T. Linnankivi

发表

De novo mutations in synaptic transmission genes including DNM1 cause epileptic encephalopathies.

Michael R. Johnson, I. Scheffer, H. Mefford, 2014, American journal of human genetics.

A Recurrent Missense Variant in AP2M1 Impairs Clathrin-Mediated Endocytosis and Causes Developmental and Epileptic Encephalopathy.

Kenneth D. Mandl, Allison P. Heath, Eric Marsh, 2019, American journal of human genetics.

Defining the phenotypic spectrum of SLC6A1 mutations

G. Carvill, H. Mefford, P. Striano, 2018, Epilepsia.

De novo loss- or gain-of-function mutations in KCNA2 cause epileptic encephalopathy

Maja Steinlin, Markus Wolff, Holger Lerche, 2015, Nature Genetics.

De novo loss-of-function mutations in CHD2 cause a fever-sensitive myoclonic epileptic encephalopathy sharing features with Dravet syndrome.

Holger Lerche, Renzo Guerrini, Christel Depienne, 2013, American journal of human genetics.

Epilepsy subtype-specific copy number burden observed in a genome-wide study of 17 458 subjects.

Colin A. Ellis, M. Daly, I. Scheffer, 2020, Brain : a journal of neurology.

Characterization of human disease phenotypes associated with mutations in TREX1, RNASEH2A, RNASEH2B, RNASEH2C, SAMHD1, ADAR, and IFIH1

L. Lagae, A. Vanderver, K. Devriendt, 2015, American journal of medical genetics. Part A.

Molecular characterization of folate receptor 1 mutations delineates cerebral folate transport deficiency.

J. Gärtner, T. Linnankivi, T. Lücke, 2012, Brain : a journal of neurology.

Erratum: De Novo Mutations in Synaptic Transmission Genes Including DNM1 Cause Epileptic Encephalopathies (American Journal of Human Genetics (2014) 95(4) (360–370)(S0002929714003838)(10.1016/j.ajhg.2014.08.013))

Michael R. Johnson, I. Scheffer, H. Mefford, 2017 .

Exome sequencing reveals predominantly de novo variants in disorders with intellectual disability (ID) in the founder population of Finland

J. Lupski, S. Leal, S. Jhangiani, 2021, Human Genetics.

Psychological symptoms and sleep disturbances in neuronal ceroid-lipofuscinoses (NCL)

T. Telakivi, J. Jaeken, T. Linnankivi, 1993, Journal of Inherited Metabolic Disease.

Mutations in GRIN2A cause idiopathic focal epilepsy with rolandic spikes

U. Stephani, H. Lerche, J. Serratosa, 2013, Nature Genetics.

Mutations in CTC1, encoding the CTS telomere maintenance complex component 1, cause cerebroretinal microangiopathy with calcifications and cysts.

O. Mäkitie, D. Pareyson, I. Hovatta, 2012, American journal of human genetics.

Cerebroretinal microangiopathy with calcifications and cysts

A. Paetau, R. Vanninen, O. Mäkitie, 2006, Neurology.

Visual field defects after vigabatrin treatment during infancy: retrospective population‐based study

S. Vanhatalo, E. Gaily, T. Linnankivi, 2021, Developmental medicine and child neurology.

Phenotypic and Imaging Spectrum Associated With WDR45.

Denise L. Perry, A. Vanderver, R. Taft, 2020, Pediatric neurology.

Cerebroretinal microangiopathy with calcifications and cysts, Revesz syndrome and aplastic anemia

O. Mäkitie, T. Kivelä, A. Lehesjoki, 2013, Bone Marrow Transplantation.

Selenoprotein biosynthesis defect causes progressive encephalopathy with elevated lactate

A. Paetau, D. Söll, G. Corthals, 2015, Neurology.

Neuroimaging and neurological findings in patients with hypochondroplasia and FGFR3 N540K mutation

O. Mäkitie, L. Valanne, T. Linnankivi, 2012, American journal of medical genetics. Part A.

Leukoencephalopathy with brainstem and spinal cord involvement and lactate elevation: clinical and genetic characterization and target for therapy

I. Krägeloh-Mann, G. Scheper, M. Knaap, 2014 .

Biallelic Variants in UBA5 Link Dysfunctional UFM1 Ubiquitin-like Modifier Pathway to Severe Infantile-Onset Encephalopathy.

M. Hurles, A. Paetau, A. Palotie, 2016, American journal of human genetics.

De novo variants in neurodevelopmental disorders with epilepsy

M. Daly, P. May, Sitao Wu, 2018, Nature Genetics.

Ultra-rare genetic variation in the epilepsies: a whole-exome sequencing study of 17,606 individuals

Michael R. Johnson, S. Gabriel, M. Daly, 2019, bioRxiv.

GRIN2B encephalopathy: novel findings on phenotype, variant clustering, functional consequences and treatment aspects

Anup D. Patel, Ethan M. Goldberg, I. Scheffer, 2017, Journal of Medical Genetics.

De novo variants in neurodevelopmental disorders with epilepsy

M. Daly, P. May, Sitao Wu, 2018, Nature Genetics.

Leukoencephalopathies in childhood : Delineation of phenotypes

T. Linnankivi, 2006 .

18q deletions: Clinical, molecular, and brain MRI findings of 14 individuals

P. Tienari, H. Pihko, L. Valanne, 2006, American journal of medical genetics. Part A.

Leukoencephalopathies in childhood

T. Linnankivi, 2006 .

Sub-genic intolerance, ClinVar, and the epilepsies: A whole-exome sequencing study of 29,165 individuals.

Ethan M. Goldberg, Joshua E. Motelow, I. Scheffer, 2021, American journal of human genetics.

The spectrum of intermediate SCN8A‐related epilepsy

M. Hammer, P. Striano, A. Coppola, 2019, Epilepsia.

Hypomyelination with atrophy of the basal ganglia and cerebellum

A. Paetau, R. Schiffmann, S. Blaser, 2007, Neurology.

A case of Salla disease with involvement of the cerebellar white matter

T. Autti, T. Linnankivi, T. Lönnqvist, 2003, Neuroradiology.

Five new cases of a recently described leukoencephalopathy with high brain lactate

A. Häkkinen, N. Lundbom, T. Autti, 2004, Neurology.

in mitochondrial leukoencephalopathy and multiple sclerosis

T. Pirttilä, K. Koivisto, I. Elovaara, 2011 .

DARS2 mutations in mitochondrial leucoencephalopathy and multiple sclerosis

T. Pirttilä, K. Koivisto, I. Elovaara, 2009, Journal of Medical Genetics.

POLG1 manifestations in childhood

A. Paetau, A. Suomalainen, H. Pihko, 2011, Neurology.

Splicing Defect in Mitochondrial Seryl‐tRNA Synthetase Gene Causes Progressive Spastic Paresis Instead of HUPRA Syndrome

T. Linnankivi, P. Isohanni, H. Tyynismaa, 2016, Human mutation.

18q− Syndrome: Brain MRI shows poor differentiation of gray and white matter on T2‐weighted images

T. Autti, P. Tienari, L. Valanne, 2003, Journal of magnetic resonance imaging : JMRI.

Cerebroretinal microangiopathy with calcifications and cysts: Characterization of the skeletal phenotype

O. Mäkitie, T. Linnankivi, S. Toiviainen-Salo, 2011, American journal of medical genetics. Part A.

Intrafamilial variability in SLC6A1-related neurodevelopmental disorders

G. Rubboli, R. Møller, M. V. van Slegtenhorst, 2023, Frontiers in neuroscience.

The Spectrum of de novo Variants in Neurodevelopmental Disorders with Epilepsy

P. Striano, J. Kosmicki, Manuela Pendziwiat, 2017, bioRxiv.

De Novo Mutations in Synaptic Transmission Genes Including DNM1 Cause Epileptic Encephalopathies.

H. Mefford, P. May, R. Krause, 2017, American journal of human genetics.

GWAS meta-analysis of over 29,000 people with epilepsy identifies 26 risk loci and subtype-specific genetic architecture

Ethan M. Goldberg, Andreas M. Koupparis, W. C. Stewart, 2023, Nature Genetics.

author-version of: De novo variants in neurodevelopmental disorders with epilepsy

J. Serratosa, J. Kosmicki, Manuela Pendziwiat, 2022 .

Splicing Defect in Mitochondrial Seryl‐tRNA Synthetase Gene Causes Progressive Spastic Paresis Instead of HUPRA Syndrome

T. Linnankivi, P. Isohanni, H. Tyynismaa, 2016, Human mutation.

Clinical and electrophysiological features of SCN8A variants causing episodic or chronic ataxia

H. Lerche, E. Gaily, E. Gardella, 2023, medRxiv.