Found: 97
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MELAS/SANDO overlap syndrome associated with POLG1 mutations.
- Published in:
- 2012
- By:
- Publication type:
- Letter
Increased Blood Flow Velocity in Middle Cerebral Artery and Headache Upon Ingestion of Ice Water.
- Published in:
- Frontiers in Neurology, 2019, p. N.PAG, doi. 10.3389/fneur.2019.00677
- By:
- Publication type:
- Article
Orthognathic surgery in a case of infantile facioscapulohumeral muscular dystrophy with macroglossia.
- Published in:
- Oral & Maxillofacial Surgery, 2008, v. 12, n. 4, p. 195, doi. 10.1007/s10006-008-0116-6
- By:
- Publication type:
- Article
Alterations in the hypothalamic melanocortin pathway in amyotrophic lateral sclerosis.
- Published in:
- 2016
- By:
- Publication type:
- journal article
Testicular dysfunction in adrenomyeloneuropathy.
- Published in:
- European Journal of Endocrinology, 1997, v. 137, n. 1, p. 34, doi. 10.1530/eje.0.1370034
- By:
- Publication type:
- Article
Cardiolipin Stabilizes and Increases Catalytic Efficiency of Carnitine Palmitoyltransferase II and Its Variants S113L, P50H, and Y479F.
- Published in:
- International Journal of Molecular Sciences, 2021, v. 22, n. 9, p. 4831, doi. 10.3390/ijms22094831
- By:
- Publication type:
- Article
Cellular Stress in the Pathogenesis of Muscular Disorders—From Cause to Consequence.
- Published in:
- International Journal of Molecular Sciences, 2020, v. 21, n. 16, p. 5830, doi. 10.3390/ijms21165830
- By:
- Publication type:
- Article
Normal FGF-21-Serum Levels in Patients with Carnitine Palmitoyltransferase II (CPT II) Deficiency.
- Published in:
- International Journal of Molecular Sciences, 2019, v. 20, n. 6, p. 1400, doi. 10.3390/ijms20061400
- By:
- Publication type:
- Article
Muscle Carnitine Palmitoyltransferase II Deficiency: A Review of Enzymatic Controversy and Clinical Features.
- Published in:
- International Journal of Molecular Sciences, 2017, v. 18, n. 1, p. 82, doi. 10.3390/ijms18010082
- By:
- Publication type:
- Article
Mitochondria and Energetic Depression in Cell Pathophysiology.
- Published in:
- International Journal of Molecular Sciences, 2009, v. 10, n. 5, p. 2252, doi. 10.3390/ijms10052252
- By:
- Publication type:
- Article
Investigations of the Enzymes Involved in the Fructose Breakdown in the Cattle Lens.
- Published in:
- Ophthalmic Research, 1982, v. 14, n. 3, p. 221, doi. 10.1159/000265196
- By:
- Publication type:
- Article
Normal Thermostability of p.Ser113Leu and p.Arg631Cys Variants of Mitochondrial Carnitine Palmitoyltransferase II (CPT II) in Human Muscle Homogenate.
- Published in:
- Metabolites (2218-1989), 2022, v. 12, n. 11, p. 1141, doi. 10.3390/metabo12111141
- By:
- Publication type:
- Article
Palmitate but Not Oleate Exerts a Negative Effect on Oxygen Utilization in Myoblasts of Patients with the m.3243A>G Mutation: A Pilot Study.
- Published in:
- Life (2075-1729), 2020, v. 10, n. 9, p. 204, doi. 10.3390/life10090204
- By:
- Publication type:
- Article
Prevalence and characteristics of headache attributed to ingestion or inhalation of a cold stimulus (HICS): A cross-sectional study.
- Published in:
- 2020
- By:
- Publication type:
- journal article
"Thoracic migraine" as a new manifestation of migraine: Case report.
- Published in:
- 2018
- By:
- Publication type:
- journal article
Experimental provocation of ‘ice-cream headache’ by ice cubes and ice water.
- Published in:
- Cephalalgia, 2017, v. 37, n. 5, p. 464, doi. 10.1177/0333102416650704
- By:
- Publication type:
- Article
Experimental provocation of 'ice-cream headache' by ice cubes and ice water.
- Published in:
- 2017
- By:
- Publication type:
- journal article
Absence of Known Familial Hemiplegic Migraine (FHM) Mutations in the CACNA1A Gene in Patients with common Migraine: Implications for Genetic Testing.
- Published in:
- Clinical Chemistry & Laboratory Medicine, 2003, v. 41, n. 3, p. 272, doi. 10.1515/CCLM.2003.042
- By:
- Publication type:
- Article
Personality factors in patients with myasthenia gravis: A prospective study.
- Published in:
- Brain & Behavior, 2023, v. 13, n. 11, p. 1, doi. 10.1002/brb3.3228
- By:
- Publication type:
- Article
'Patients with amyotrophic lateral sclerosis ( ALS) are usually nice persons'-How physicians experienced in ALS see the personality characteristics of their patients.
- Published in:
- Brain & Behavior, 2017, v. 7, n. 1, p. n/a, doi. 10.1002/brb3.599
- By:
- Publication type:
- Article
Sialylation and Muscle Performance: Sialic Acid Is a Marker of Muscle Ageing.
- Published in:
- PLoS ONE, 2013, v. 8, n. 12, p. 1, doi. 10.1371/journal.pone.0080520
- By:
- Publication type:
- Article
A Randomized, Double Blind, Placebo-Controlled Trial of Pioglitazone in Combination with Riluzole in Amyotrophic Lateral Sclerosis.
- Published in:
- PLoS ONE, 2012, v. 7, n. 6, p. 1, doi. 10.1371/journal.pone.0037885
- By:
- Publication type:
- Article
Decreased outlet angle of the superior cerebellar artery as indicator for dolichoectasia in late onset Pompe disease.
- Published in:
- 2018
- By:
- Publication type:
- journal article
Successful use of an immune checkpoint inhibitor in a patient with myasthenia gravis in remission.
- Published in:
- 2019
- By:
- Publication type:
- Case Study
Cognitive fatigue in patients with myasthenia gravis.
- Published in:
- 2017
- By:
- Publication type:
- journal article
Assessment of physical fatigability and fatigue perception in myasthenia gravis.
- Published in:
- 2017
- By:
- Publication type:
- journal article
Histological characterization and biochemical analysis of paraspinal muscles in neuromuscularly healthy subjects.
- Published in:
- Muscle & Nerve, 2015, v. 52, n. 1, p. 45, doi. 10.1002/mus.24490
- By:
- Publication type:
- Article
Electrical human motor nerve stimulation by Johann Christian Reil in 1792.
- Published in:
- Muscle & Nerve, 2014, v. 49, n. 6, p. 931, doi. 10.1002/mus.24200
- By:
- Publication type:
- Article
Diagnostic impact of myotonic discharges in myofibrillar myopathies.
- Published in:
- Muscle & Nerve, 2013, v. 47, n. 6, p. 845, doi. 10.1002/mus.23716
- By:
- Publication type:
- Article
Two novel mutations in the myophosphorylase gene in a patient with McArdle disease.
- Published in:
- Muscle & Nerve, 2003, v. 27, n. 1, p. 105, doi. 10.1002/mus.10261
- By:
- Publication type:
- Article
Length dependence of variables associated with temporal dispersion in human motor nerves.
- Published in:
- 2001
- By:
- Publication type:
- journal article
GCG repeats and phenotype in oculopharyngeal muscular dystrophy.
- Published in:
- 2001
- By:
- Publication type:
- journal article
Discharge patterns of spontaneous activity and motor units on concentric needle electromyography.
- Published in:
- 2001
- By:
- Publication type:
- journal article
Relation between maximum discharge rates on electromyography and motor unit number estimates.
- Published in:
- 2000
- By:
- Publication type:
- journal article
Successful treatment of orbital myositis with intravenous immunoglobulins.
- Published in:
- 1998
- By:
- Publication type:
- Case Study
Beevor’s sign in facioscapulohumeral muscular dystrophy: an old sign with new implications.
- Published in:
- Journal of Neurology, 2010, v. 257, n. 3, p. 436, doi. 10.1007/s00415-009-5342-9
- By:
- Publication type:
- Article
Frequency of the FKRP mutation c.826C>A in isolated hyperCKemia and in limb girdle muscular dystrophy type 2 in German patients.
- Published in:
- 2010
- By:
- Publication type:
- Letter
Identification of novel Angiogenin ( ANG) gene missense variants in German patients with amyotrophic lateral sclerosis.
- Published in:
- Journal of Neurology, 2009, v. 256, n. 8, p. 1337, doi. 10.1007/s00415-009-5124-4
- By:
- Publication type:
- Article
AMP deaminase deficiency in skeletal muscle is unlikely to be of clinical relevance.
- Published in:
- Journal of Neurology, 2008, v. 255, n. 3, p. 318, doi. 10.1007/s00415-008-0530-6
- By:
- Publication type:
- Article
Between Wallenberg syndrome and hemimedullary lesion.
- Published in:
- Journal of Neurology, 2006, v. 253, n. 11, p. 1442, doi. 10.1007/s00415-006-0231-3
- By:
- Publication type:
- Article
Genetic heterogeneity in 30 German patients with oculopharyngeal muscular dystrophy.
- Published in:
- Journal of Neurology, 2006, v. 253, n. 7, p. 892, doi. 10.1007/s00415-006-0126-y
- By:
- Publication type:
- Article
Lactate production upon short-term non–ischemic forearm exercise in mitochondrial disorders and other myopathies.
- Published in:
- Journal of Neurology, 2006, v. 253, n. 6, p. 735, doi. 10.1007/s00415-006-0101-7
- By:
- Publication type:
- Article
Lactate increase and oxygen desaturation in mitochondrial disorders – Evaluation of two diagnostic screening protocols.
- Published in:
- Journal of Neurology, 2006, v. 253, n. 4, p. 417, doi. 10.1007/s00415-006-0987-0
- By:
- Publication type:
- Article
Only subtle cognitive deficits in non–bulbar amyotrophic lateral sclerosis patients.
- Published in:
- Journal of Neurology, 2006, v. 253, n. 3, p. 333, doi. 10.1007/s00415-005-0992-8
- By:
- Publication type:
- Article
Typical facioscapulohumeral dystrophy phenotype in patients without FSHD 4q35 deletion.
- Published in:
- Journal of Neurology, 2003, v. 250, n. 9, p. 1084, doi. 10.1007/s00415-003-0158-5
- By:
- Publication type:
- Article
Babinski-Nageotte’s syndrome and Hemimedullary (Reinhold’s) syndrome are clinically and morphologically distinct conditions.
- Published in:
- Journal of Neurology, 2003, v. 250, n. 8, p. 938, doi. 10.1007/s00415-003-1118-9
- By:
- Publication type:
- Article
Anterior spinal artery syndrome : The diagnostic value of electromyography (EMG).
- Published in:
- Journal of Neurology, 2002, v. 249, n. 12, p. 1744, doi. 10.1007/s00415-002-0910-2
- By:
- Publication type:
- Article
Clinically symptomatic heterozygous carnitine palmitoyltransferase II (CPT II) deficiency.
- Published in:
- 2012
- By:
- Publication type:
- Report
AMP Deaminase Deficiency Does Not Affect Glycolytic Capacity in Skeletal Muscle during Standardized Ischemic Forearm Exercise Test.
- Published in:
- Journal of Exercise Physiology Online, 2011, v. 14, n. 4, p. 59
- By:
- Publication type:
- Article
The Effect of Resveratrol on Mitochondrial Function in Myoblasts of Patients with the Common m.3243A>G Mutation.
- Published in:
- Biomolecules (2218-273X), 2020, v. 10, n. 8, p. 1103, doi. 10.3390/biom10081103
- By:
- Publication type:
- Article