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1. Full Text Clinical and immunological characteristics of the spectrum of GFAP autoimmunity: A case series of 22 patients
by Iorio, Raffaele and Damato, Valentina and Evoli, Amelia and Gessi, Marco and Gaudino, Simona and Di Lazzaro, Vincenzo and Spagni, Gregorio and Sluijs, Jacqueline A and Hol, Elly M
Journal of Neurology, Neurosurgery and Psychiatry, ISSN 0022-3050, 02/2018, Volume 89, Issue 2, pp. 138 - 146
Objective To report the clinical and immunological characteristics of 22 new patients with glial fibrillar acidic protein (GFAP) autoantibodies. Methods From... 
autoimmune encephalitis | autoimmune neurology | meningoencephalitis | astrocytes | autoantibodies | AUTOANTIBODIES | SURGERY | DENDRITIC CELLS | PSYCHIATRY | ALZHEIMERS-DISEASE | MACROPHAGES | ASTROCYTES | CLINICAL NEUROLOGY | FIBRILLARY ACIDIC PROTEIN | ENCEPHALITIS | CENTRAL-NERVOUS-SYSTEM | CHOROID-PLEXUS | CORTICOSTEROIDS | Meningoencephalitis - physiopathology | Glial Fibrillary Acidic Protein - genetics | Brain - diagnostic imaging | Humans | Middle Aged | Movement Disorders - immunology | Male | Plasma Exchange | Ovarian Neoplasms - complications | Cerebellar Ataxia - immunology | Meningoencephalitis - immunology | Young Adult | Autoimmune Diseases of the Nervous System - physiopathology | Carcinoma - complications | Myelitis - immunology | Immunotherapy | Encephalomyelitis - therapy | Aged, 80 and over | Child | Myoclonus - immunology | Myelitis - physiopathology | Spinal Cord - diagnostic imaging | Autoimmune Diseases of the Nervous System - complications | Mice, Knockout | Myelitis - complications | Magnetic Resonance Imaging | Meningoencephalitis - complications | Cerebellar Ataxia - complications | Cerebellar Ataxia - therapy | Movement Disorders - physiopathology | Drug Resistant Epilepsy - immunology | Immunoglobulins, Intravenous - therapeutic use | Protein Isoforms | Adolescent | Drug Resistant Epilepsy - therapy | Mice | Myoclonus - therapy | Glucocorticoids - therapeutic use | Glial Fibrillary Acidic Protein - immunology | Cerebellar Ataxia - physiopathology | Myoclonus - complications | Encephalomyelitis - complications | Encephalomyelitis - physiopathology | Adult | Female | Optic Neuritis - immunology | Optic Neuritis - complications | Optic Neuritis - therapy | Myoclonus - physiopathology | Movement Disorders - complications | Thymus Neoplasms - complications | Autoimmune Diseases of the Nervous System - immunology | Breast Neoplasms - complications | Autoantibodies - immunology | Drug Resistant Epilepsy - complications | Animals | Movement Disorders - therapy | Optic Neuritis - physiopathology | Encephalomyelitis - immunology | Meningoencephalitis - therapy | Aged | Autoimmune Diseases of the Nervous System - therapy | Myelitis - therapy | Thymoma - complications | Drug Resistant Epilepsy - physiopathology | Immunologic Factors - therapeutic use | Autoimmunity | Usage | Care and treatment | Autoantibodies | Autoimmune diseases | Analysis | Encephalitis | Brain | Antigens | Multiple sclerosis | Immunoglobulins | Spinal cord | Dendritic cells | Disease | Epilepsy | Aquaporins | Cognitive ability | Nervous system | Drug resistance | Patients | Proteins | Immunology | Microscopy | Rheumatoid arthritis | Rodents | Ataxia | Animal cognition | Index Medicus
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2. Full Text Comparison of Grading Scales Regarding Perioperative Complications and Clinical Outcomes of Brain Arteriovenous Malformations After Endovascular Therapy—Multicenter Study
by Jin, Hengwei and Jiang, Yuhua and Ge, Huijian and Luo, Jing and Li, Conghui and Li, Youxiang and Wu, Hongxing
World Neurosurgery, ISSN 1878-8750, 10/2017, Volume 106, pp. 394 - 401
Several scales have been proposed for risk assessment and outcome determination in brain arteriovenous malformations treated by endovascular therapy. We aim to... 
Brain arteriovenous malformations | Endovascular therapy | Grading scales | SYSTEM | SURGERY | MANAGEMENT | EMBOLIZATION | AVMS | RISK | CLINICAL NEUROLOGY | Postoperative Complications - etiology | Humans | Middle Aged | Ataxia - etiology | Child, Preschool | Male | Intracranial Arteriovenous Malformations - surgery | Paresthesia - etiology | Embolization, Therapeutic - adverse effects | Young Adult | Arteriovenous Fistula - surgery | Adult | Female | Retrospective Studies | Paresis - etiology | Child | Embolization, Therapeutic - methods | Severity of Illness Index | Endovascular Procedures - adverse effects | Intracranial Hemorrhages - etiology | Treatment Outcome | Brain Ischemia - etiology | Intracranial Arteriovenous Malformations - pathology | Intracranial Aneurysm - etiology | Magnetic Resonance Imaging | Endovascular Procedures - methods | Pulmonary Embolism - etiology | Intraoperative Complications - etiology | Adolescent | Arteriovenous Fistula - pathology | Aged | Diplopia - etiology | Arteriovenous malformations | Complications and side effects | Brain | Comparative analysis | Patient outcomes | Medical research | Medicine, Experimental | Index Medicus
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3. Full Text PO-0191 Varicella Complications - Could We Do More?
by Komitova, R and Boev, I and Kazakova, Z and Bojilova, M and Bojkinova, O
Archives of Disease in Childhood, ISSN 0003-9888, 10/2014, Volume 99, Issue Suppl 2, pp. A308 - A308
Background and aimsThe purpose of this study was to retrospectively evaluate the severe chickenpox complications among immunocompetent children.MethodsDuring a... 
Cerebellum | Scarlet fever | Cerebellar ataxia | Chicken pox | Medical records | Vaccines | Dehydration | Acyclovir | Fever | Thrombocytopenic purpura | Infectious diseases | Antibiotics | Purpura | Varicella | Sepsis | Respiratory tract diseases | Ataxia | Children
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4. Neurological Complications Associated With Anti-Programmed Death 1 (PD-1) Antibodies
by Justin C Kao and Bing Liao and Svetomir N Markovic and Christopher J Klein and Elie Naddaf and Nathan P Staff and Teerin Liewluck and Julie E Hammack and Paola Sandroni and Heidi Finnes PharmD and Michelle L Mauermann
JAMA Neurology, ISSN 2168-6149, 10/2017, Volume 74, Issue 10, p. 1216
Importance Neurological complications are an increasingly recognized consequence of the use of anti-programmed death 1 (PD-1) antibodies in the treatment of... 
Corticoids | Cerebellum | Drugs | Headache | Therapy | Retinopathy | Intravenous administration | Parkinson's disease | PD-1 protein | Medical services | Neuropathy | Cancer therapies | Immunosuppressive agents | Metastases | Hepatitis | Demyelination | Ataxia | Neurological disorders | Movement disorders | Immunoglobulins | Corticosteroids | Neurodegenerative diseases | Complications | Cerebellar ataxia | Medical treatment | Pharmacology | Hypothyroidism | Patients | Side effects | Cohort analysis | Neurological complications | Monoclonal antibodies | Ophthalmoplegia | Colitis | Tumors | Cancer | Myopathy
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5. Full Text Nonrelaxing Pelvic Floor Dysfunction Is an Underestimated Complication of Ileal Pouch–Anal Anastomosis
by Quinn, Kevin P and Tse, Chung Sang and Lightner, Amy L and Pendegraft, Richard S and Enders, Felicity T and Raffals, Laura E
Clinical Gastroenterology and Hepatology, ISSN 1542-3565, 2017, Volume 15, Issue 8, pp. 1242 - 1247
Background & Aims Nonrelaxing pelvic floor dysfunction (N-RPFD), or dyssynergic defecation, is the paradoxical contraction and/or impaired relaxation of pelvic... 
Gastroenterology and Hepatology | Defecatory Disorder | Pouch Dysfunction | Inflammatory Bowel Disease | MANAGEMENT | ULCERATIVE-COLITIS | BIOFEEDBACK | THERAPY | RESTORATIVE PROCTOCOLECTOMY | FAMILIAL ADENOMATOUS POLYPOSIS | UPDATE | DYSSYNERGIC DEFECATION | GASTROENTEROLOGY & HEPATOLOGY | STASIS | Ataxia - therapy | Prevalence | Humans | Middle Aged | Biofeedback, Psychology | Male | Ataxia - epidemiology | Young Adult | Pelvic Floor Disorders - therapy | Adolescent | Adult | Female | Aged | Pelvic Floor Disorders - epidemiology | Retrospective Studies | Child | Proctocolectomy, Restorative - adverse effects | Medicine, Experimental | Medical research | Biofeedback training | Barium | Health aspects | Gastrointestinal diseases | Index Medicus
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6. Full Text High prevalence of microvascular complications in adults with type 1 diabetes and newly diagnosed celiac disease
by Leeds, John S and Hopper, Andrew D and Hadjivassiliou, Marios and Tesfaye, Solomon and Sanders, David S
Diabetes Care, ISSN 0149-5992, 10/2011, Volume 34, Issue 10, pp. 2158 - 2163
OBJECTIVE-The implications of celiac disease (CD) in adult patients with type 1 diabetes are unknown, with respect to diabetes-related outcomes including... 
POPULATION | NEUROPATHY | GLUTEN-SENSITIVE ENTEROPATHY | ENDOCRINOLOGY & METABOLISM | RISK | MELLITUS | ATAXIA | FREE DIET | Prevalence | Diabetic Nephropathies - etiology | Humans | Middle Aged | Male | Diabetes Mellitus, Type 1 - complications | Diabetic Nephropathies - blood | Diabetic Retinopathy - diet therapy | Case-Control Studies | Young Adult | Diabetic Retinopathy - blood | Diabetes Mellitus, Type 1 - blood | Adolescent | Celiac Disease - blood | Celiac Disease - complications | Adult | Female | Diabetes Mellitus, Type 1 - diet therapy | Diabetic Retinopathy - etiology | Blood Glucose - metabolism | Diabetic Nephropathies - diet therapy | Celiac Disease - diet therapy | Diet, Gluten-Free | Celiac disease | Medical research | Diabetics | Medicine, Experimental | Development and progression | Lipids | Adults | Diabetes | Research | Cholesterol | Prevalence studies (Epidemiology) | Diabetes therapy | Studies | Bone density | Diet | Index Medicus | Original Research
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7. Full Text Don't forget how severe varicella can be-complications of varicella in children in a defined Polish population
by Gowin, Ewelina and Wysocki, Jacek and Michalak, Michał
International Journal of Infectious Diseases, ISSN 1201-9712, 07/2013, Volume 17, Issue 7, pp. e485 - e489
Background: This study aimed to analyze the causes of hospitalization in children with varicella, based on a defined Polish population. Methods: This was a... 
Varicella | Ataxia | Pneumonia | Hospitalization | UNITED-STATES | IMMUNIZATION | INFECTIOUS DISEASES | INFECTIONS | VACCINATION | HOSPITALIZATIONS | BURDEN | Severity of Illness Index | International Classification of Diseases | Age Factors | Humans | Vaccination | Child, Preschool | Hospitalization - statistics & numerical data | Chickenpox - epidemiology | Infant | Skin Diseases, Infectious - epidemiology | Herpesvirus 3, Human - isolation & purification | Chickenpox - prevention & control | Chickenpox Vaccine - administration & dosage | Poland - epidemiology | Respiratory Tract Diseases - etiology | Skin Diseases, Infectious - prevention & control | Respiratory Tract Diseases - epidemiology | Adolescent | Skin Diseases, Infectious - etiology | Retrospective Studies | Chickenpox - complications | Child | Infant, Newborn | Respiratory Tract Diseases - prevention & control | Complications and side effects | Children | Analysis | Chickenpox | Index Medicus
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8. Full Text Immunodeficiency and infections in ataxia-telangiectasia
by Nowak-Wegrzyn, Anna and Crawford, Thomas O and Winkelstein, Jerry A and Carson, Kathryn A and Lederman, Howard M
The Journal of Pediatrics, ISSN 0022-3476, 2004, Volume 144, Issue 4, pp. 505 - 511
Objective: To characterize the immunodeficiency in ataxia-telangiectasia (A-T) and to determine whether the immunodeficiency is progressive and associated with... 
Ataxia-telangiectasia | A-T | IVIG | Immunoglobulin | AFP | Natural killer cells | Intravenous immune globulin | ATCC | Alpha-fetoprotein | Johns Hopkins Ataxia-Telangiectasia Clinical Center | TRANSFORMATION | GENE | ABNORMALITIES | PEDIATRICS | T-CELLS | DEFICIENCY | LYMPHOCYTES | Skin Diseases, Viral - complications | Ataxia Telangiectasia - mortality | Leukopenia - immunology | Age Factors | Humans | Child, Preschool | Infant | Male | Sepsis - complications | Ataxia Telangiectasia - immunology | Chickenpox - immunology | Esophagitis - microbiology | Immunoglobulins - blood | Adult | Ataxia Telangiectasia - drug therapy | Female | Respiratory Tract Infections - complications | Chickenpox - complications | Ataxia Telangiectasia - complications | Child | Herpes Zoster - immunology | Sepsis - immunology | Herpes Zoster - complications | Immunoglobulins - deficiency | Skin Diseases, Viral - immunology | Esophagitis - complications | Esophagitis - immunology | Immunoglobulins, Intravenous - therapeutic use | Otitis Media - immunology | Adolescent | Respiratory Tract Infections - immunology | Lymphocyte Count | Otitis Media - complications | Lymphopenia - immunology | Killer Cells, Natural - metabolism | Index Medicus | Abridged Index Medicus
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9. Full Text Familial vitamin E deficiency: Multiorgan complications support the adverse role of oxidative stress
by Trotta, Elisa and Bortolotti, Stefano and Fugazzotto, Gabriella and Gellera, Cinzia and Montagnese, Sara and Amodio, Piero
Nutrition, ISSN 0899-9007, 07/2019, Volume 63-64, pp. 57 - 60
Vitamin E is an essential micronutrient with relevant antioxidant and anti-inflammatory properties found in plant leaves, seeds, and products derived from... 
Oxidative stress | AVED | Ataxia with vitamin E deficiency | Cardiovascular risk factors | Vitamin E deficiency | α-tocopherol | TOCOPHEROL TRANSFER PROTEIN | NUTRITION & DIETETICS | GENE | MICE DEFICIENT | alpha-tocopherol | ATAXIA | MUTATIONS | Complications and side effects | Blood circulation disorders | Analysis | Liver | Medical genetics | Tocopherols | Development and progression | Genetic aspects | Heart diseases | Risk factors | Seeds | Heart attacks | Angioplasty | Pathogenesis | Cardiovascular disease | Metabolic syndrome | Peripheral neuropathy | Proteins | Antioxidants | Leaves | Ultrasonic imaging | Vascular diseases | Fatty liver | Ischemia | Child development | Metabolites | Vitamin E | Colonoscopy | Atherosclerosis | Ataxia | Age | Siblings | Hypertension | Signs and symptoms | Liver diseases | Nutrient deficiency | Antiinflammatory agents | Complications | Inflammation | Risk analysis | Gene expression | Patients | Coronary artery disease | Cholesterol | Steatosis | Abdomen | Hypotheses | Lipoproteins | Arteriosclerosis | Diabetes | Mutation | Cardiovascular diseases | Tocopherol
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10. Full Text Leukoencephalopathy, cerebral calcifications and cysts: a family study
by Karlinger, Kinga and Tárnoki, Ádám Domonkos and Tárnoki, Dávid László and Polvi, Anne and Lehesjoki, Anna-Elina and Kelemen, Andrea and Szegedi, László and Turányi, Eszter and Kamondi, Anita and Szűcs, Anna
Journal of Neurology, ISSN 0340-5354, 10/2014, Volume 261, Issue 10, pp. 1911 - 1916
We present a clinical, neuro-radiological and genetic study on a family with members suffering from an autosomal dominantly inherited syndrome characterised by... 
Neurology | Neurosciences | Coats plus disease | Cerebral calcifications | Medicine & Public Health | CRMCC | Labrune syndrome | LCC | Neuroradiology | COMPLEX | TINF2 | CEREBRORETINAL MICROANGIOPATHY | CLINICAL NEUROLOGY | RETINOPATHY | COMPONENT | MUTATIONS | APLASTIC-ANEMIA | Calcinosis - genetics | Retinal Diseases - genetics | Calcinosis - diagnosis | Leukoencephalopathies - genetics | Calcinosis - complications | Seizures - genetics | Humans | Family Health | Male | Tomography, X-Ray Computed | Brain Neoplasms - complications | Seizures - complications | Telomere-Binding Proteins - genetics | Leukoencephalopathies - diagnosis | Central Nervous System Cysts - diagnosis | Female | Ophthalmology | Ataxia - genetics | Retinal Diseases - diagnosis | Retinal Diseases - complications | Brain Neoplasms - diagnosis | Brain Neoplasms - genetics | Seizures - diagnosis | Mutation - genetics | Ataxia - diagnosis | Central Nervous System Cysts - genetics | Magnetic Resonance Imaging | Muscle Spasticity - complications | Leukoencephalopathies - complications | Muscle Spasticity - diagnosis | Central Nervous System Cysts - complications | Ataxia - complications | Muscle Spasticity - genetics | Complications and side effects | Care and treatment | Epilepsy | Development and progression | Research | Leukoencephalopathy | Health aspects | Index Medicus
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11. Full Text Mutations in NKX6-2 Cause Progressive Spastic Ataxia and Hypomyelination
by Chelban, Viorica and Patel, Nisha and Vandrovcova, Jana and Zanetti, M. Natalia and Lynch, David S and Ryten, Mina and Botía, Juan A and Bello, Oscar and Tribollet, Eloise and Efthymiou, Stephanie and Davagnanam, Indran and Bashiri, Fahad A and Wood, Nicholas W and Rothman, James E and Alkuraya, Fowzan S and Houlden, Henry and SYNAPSE Study Group
The American Journal of Human Genetics, ISSN 0002-9297, 06/2017, Volume 100, Issue 6, pp. 969 - 977
Progressive limb spasticity and cerebellar ataxia are frequently found together in clinical practice and form a heterogeneous group of degenerative disorders... 
genetic | spasticity | leukodystrophy | NKX6-2 | ataxia | recessive | IDENTITY | HUMAN BRAIN | WHITE-MATTER | GENE | ABNORMALITIES | GENETICS & HEREDITY | REPRESSOR ACTIVITY | PSYCHIATRIC-DISORDERS | GTX | MOTOR-NEURON | HOMEODOMAIN PROTEIN | Brain - embryology | Humans | Amino Acid Transport Systems, Acidic - deficiency | Infant | Intellectual Disability - complications | Male | Psychomotor Disorders - complications | Gene Regulatory Networks | Intellectual Disability - genetics | Brain - metabolism | Young Adult | Mitochondrial Diseases - complications | Psychomotor Disorders - genetics | Antiporters - genetics | Adult | Female | Child | Hereditary Central Nervous System Demyelinating Diseases - genetics | Optic Atrophy - genetics | Spinocerebellar Ataxias - genetics | Antiporters - deficiency | Mitochondrial Diseases - genetics | Amino Acid Sequence | Spinocerebellar Ataxias - complications | Optic Atrophy - complications | Homeodomain Proteins - chemistry | Mutation - genetics | Homeodomain Proteins - genetics | Phenotype | Pedigree | Muscle Spasticity - complications | Amino Acid Transport Systems, Acidic - genetics | Hereditary Central Nervous System Demyelinating Diseases - complications | Muscle Spasticity - genetics | Causes of | Ataxia | Genetic aspects | Gene mutations | Health aspects | Index Medicus | Report
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12. Full Text Genetic and phenotypic diversity of NHE6 mutations in Christianson syndrome
by Pescosolido, Matthew F and Stein, David M and Schmidt, Michael and Achkar, Christelle Moufawad and Sabbagh, Mark and Rogg, Jeffrey M and Tantravahi, Umadevi and McLean, Rebecca L and Liu, Judy S and Poduri, Annapurna and Morrow, Eric M
Annals of Neurology, ISSN 0364-5134, 10/2014, Volume 76, Issue 4, pp. 581 - 593
Objective: Recently, Christianson syndrome (CS) has been determined to be caused by mutations in the X-linked Na+/H+ exchanger 6 (NHE6). We aimed to determine... 
ANGELMAN-LIKE SYNDROME | WIDE ASSOCIATION SCAN | LINKED MENTAL-RETARDATION | SODIUM/PROTON EXCHANGER | DEFICIT HYPERACTIVITY DISORDER | FAMILIES | EPILEPSY | NA+/H+ EXCHANGER | NATURAL-HISTORY | NEUROSCIENCES | CLINICAL NEUROLOGY | SLC9A6 GENE | Microcephaly - genetics | Humans | Child, Preschool | Genetic Diseases, X-Linked - complications | Intellectual Disability - complications | Male | Developmental Disabilities - genetics | Electroencephalography | Brain - growth & development | Epilepsy - etiology | Ocular Motility Disorders - genetics | Autistic Disorder - etiology | Intellectual Disability - genetics | Young Adult | Developmental Disabilities - pathology | Microcephaly - pathology | Epilepsy - genetics | Female | Genetic Diseases, X-Linked - genetics | Sodium-Hydrogen Exchangers - genetics | Ataxia - genetics | Child | Ataxia - pathology | Autistic Disorder - genetics | Microcephaly - complications | Ocular Motility Disorders - pathology | Intellectual Disability - pathology | Genotype | Mutation - genetics | Disease Progression | Epilepsy - complications | Magnetic Resonance Imaging | Regression Analysis | Phenotype | Adolescent | Brain - pathology | Genetic Diseases, X-Linked - pathology | Ataxia - complications | Ocular Motility Disorders - complications | Developmental Disabilities - complications | Epilepsy - pathology | Autism | Behavior | Mutation | Index Medicus
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13. Full Text Defining the phenotypic spectrum of SLC6A1 mutations
by Johannesen, Katrine M and Gardella, Elena and Linnankivi, Tarja and Courage, Carolina and Saint Martin, Anne and Lehesjoki, Anna‐Elina and Mignot, Cyril and Afenjar, Alexandra and Lesca, Gaetan and Abi‐Warde, Marie‐Thérèse and Chelly, Jamel and Piton, Amélie and Merritt, J. Lawrence and Rodan, Lance H and Tan, Wen‐Hann and Bird, Lynne M and Nespeca, Mark and Gleeson, Joseph G and Yoo, Yongjin and Choi, Murim and Chae, Jong‐Hee and Czapansky‐Beilman, Desiree and Reichert, Sara Chadwick and Pendziwiat, Manuela and Verhoeven, Judith S and Schelhaas, Helenius J and Devinsky, Orrin and Christensen, Jakob and Specchio, Nicola and Trivisano, Marina and Weber, Yvonne G and Nava, Caroline and Keren, Boris and Doummar, Diane and Schaefer, Elise and Hopkins, Sarah and Dubbs, Holly and Shaw, Jessica E and Pisani, Laura and Myers, Candace T and Tang, Sha and Tang, Shan and Pal, Deb K and Millichap, John J and Carvill, Gemma L and Helbig, Kathrine L and Mecarelli, Oriano and Striano, Pasquale and Helbig, Ingo and Rubboli, Guido and Mefford, Heather C and Møller, Rikke S
Epilepsia, ISSN 0013-9580, 02/2018, Volume 59, Issue 2, pp. 389 - 402
ObjectivePathogenic SLC6A1 variants were recently described in patients with myoclonic atonic epilepsy (MAE) and intellectual disability (ID). We set out to... 
epilepsy | MAE | epilepsy genetics | SLC | 6A1 | SLC6A1 | MYOCLONIC-ASTATIC EPILEPSY | ATTENTION | GABA TRANSPORTERS | ILAE COMMISSION | CLASSIFICATION | TERMINOLOGY | CLINICAL NEUROLOGY | CHILDHOOD ABSENCE EPILEPSY | INTELLECTUAL DISABILITY | SEIZURES | POSITION PAPER | Epilepsy, Generalized - genetics | Epilepsies, Partial - drug therapy | Humans | Child, Preschool | Intellectual Disability - complications | Male | Electroencephalography | Neurodevelopmental Disorders - genetics | Epilepsy, Generalized - complications | Mutation, Missense | Epilepsies, Partial - physiopathology | Intellectual Disability - genetics | Young Adult | Adult | Female | Valproic Acid - therapeutic use | Language Development Disorders - physiopathology | Ataxia - genetics | Child | Epilepsies, Myoclonic - genetics | Epilepsies, Partial - complications | Ataxia - physiopathology | Genetic Association Studies | Language Development Disorders - genetics | Neurodevelopmental Disorders - complications | Anticonvulsants - therapeutic use | Epilepsies, Myoclonic - physiopathology | Treatment Outcome | Epilepsies, Myoclonic - complications | Language Development Disorders - complications | Intellectual Disability - physiopathology | GABA Plasma Membrane Transport Proteins - genetics | Phenotype | Epilepsy, Generalized - physiopathology | Epilepsy, Generalized - drug therapy | Adolescent | Ataxia - complications | Epilepsies, Myoclonic - drug therapy | Epilepsies, Partial - genetics | Mutation | Cohort Studies | Medical research | Divalproex | Epilepsy | Medicine, Experimental | Genetic aspects | Seizures (Medicine) | Valproic acid | Phenotypes | Convulsions & seizures | Sleep | Language | EEG | Cognitive ability | Speech | Ataxia | Seizures | Index Medicus | Life Sciences | Genetics | Human genetics
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14. Full Text Absence of the Autophagy Adaptor SQSTM1/p62 Causes Childhood-Onset Neurodegeneration with Ataxia, Dystonia, and Gaze Palsy
by Haack, Tobias B and Ignatius, Erika and Calvo-Garrido, Javier and Iuso, Arcangela and Isohanni, Pirjo and Maffezzini, Camilla and Lönnqvist, Tuula and Suomalainen, Anu and Gorza, Matteo and Kremer, Laura S and Graf, Elisabeth and Hartig, Monika and Berutti, Riccardo and Paucar, Martin and Svenningsson, Per and Stranneheim, Henrik and Brandberg, Göran and Wedell, Anna and Kurian, Manju A and Hayflick, Susan A and Venco, Paola and Tiranti, Valeria and Strom, Tim M and Dichgans, Martin and Horvath, Rita and Holinski-Feder, Elke and Freyer, Christoph and Meitinger, Thomas and Prokisch, Holger and Senderek, Jan and Wredenberg, Anna and Carroll, Christopher J and Klopstock, Thomas
The American Journal of Human Genetics, ISSN 0002-9297, 09/2016, Volume 99, Issue 3, pp. 735 - 743
(sequestosome 1; also known as ) encodes a multidomain scaffolding protein involved in various key cellular processes, including the removal of damaged... 
Dystonia - complications | Humans | RNA, Messenger - analysis | Male | Dystonia - genetics | Supranuclear Palsy, Progressive - complications | Young Adult | Adult | Female | Autophagy - genetics | Dysarthria - complications | Ataxia - genetics | Child | Supranuclear Palsy, Progressive - genetics | Fibroblasts - metabolism | Neurodegenerative Diseases - genetics | Cognition Disorders - genetics | Mitochondria - metabolism | Sequestosome-1 Protein - deficiency | Autophagosomes - metabolism | Mitochondria - pathology | Neurodegenerative Diseases - complications | Autophagosomes - pathology | Movement Disorders - complications | Sequestosome-1 Protein - genetics | Phenotype | Neurodegenerative Diseases - physiopathology | Pedigree | Adolescent | Age of Onset | Ataxia - complications | Movement Disorders - genetics | Dysarthria - genetics | Gait - genetics | Proteins | Genotype & phenotype | Amyotrophic lateral sclerosis | Mitochondria | Autophagy | Dementia | Index Medicus | Report
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