus, Riikka Kalliokoski, Kari K. Kalliokoski, Olli T. Raitakari, Jorma Viikari, Juhani Knuuti and Helena Kääriäinen. Their work appears in journals such as Journal of Molecular Biology, Annals of Neurology and Clinical Neurophysiology.

Rankless uses publication and citation data sourced from OpenAlex, an open and comprehensive bibliographic database. While OpenAlex provides broad and valuable coverage of the global research landscape, it—like all bibliographic datasets—has inherent limitations. These include incomplete records, variations in author disambiguation, differences in journal indexing, and delays in data updates. As a result, some metrics and network relationships displayed in Rankless may not fully capture the entirety of a scholar's output or impact.

Explore authors with similar magnitude of impact