Valter Niemelä

Lifetime risk of cancer in carriers of intermediate alleles in the HTT gene

Sundblom, Jimmy; Bergdahl, Ingvar; Stattin, Eva-Lena; Niemelä, Valter

Part of Scientific Reports, 2026

• DOI for Lifetime risk of cancer in carriers of intermediate alleles in the HTT gene
• Download full text (pdf) of Lifetime risk of cancer in carriers of intermediate alleles in the HTT gene

Novel Clinical Insights From a Swedish RFC1 Spectrum Disorder Cohort

Alm, Victor; Säll, Linda; Samuelsson, Kristin; Press, Rayomand et al.

Part of European Journal of Neurology, 2026

• DOI for Novel Clinical Insights From a Swedish RFC1 Spectrum Disorder Cohort
• Download full text (pdf) of Novel Clinical Insights From a Swedish RFC1 Spectrum Disorder Cohort

Cerebrospinal fluid glial fibrillary acidic protein, in contrast to amyloid beta protein, is associated with disease symptoms in Huntington's disease

Korpela, Sara; Sundblom, Jimmy; Zetterberg, Henrik; Constantinescu, Radu et al.

Part of Journal of the Neurological Sciences, 2024

• DOI for Cerebrospinal fluid glial fibrillary acidic protein, in contrast to amyloid beta protein, is associated with disease symptoms in Huntington's disease
• Download full text (pdf) of Cerebrospinal fluid glial fibrillary acidic protein, in contrast to amyloid beta protein, is associated with disease symptoms in Huntington's disease

Case report: a novel deep intronic splice-altering variant in DMD as a cause of Becker muscular dystrophy

Ghaderi Berntsson, Shala; Matsson, Hans; Kristoffersson, Anna; Niemelä, Valter et al.

Part of Frontiers in Genetics, 2023

• DOI for Case report: a novel deep intronic splice-altering variant in DMD as a cause of Becker muscular dystrophy
• Download full text (pdf) of Case report: a novel deep intronic splice-altering variant in DMD as a cause of Becker muscular dystrophy

Levels of inflammatory cytokines MCP-1, CCL4, and PD-L1 in CSF differentiate idiopathic normal pressure hydrocephalus from neurodegenerative diseases

Braun, Madelen; Boström, Gustaf; Ingelsson, Martin; Kilander, Lena et al.

Part of Fluids and Barriers of the CNS, 2023

• DOI for Levels of inflammatory cytokines MCP-1, CCL4, and PD-L1 in CSF differentiate idiopathic normal pressure hydrocephalus from neurodegenerative diseases
• Download full text (pdf) of Levels of inflammatory cytokines MCP-1, CCL4, and PD-L1 in CSF differentiate idiopathic normal pressure hydrocephalus from neurodegenerative diseases

Lifetime risk of cancer in carriers of intermediate alleles in the HTT gene

Sundblom, Jimmy; Bergdahl, Ingvar; Stattin, Eva-Lena; Niemelä, Valter

Part of Scientific Reports, 2026

• DOI for Lifetime risk of cancer in carriers of intermediate alleles in the HTT gene
• Download full text (pdf) of Lifetime risk of cancer in carriers of intermediate alleles in the HTT gene

Novel Clinical Insights From a Swedish RFC1 Spectrum Disorder Cohort

Alm, Victor; Säll, Linda; Samuelsson, Kristin; Press, Rayomand et al.

Part of European Journal of Neurology, 2026

• DOI for Novel Clinical Insights From a Swedish RFC1 Spectrum Disorder Cohort
• Download full text (pdf) of Novel Clinical Insights From a Swedish RFC1 Spectrum Disorder Cohort

Cerebrospinal fluid glial fibrillary acidic protein, in contrast to amyloid beta protein, is associated with disease symptoms in Huntington's disease

Korpela, Sara; Sundblom, Jimmy; Zetterberg, Henrik; Constantinescu, Radu et al.

Part of Journal of the Neurological Sciences, 2024

• DOI for Cerebrospinal fluid glial fibrillary acidic protein, in contrast to amyloid beta protein, is associated with disease symptoms in Huntington's disease
• Download full text (pdf) of Cerebrospinal fluid glial fibrillary acidic protein, in contrast to amyloid beta protein, is associated with disease symptoms in Huntington's disease

Case report: a novel deep intronic splice-altering variant in DMD as a cause of Becker muscular dystrophy

Ghaderi Berntsson, Shala; Matsson, Hans; Kristoffersson, Anna; Niemelä, Valter et al.

Part of Frontiers in Genetics, 2023

• DOI for Case report: a novel deep intronic splice-altering variant in DMD as a cause of Becker muscular dystrophy
• Download full text (pdf) of Case report: a novel deep intronic splice-altering variant in DMD as a cause of Becker muscular dystrophy

Levels of inflammatory cytokines MCP-1, CCL4, and PD-L1 in CSF differentiate idiopathic normal pressure hydrocephalus from neurodegenerative diseases

Braun, Madelen; Boström, Gustaf; Ingelsson, Martin; Kilander, Lena et al.

Part of Fluids and Barriers of the CNS, 2023

• DOI for Levels of inflammatory cytokines MCP-1, CCL4, and PD-L1 in CSF differentiate idiopathic normal pressure hydrocephalus from neurodegenerative diseases
• Download full text (pdf) of Levels of inflammatory cytokines MCP-1, CCL4, and PD-L1 in CSF differentiate idiopathic normal pressure hydrocephalus from neurodegenerative diseases

Genetic screening for Huntington disease phenocopies in Sweden: A tertiary center case series focused on short tandem repeat (STR) disorders

Paucar, Martin; Laffita-Mesa, José; Niemelä, Valter; Malmgren, Helena et al.

Part of Journal of the Neurological Sciences, 2023

• DOI for Genetic screening for Huntington disease phenocopies in Sweden: A tertiary center case series focused on short tandem repeat (STR) disorders
• Download full text (pdf) of Genetic screening for Huntington disease phenocopies in Sweden: A tertiary center case series focused on short tandem repeat (STR) disorders

Higher levels of neurofilament light chain and total tau in CSF are associated with negative outcome after shunt surgery in patients with normal pressure hydrocephalus

Braun, Madelen; Bjurnemark, Caroline; Seo, Woosung; Freyhult, Eva et al.

Part of Fluids and Barriers of the CNS, 2022

• DOI for Higher levels of neurofilament light chain and total tau in CSF are associated with negative outcome after shunt surgery in patients with normal pressure hydrocephalus
• Download full text (pdf) of Higher levels of neurofilament light chain and total tau in CSF are associated with negative outcome after shunt surgery in patients with normal pressure hydrocephalus

Proenkephalin Decreases in Cerebrospinal Fluid with Symptom Progression of Huntington's Disease

Niemelä, Valter; Landtblom, Anne-Marie; Nyholm, Dag; Kneider, Maria et al.

Part of Movement Disorders, p. 481-491, 2021

• DOI for Proenkephalin Decreases in Cerebrospinal Fluid with Symptom Progression of Huntington's Disease
• Download full text (pdf) of Proenkephalin Decreases in Cerebrospinal Fluid with Symptom Progression of Huntington's Disease

Sjukdomsmarkörer för Huntingtons sjukdom

Niemelä, Valter

Part of Neurologi i Sverige, p. 52-55, 2021

Phenotypic variability in chorea-acanthocytosis associated with novel VPS13A mutations

Niemelä, Valter; Salih, Ammar; Solea, Daniela; Lindvall, Bjoern et al.

Part of Neurology Genetics, 2020

• DOI for Phenotypic variability in chorea-acanthocytosis associated with novel VPS13A mutations
• Download full text (pdf) of Phenotypic variability in chorea-acanthocytosis associated with novel VPS13A mutations

Aniridia with PAX6 mutations and narcolepsy

Ghaderi Berntsson, Shala; Kristoffersson, Anna; Daniilidou, Makrina; Dahl, Niklas et al.

Part of Journal of Sleep Research, 2020

• DOI for Aniridia with PAX6 mutations and narcolepsy

High frequency of intermediary alleles in the HTT gene in Northern Sweden: The Swedish Huntingtin Alleles and Phenotype (SHAPE) study

Sundblom, Jimmy; Niemelä, Valter; Ghazarian, Maria; Strand, Ann-Sofi et al.

Part of Scientific Reports, 2020

• DOI for High frequency of intermediary alleles in the HTT gene in Northern Sweden: The Swedish Huntingtin Alleles and Phenotype (SHAPE) study
• Download full text (pdf) of High frequency of intermediary alleles in the HTT gene in Northern Sweden: The Swedish Huntingtin Alleles and Phenotype (SHAPE) study

Alterations in the tyrosine and phenylalanine pathways revealed by biochemical profiling in cerebrospinal fluid of Huntington's disease subjects

Herman, Stephanie; Niemelä, Valter; Emami Khoonsari, Payam; Sundblom, Jimmy et al.

Part of Scientific Reports, 2019

• DOI for Alterations in the tyrosine and phenylalanine pathways revealed by biochemical profiling in cerebrospinal fluid of Huntington's disease subjects
• Download full text (pdf) of Alterations in the tyrosine and phenylalanine pathways revealed by biochemical profiling in cerebrospinal fluid of Huntington's disease subjects

Measurement of sCD27 in the cerebrospinal fluid identifies patients with neuroinflammatory disease

Feresiadou, Amalia; Nilsson, Kenneth; Ingelsson, Martin; Press, Rayomand et al.

Part of Journal of Neuroimmunology, p. 31-36, 2019

• DOI for Measurement of sCD27 in the cerebrospinal fluid identifies patients with neuroinflammatory disease

Cerebrospinal fluid sCD27 levels indicate active T cell-mediated inflammation in premanifest Huntington's disease

Niemelä, Valter; Burman, Joachim; Blennow, Kaj; Zetterberg, Henrik et al.

Part of PLOS ONE, 2018

• DOI for Cerebrospinal fluid sCD27 levels indicate active T cell-mediated inflammation in premanifest Huntington's disease
• Download full text (pdf) of Cerebrospinal fluid sCD27 levels indicate active T cell-mediated inflammation in premanifest Huntington's disease

Tau or neurofilament light - Which is the more suitable biomarker for Huntington’s disease?

Niemelä, Valter; Landtblom, Anne-Marie; Blennow, Kaj; Sundblom, Jimmy

Part of PLOS ONE, 2017

• DOI for Tau or neurofilament light - Which is the more suitable biomarker for Huntington’s disease?
• Download full text (pdf) of Tau or neurofilament light - Which is the more suitable biomarker for Huntington’s disease?

Cognitive decline in Huntington’s disease expansion gene carriers

Baake, Verena; Niemelä, Valter; Registry Investigators, of Europe; Roos, Raymund

Part of Cortex, p. 51-62, 2017

• DOI for Cognitive decline in Huntington’s disease expansion gene carriers

Narcolepsy as a side effect of swine flu vaccination

Bostöm, I.; Ghaderi Berntsson, Shala; Zheliba, N.; Gauffin, H. et al.

Part of Journal of the Neurological Sciences, p. 189-189, 2017

• DOI for Narcolepsy as a side effect of swine flu vaccination

Psychosis in patients with narcolepsy as an adverse effect of sodium oxybate

Sarkanen, Tomi; Niemelä, Valter; Landtblom, Anne-Marie; Partinen, Markku

Part of Frontiers in Neurology, 2014

• DOI for Psychosis in patients with narcolepsy as an adverse effect of sodium oxybate
• Download full text (pdf) of Psychosis in patients with narcolepsy as an adverse effect of sodium oxybate

Huntingtons sjukdom – kliniska prövningar inger nu optimism

Niemelä, Valter; Petersén, Åsa; Loutfi, Ghada; Svenningsson, Per et al.

Part of Läkartidningen, 2020

Mapping the Huntington's disease process using cerebrospinal fluid analysis

Niemelä, Valter

2019

• Download full text (pdf) of Mapping the Huntington's disease process using cerebrospinal fluid analysis

Exploratory Assessment of Candidate Biomarkers in Narcolepsy: Identification and Validation in H1N1-Vaccinated Cohorts at the Proteome and Transcriptome Levels

Lafta, Muataz S.; Sokolov, Aleksandr V.; Mattis, Kitok; Berntsson, Shala et al.