Search Results - "Nennesmo, I."

Cardiomyopathy with lethal arrhythmias associated with inactivation of KLHL24 by Hedberg-Oldfors, Carola, Abramsson, Alexandra, Osborn, Daniel P S, Danielsson, Olof, Fazlinezhad, Afsoon, Nilipour, Yalda, Hübbert, Laila, Nennesmo, Inger, Visuttijai, Kittichate, Bharj, Jaipreet, Petropoulou, Evmorfia, Shoreim, Azza, Vona, Barbara, Ahangari, Najmeh, López, Marcela Dávila, Doosti, Mohammad, Banote, Rakesh Kumar, Maroofian, Reza, Edling, Malin, Taherpour, Mehdi, Zetterberg, Henrik, Karimiani, Ehsan Ghayoor, Oldfors, Anders, Jamshidi, Yalda

“…Abstract Hypertrophic cardiomyopathy (HCM) is the most common inherited cardiovascular disorder, yet the genetic cause of up to 50% of cases remains unknown…”
Get full text

A high incidence of disease flares in an open pilot study of infliximab in patients with refractory inflammatory myopathies by Dastmalchi, M, Grundtman, C, Alexanderson, H, Mavragani, C P, Einarsdottir, H, Helmers, S Barbasso, Elvin, K, Crow, M K, Nennesmo, I, Lundberg, I E

“…To investigate the effect of the tumour necrosis factor (TNF) blocking agent infliximab in patients with treatment-resistant inflammatory myopathies. A total…”
Get more information

A multi-systemic mitochondrial disorder due to a dominant p.Y955H disease variant in DNA polymerase gamma by Siibak, Triinu, Clemente, Paula, Bratic, Ana, Bruhn, Helene, Kauppila, Timo E S, Macao, Bertil, Schober, Florian A, Lesko, Nicole, Wibom, Rolf, Naess, Karin, Nennesmo, Inger, Wedell, Anna, Peter, Bradley, Freyer, Christoph, Falkenberg, Maria, Wredenberg, Anna

“…Mutations in the mitochondrial DNA polymerase, POLG, are associated with a variety of clinical presentations, ranging from early onset fatal brain disease in…”
Get full text

Late-onset limb-girdle muscular dystrophy caused by GMPPB -mutation by Balcin, H, Palmio, J, Nennesmo, I, Solders, G, Udd, B

Get full text

Hypertrophic cardiomyopathy and abnormal glycogen storage in heart and skeletal muscle associated with inactivation of KLHL24 by Hedberg-Oldfors, C, Danielsson, O, Hübbert, L, Nennesmo, I, Abramsson, A, Banote, R, Edling, M, Zetterberg, H, Oldfors, A

Get full text

Signs of inflammation in both symptomatic and asymptomatic muscles from patients with polymyositis and dermatomyositis by Dorph, C, Englund, P, Nennesmo, I, Lundberg, I E

“…Objectives: To determine whether muscle weakness is correlated with inflammation, expression of interleukin 1α (IL1α) and major histocompatibility complex…”
Get full text

Neuropathologic Assessment of Dementia Markers in Identical and Fraternal Twins by Iacono, Diego, Volkman, Inga, Nennesmo, Inger, Pedersen, Nancy L., Fratiglioni, Laura, Johansson, Boo, Karlsson, David, Winblad, Bengt, Gatz, Margaret

“…Twin studies are an incomparable source of investigation to shed light on genetic and non‐genetic components of neurodegenerative diseases, as Alzheimer's…”
Get full text

Redox proteins in the defense against dopamine induced cell death by Arodin, L., Nennesmo, I., Björnstedt, M., Fernandes⁎, A.P.

Get full text

Central nervous system involvement in severe congenital neutropenia: neurological and neuropsychological abnormalities associated with specific HAX1 mutations by Carlsson, G., Van’t Hooft, I., Melin, M., Entesarian, M., Laurencikas, E., Nennesmo, I., Trębińska, A., Grzybowska, E., Palmblad, J., Dahl, N., Nordenskjöld, M., Fadeel, B., Henter, J‐I

“… Objectives.  Homozygous mutations in the HAX1 gene were recently identified in severe congenital neutropenia patients belonging to the original Kostmann…”
Get full text

Cholesterol Homeostasis in Human Brain: Evidence for an Age-Dependent Flux of 24S-Hydroxycholesterol from the Brain into the Circulation by Lütjohann, Dieter, Breuer, Olof, Ahlborg, Gunvor, Nennesmo, Inger, Sidén, Åke, Diczfalusy, Ulf, Björkhem, Ingemar

“…We have investigated whether side chainhydroxylated cholesterol species are important for elimination of cholesterol from the brain. Plasma concentrations of…”
Get full text

A novel NGFB point mutation: a phenotype study of heterozygous patients by Minde, J, Andersson, T, Fulford, M, Aguirre, M, Nennesmo, I, Remahl, I Nilsson, Svensson, O, Holmberg, M, Toolanen, G, Solders, G

“…Objective:A family with neurological findings similar to hereditary sensory and autonomic neuropathy type V having a point mutation in the nerve growth factor…”
Get full text

Limited effects of high-dose intravenous immunoglobulin (IVIG) treatment on molecular expression in muscle tissue of patients with inflammatory myopathies by Helmers, Sevim Barbasso, Dastmalchi, Maryam, Alexanderson, Helene, Nennesmo, Inger, Esbjörnsson, Mona, Lindvall, Björn, Lundberg, Ingrid E

“…Objectives:The study was conducted with the aim of achieving an improved understanding of the molecular mechanisms of high-dose intravenous immunoglobulin…”
Get full text

Percutaneous conchotome muscle biopsy. A useful diagnostic and assessment tool by DORPH, Christina, NENNESMO, Inger, LUNDBERG, Ingrid E

“…OBJECTIVE: To evaluate the diagnostic yield, performance simplicity, and safety of the percutaneous conchotome muscle biopsy technique for clinical and…”
Get full text

Neuropathologic findings and neurologic symptoms in twenty-three children with hemophagocytic lymphohistiocytosis by Henter, Jan-Inge, Nennesmo, Inger

“…Background: Primary hemophagocytic lymphohistiocytosis (HLH) is an autosomal recessive disorder with very high mortality rates, mainly affecting infants and…”
Get full text

Suppression of experimental autoimmune neuritis by ABR-215062 is associated with altered Th1/Th2 balance and inhibited migration of inflammatory cells into the peripheral nerve tissue by Zou, L.-P., Abbas, N., Volkmann, I., Nennesmo, I., Levi, M., Wahren, B., Winblad, B., Hedlund, G., Zhu, J.

“…The therapeutic effects of ABR-215062, which is a new immunoregulator derived from Linomide, have been evaluated in experimental autoimmune neuritis (EAN), a…”
Get full text

Dendritic cells in the cerebrospinal fluid and peripheral nerves in Guillain-Barré syndrome and chronic inflammatory demyelinating polyradiculoneuropathy by Press, R., Nennesmo, I., Kouwenhoven, M., Huang, Y.-M., Link, H., Pashenkov, M.

“…The role of antigen-presenting cells (APC) involved in induction of T and B cell mediated autoaggressive immunity in Guillain-Barré syndrome (GBS) and chronic…”
Get full text

Impairment of short-term memory and Korsakoff syndrome are common in AIDS patients with cytomegalovirus encephalitis by Pirskanen-Matell, R., Grützmeier, S., Nennesmo, I., Sandström, E., Ehrnst, A.

“…Background and purpose  The diagnosis of cytomegalovirus encephalitis (CMV‐E) in AIDS patients is challenging as other illnesses may obscure the symptoms…”
Get full text

Higher proportion of fast-twitch (type II) muscle fibres in idiopathic inflammatory myopathies - evident in chronic but not in untreated newly diagnosed patients by Loell, I., Helmers, S. B., Dastmalchi, M., Alexanderson, H., Munters, L. A., Nennesmo, I., Lindroos, E., Borg, K., Lundberg, I. E., Esbjörnsson, M.

“…Summary Objective:  Polymyositis and dermatomyositis are idiopathic, inflammatory myopathies characterized by proximal muscle fatigue. Conventional…”
Get full text

Severe phenotype of a patient with autosomal recessive centronuclear myopathy due to a BIN1 mutation by Mejaddam, A Y, Nennesmo, I, Sejersen, T

“…Centronuclear myopathy (CNM) is a rare hereditary congenital myopathy characterized by muscular hypotonia and abnormal centralization of nuclei in muscle…”
Get full text

MRI guided muscle biopsy confirmed polymyositis diagnosis in a patient with interstitial lung disease by Lampa, J, Nennesmo, I, Einarsdottir, H, Lundberg, I

“…Idiopathic inflammatory myopathies, such as polymyositis (PM), may present with general symptoms such as fever and fatigue and only minimal muscle weakness,…”
Get full text