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EMBO Molecular Medicine, ISSN 1757-4676, 11/2014, Volume 6, Issue 11, pp. 1455 - 1475
Journal Article
by Yu S and Manson J and White S and Bourne A and Waddy H and Davis M and Haan E
Clinical Genetics, ISSN 0009-9163, 08/2003, Volume 64, Issue 2, pp. 148 - 152
Journal Article
Human Mutation, ISSN 1059-7794, 10/1999, Volume 14, Issue 4, pp. 320 - 325
X‐linked myotubular myopathy (XLMTM) is a congenital muscular disease characterized by severe hypotonia and generalized muscle weakness, leading in most cases... 
myotubularin | myotubular myopathy | mild | X‐linked | XLMTM | phosphatase | MTM1 | Myotubular myopathy, X-linked, mild | Phosphatase | Myotubularin
Journal Article
Journal of Pediatrics, The, ISSN 0022-3476, 2016, Volume 175, pp. 130 - 136.e8
Journal Article
Acta Orthopaedica, ISSN 1745-3674, 12/2009, Volume 80, Issue 6, pp. 711 - 715
Background Multiple epiphyseal dysplasia (MED) is a common genetically and clinically heterogeneous skeletal dysplasia characterized by early-onset... 
CHAIN | COMP | EDM2 | DTDST MUTATION | PHENOTYPE | ORTHOPEDICS | COLLAGEN-IX | MILD MYOPATHY | COL9A2 GENE | Medical and Health Sciences | MEDICINE | Medicin och hälsovetenskap | MEDICIN
Journal Article
Journal Article
Journal Article
European Journal of Neurology, ISSN 1351-5101, 11/2003, Volume 10, Issue 6, pp. 763 - 765
Parkinson's disease | viral meningitis | psychiatry | galantamine | acetylcholine receptor antibodies | paradoxical activity | 18F‐FDG‐PET | intracerebral haemorrhage | video electroencephalographic monitoring | outcomes | camptocormia | paired transcranial magnetic stimulation | prostaglandin E | sensory perineuritis | non‐epileptic seizures | thymoma | Alzheimer's disease | prevention | atherosclerosis | pituitary | trauma | motor neuron disease | cerebrovascular disease | familial Parkinson's disease | migraine without aura | bradykinin | sympathetic dysfunction | freezing of gait | bitemporal epilepsy | stereotactic | dementia | dysarthria‐clumsy hand | central conduction | histamine | care of | vascular dementia | titin antibodies | uncertainty | cognitive rehabilitation | interferon‐alpha | transcranial Doppler | polyglandular autoimmune disorders | autoimmune thyroiditis | health resource allocation | demyelinating neuropathy | point mutation | mind | warning clinical criteria | migraine | cerebral venous thrombosis | vigabatrin | jaw opening | HAM/TSP | protein S‐100B | botulinum toxin type A | Hospital Anxiety and Depression Scale | amnesia | Charcot–Marie–Tooth neuropathy type 1B | familial hemiplegic migraine | 5‐hydroxytryptamine | unilateral neglect | clinical scores | malignancy | arterio‐arterial embolism | lacunar infarction | language | peripheral nervous system | myokymia | event‐related potentials | atrial fibrillation | antibodies | rubella | neuropathology | dopamine receptor agonists | mild head injury | presence of plaque | intracortical facilitation | carotid arteries | study design | presenilin‐1 mutation | subacute rhombencephalitis | optic neuritis | anxiety | re‐certification | cerebrospinal fluid | Italy | arterial occlusion | electrophysiological study | white matter diseases | peripheral nerve disorders | structural brain lesions | cognitive disorders | semen | cadaveric dura mater graft | neurocognitive disorders | southern Taiwan | spectroscopy | HLA genes | human | health care | hemangiosarcoma | cerebral arteries | interferon beta | QALYs | refractory epilepsy | transitory ischemic attacks | tuition | stroke | striato‐capsular region | neuro‐Behcet disease | cerebellar damage | respiratory failure | cost‐effectiveness analysis | movement disorders | positron emission tomography | apraxia | hypertension | Rathke's cyst | coronary artery disease | education | occupational disease | focus | hepatic form | intractable epilepsy | micrographia | transcranial magnetic stimulation | chemotherapy | encephalopathy | multivariate analysis | rehabilitation | axonal polyneuropathy | demyelination | electrophysiological tests | acute disseminate encephalomyelitis | botulinum toxin | suramin | praxis | carpal tunnel release | amyloid | Tau protein | primary progressive multiple sclerosis | specialization | anterior communicating artery | caudate nucleus | eosinophilic myositis | mixed dementia | volumetry | CNS | protein S | laparotomy | prevalence | acute stroke | inflammation | monoclonal gammopathy | ryanodine receptor antibodies | carotid stenosis | giant aneurysm | protein C | alpha B‐crystallin | outcome | cyclosporine | obstructive sleep apnea | PK11195 | endarterectomy | focal myopathy | spinothalamic tract | neuroscience funding | systematic review | varicella | comorbidity | meralgia paresthetica | circle of Willis | post‐polio syndrome | epilepsy | residency | lewy body disease | Bickerstaff's brainstem encephalitis GQ1b and GM1 antibodies | Brueghel's syndrome | Chlamydia pneumoniae | hereditary PD | ultrasonography | ictal dystonia | intracortical inhibition | intracranial lesion | interleukin‐5 | adult onset myopathy | mononuclear cells | hypothyroid | carotid artery diseases | Creutzfeldt–Jakob disease | health economy | Europe | relapsing–remitting multiple sclerosis | fronto‐subcortical circuits | peroneal nerve palsy | middle cerebral artery | valproate | brain diseases | functional independence measure | survey | magnetic resonance imaging | basal ganglia | intrathecal fraction | trigemino‐cervical reflex | anticoagulation | progression | cutaneous stimulation | peripheral neuropathy | olanzapine | lifestyle‐associated risk factors | levodopa | smoking | oxaliplatin | tibial nerve stimulation | cisplatin | oligoclonal antibody | motor polyneuropathy | stimulation | cavum septi pellucidi | cerebral vasculitis | ageing | motor cortex | intravenous immunoglobulin (IVIG) | somatosensory‐evoked potential | traffic accidents | meta‐analysis | interferon | anti‐glutamic acid decarboxylase antibodies | hyponatremia | post‐infectious | teaching of neurology | economic evaluation | neurosurgery | aseptic meningitis | electrophysiological disorders | cognitive processing | hemicrania | jaw‐opening dystonia | Mycoplasma pneumoniae | paradoxical cerebral embolism | human experimental model | transient epileptic amnesia | intrathecal humoral immune response | muscular dystrophy | right‐to‐left shunt | intracranial aneurysm | writer's cramp | executive functions | brain mapping | aphasia | cost of secondary prevention of stroke | parkin | steroid‐responsive encephalopathy | inhibitory control | aneurysm surgery | cranial computed tomography | CVA | specialist registry | regulatory T cells | subcortical | pathogenesis | cerebral infarction | Lhermitte's sign | intrathecal antibody production | locked‐in state | cost of stroke | vagal nerve stimulation | Topiramate | seizure | SCA3 | hepatitis C | SCA2 | intima‐media thickness | myasthenia gravis | α‐synuclein | 1a | 1b | trigeminal system | multiple risk factors | muscle computed tomography | expectations | posterior circulation | atropine | ischemic stroke | Lyme Neuroborreliosis | paroxysmal gait disturbances | complications | vertebral artery | chronic diseases | invasive EEG | multiple sclerosis | comorbility | hypophonia | migraine with typical aura | prognosis | status epilepticus | prednisolone | disease susceptibility | dystonia | acetazolamide | atrophy | cardiac surgery | myasthenia gravis severity | progress | CD25 | gammopathy | monoclonal gammopathy of unknown significance | familial PD | magnetoencephalography | hypertensive encephalopathy | experimental headache | frontal‐subcortical circuit | transcranial | duplex | bradykinesia | amyotrophic lateral sclerosis | intoxication | continua | functional improvement | neuroscience curriculum | T. b. gambiense | syndrome of inappropriate antidiuretic hormone | myelin protein zero | cardiopathy | lateral femoral cutaneous nerve | familial Mediterranean fever | α‐synuclein Parkinson's disease | dorsal column | temporal lobe epilepsy | single photon emission computed tomography | plasticity | cerebral hemodynamic studies | hemiplegia | seizure worsening | IL‐10 | neuroborreliosis | autonomic dysfunction | brain stem | cross sign | GABA | yawning | CD45 | Doppler | choreoathetosis | memory | IgG | etiological subtypes | IgM | stereotyped and disinhibited behavior | thigh muscle weakness | T‐cell lines | organomegaly | epidemiology | thrombosis | CXCR3 | hepatitis C virus | masticatory muscles | immunoglobulin therapy | thalamus | lumbar puncture | pain | hippocampal sclerosis | relapse rate | associated movements | anomia | first‐ever stroke | intracerebral hemorrhage | family history | subarachnoid hemorrhage | cerebral palsy | M139V | stroke treatment | Tripterugium wilfordii multiglucoside | palatal tremor | tension‐type headache | specialty development | Miller Fisher syndrome | whiplash | binding | Guillain–Barré syndrome | IVIg | Streptococcus infection | lithium intoxication | healthcare systems | Devic's Disease | cerebrovascular accidents | population relative risk | children | anticoagulants | cardiopulmonary bypass | young‐onset parkinsonism | cerebral hemorrhage | glyceryl trinitrate | wheelchair‐dependency | clementia | risk perception | nitric oxide | risk factors | SUNCT | traumatic brain injury | coma | carbamazepine | central nervous system | long‐time consequences | internal carotid artery dissection | emotional motor system | musculoskeletal | autosomal recessive inheritance | DRB1 gene of HLA class II | secondary adrenal hypofunction | stroke outcome | stroke management | east–west differences | yes/no reversals | glatiramer acetate | clinical phenotype | indomethacin | acetylcholinesterase inhibitors | poliomyelitis | bilateral | human leucocyte antigen DR | financing | neutralizing | eosinophilic major basic protein | Sardinia | long‐term experience | focally folded myelin | CIDP | body weight loss | electromyography | organization | anomia for people's names | incidence | magnetic resonance angiography | antibody index | vasomotor reactivity | enterovirus | injuries | disability | pallidum | entacapone | expanded disability status scale | cervical problems | HTLV‐1 | putamen | magnetization transfer | brain imaging | plaques | ptosis | attentional disorders | acute aseptic meningitis | anterior thalamic peduncle | history | mental impairment | post‐concussion symptoms | gait | essential tremor | peripheral benzodiazepine receptor | human African trypanosomiasis | Hashimoto's encephalopathy | nerve conduction | blink reflex | intravenous immunoglobulins | Datura stramonium | carpal tunnel syndrome follow‐up | gender difference | grasp reflex | quadriceps weakness | paraventricular white matter | computed tomography scan | corticosteroids | oromandibular dystonia | quadriceps myopathy | microglia | Wilson's disease | neurology | drug therapy | cognition | sleep‐disordered breathing | therapy | polyneuropathy | Tr cells | lymphoproliferative | FIM | CD4 | Stroke Registry | thrombolysis | spasticity | depression | headache | cerebrovascular reactivity and reserve capacity | Verga's ventricle
Journal Article
NEUROMUSCULAR DISORDERS, ISSN 0960-8966, 07/1994, Volume 4, Issue 4, pp. 349 - 358
A multidisciplinary study was conducted in order to assess dystrophin expression in a large series of mild X-linked muscular dystrophy patients, with... 
MILD X-LINKED MUSCULAR DYSTROPHY | DILATED CARDIOMYOPATHY | PREVALENCE | MYOPATHY | NEUROSCIENCES | CLINICAL NEUROLOGY | MUSCLE-PROMOTER REGION | BECKER | GENE | DYSTROPHIN | IMMUNOBLOT | DUCHENNE | CLINICAL PHENOTYPE | DELETIONS | XP21 | GIRDLE | IMMUNOHISTOCHEMISTRY
Journal Article
Journal Article