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1. Full Text Mutations in ATP1A1 Cause Dominant Charcot-Marie-Tooth Type 2
by Lassuthova, Petra and Rebelo, Adriana P and Ravenscroft, Gianina and Lamont, Phillipa J and Davis, Mark R and Manganelli, Fiore and Feely, Shawna M and Bacon, Chelsea and Brožková, Dana Šafka and Haberlova, Jana and Mazanec, Radim and Tao, Feifei and Saghira, Cima and Abreu, Lisa and Courel, Steve and Powell, Eric and Buglo, Elena and Bis, Dana M and Baxter, Megan F and Ong, Royston W and Marns, Lorna and Lee, Yi-Chung and Bai, Yunhong and Isom, Daniel G and Barro-Soria, René and Chung, Ki W and Scherer, Steven S and Larsson, H. Peter and Laing, Nigel G and Choi, Byung-Ok and Seeman, Pavel and Shy, Michael E and Santoro, Lucio and Zuchner, Stephan
The American Journal of Human Genetics, ISSN 0002-9297, 03/2018, Volume 102, Issue 3, pp. 505 - 514
Although mutations in more than 90 genes are known to cause CMT, the underlying genetic cause of CMT remains unknown in more than 50% of affected individuals.... 
axonal neuropathy | Charcot-Marie-Tooth | ATP1A1 | CMT | genetic matchmaking | Mendelian disease | Na+,K+ ATPase | ATPase | NERVOUS-SYSTEM | CMT NEUROPATHY SCORE | ALPHA-SUBUNIT | K+-ATPASE | NA,K-ATPASE | DISEASE | GENETICS & HEREDITY | NA+,K+-ATPASE | NA+ | FAMILIAL HEMIPLEGIC MIGRAINE | EXPRESSION | Amino Acid Sequence | Sodium-Potassium-Exchanging ATPase - genetics | Sodium-Potassium-Exchanging ATPase - chemistry | Humans | Middle Aged | Male | Mutation - genetics | Charcot-Marie-Tooth Disease - genetics | Young Adult | Genes, Dominant | Pedigree | Aged, 80 and over | Adult | Family | Female | Aged | Child | Report
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2. Full Text Quantitative muscle ultrasound as a biomarker in Charcot-Marie-Tooth neuropathy
by Shahrizaila, N and Noto, Y and Simon, NG and Huynh, W and Shibuya, K and Matamala, JM and Dharmadasa, T and Devenney, E and Kennerson, ML and Nicholson, GA and Kiernan, MC
Clinical Neurophysiology, ISSN 1388-2457, 2016, Volume 128, Issue 1, pp. 227 - 232
Highlights • Charcot-Marie-Tooth (CMT) patients have increased muscle echogenicity of hand and lower leg muscles. • In CMT, the volume and thickness of the... 
Neurology | Muscle ultrasound | Charcot-Marie-Tooth | Nerve ultrasound | Outcome biomarkers | CMT Neuropathy Score | NERVE | ADULTS | RELIABILITY | TIME | AMYOTROPHIC-LATERAL-SCLEROSIS | NEUROSCIENCES | CLINICAL NEUROLOGY | 1A | INFANTS | DUCHENNE MUSCULAR-DYSTROPHY | ULTRASONOGRAPHY | DISEASE PROGRESSION | Prospective Studies | Charcot-Marie-Tooth Disease - diagnostic imaging | Humans | Middle Aged | Muscle, Skeletal - diagnostic imaging | Muscle, Skeletal - physiopathology | Adult | Female | Male | Neural Conduction - physiology | Charcot-Marie-Tooth Disease - physiopathology | Ultrasonography - methods | Medicine, Experimental | Medical research
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3. Full Text Axonal excitability in X-linked dominant Charcot Marie Tooth disease
by Liang, Christina and Howells, James and Kennerson, Marina and Nicholson, Garth A and Burke, David and Ng, Karl
Clinical Neurophysiology, ISSN 1388-2457, 2013, Volume 125, Issue 6, pp. 1261 - 1269
Highlights • X-linked Charcot–Marie–Tooth disease type 1 patients have a nerve excitability profile that distinguishes them from other chronic demyelinating... 
Neurology | CMTX | Nerve excitability | Connexin-32 | GJB1 | Demyelination | HUMAN PERIPHERAL-NERVE | ABNORMALITIES | MEMBRANE | INFLAMMATORY DEMYELINATING POLYNEUROPATHY | UNUSUAL ELECTROPHYSIOLOGICAL FINDINGS | NEUROSCIENCES | CLINICAL NEUROLOGY | CONNEXIN 32 MUTATIONS | HEREDITARY MOTOR | NEUROPATHY | CHANNELS | MATURE MOTOR AXONS | Humans | Middle Aged | Connexins - genetics | Male | Axons - physiology | Peripheral Nerves - physiopathology | Young Adult | Median Nerve - physiopathology | Adult | Female | Aged | Charcot-Marie-Tooth Disease - physiopathology | Models, Neurological | Mutation | Index Medicus
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4. Full Text Selected items from the Charcot-Marie-Tooth (CMT) Neuropathy Score and secondary clinical outcome measures serve as sensitive clinical markers of disease severity in CMT1A patients
by Mannil, Manoj and Solari, Alessandra and Leha, Andreas and Pelayo-Negro, Ana L and Berciano, José and Schlotter-Weigel, Beate and Walter, Maggie C and Rautenstrauss, Bernd and Schnizer, Tuuli J and Schenone, Angelo and Seeman, Pavel and Kadian, Chandini and Schreiber, Olivia and Angarita, Natalia G and Fabrizi, Gian Maria and Gemignani, Franco and Padua, Luca and Santoro, Lucio and Quattrone, Aldo and Vita, Giuseppe and Calabrese, Daniela and Young, Peter and Laurà, Matilde and Haberlová, Jana and Mazanec, Radim and Paulus, Walter and Beissbarth, Tim and Shy, Michael E and Reilly, Mary M and Pareyson, Davide and Sereda, Michael W and CMT-TRIAAL CMT-TRAUK Grp and CMT-TRIAAL/CMT-TRAUK Group
Neuromuscular Disorders, ISSN 0960-8966, 2014, Volume 24, Issue 11, pp. 1003 - 1017
Abstract This study evaluates primary and secondary clinical outcome measures in Charcot-Marie-Tooth disease type 1A (CMT1A) with regard to their contribution... 
Neurology | HMSN | Charcot-Marie-Tooth | CMTNS | Score generation | CMT1A | Secondary clinical outcome measures | VALIDATION | RELIABILITY | NEUROSCIENCES | CLINICAL NEUROLOGY | VARIABILITY | TYPE-1A | CHROMOSOME-17 | R-PACKAGE | DUPLICATION | Severity of Illness Index | Age Factors | Double-Blind Method | Outcome Assessment (Health Care) | Humans | Middle Aged | Male | Charcot-Marie-Tooth Disease - drug therapy | Psychomotor Performance - physiology | Disease Progression | Charcot-Marie-Tooth Disease - genetics | Young Adult | Walking | Antioxidants - therapeutic use | Ascorbic Acid - therapeutic use | Adolescent | Adult | Female | Charcot-Marie-Tooth Disease - therapy | Pain Measurement | Muscle Strength | Charcot-Marie-Tooth Disease - diagnosis | Cluster Analysis | Cohort Studies
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5. Full Text D.P.5 Whole exome sequencing applied to Charcot–Marie–Tooth (CMT) disease
by Ong, R.W and Lamont, P.J and Yau, K.S and Kresoje, N and Davis, M.R and Allcock, R.J and Laing, N.G
Neuromuscular Disorders, ISSN 0960-8966, 2012, Volume 22, Issue 9, pp. 808 - 809
Abstract Charcot–Marie–Tooth disease (CMT) is a common inherited peripheral neuropathy associated with mutations in 54 known genes. CMT is characterized by... 
Neurology | Ligases | Analysis | Transfer RNA | Indexing in process
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6. Knowledge, experience, and ruling relations
: studies in the social organization of knowledge
by Campbell, Marie L. 1936- (Marie Louise) and Manicom, Ann
1995, ISBN 0802007201, xix, 288
Methodology | Sociology | Feminist theory | Smith, Dorothy E., 1926 | Knowledge, Sociology of
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7. Full Text Marie Madeleine Ly-Tio-Fane (1928-2011)
by Kwong, Rosemay Ng Kee
Archives of natural history, ISSN 0260-9541, 10/2012, Volume 39, Issue 2, pp. 338 - 341
Historical Studies
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8. Full Text The CMT4B disease-causing phosphatases Mtmr2 and Mtmr13 localize to the Schwann cell cytoplasm and endomembrane compartments, where they depend upon each other to achieve wild-type levels of protein expression
by Ng, Aubree A and Logan, Anne M and Schmidt, Eric J and Robinson, Fred L
Human Molecular Genetics, ISSN 0964-6906, 04/2013, Volume 22, Issue 8, pp. 1493 - 1506
The demyelinating peripheral neuropathy CharcotMarieTooth type 4B (CMT4B) is characterized by axonal degeneration and myelin outfoldings. CMT4B results from... 
PERIPHERAL-NERVE | DISCS-LARGE | MARIE-TOOTH-DISEASE | MYOTUBULARIN-RELATED PROTEIN-2 | PHOSPHATIDYLINOSITOL 3-PHOSPHATE | NEUROPATHY | BIOCHEMISTRY & MOLECULAR BIOLOGY | GENETICS & HEREDITY | ANIMAL-MODEL | MUTATIONS | MEMBRANE HOMEOSTASIS | MYELIN THICKNESS | Sciatic Nerve - pathology | Charcot-Marie-Tooth Disease - enzymology | Humans | Gene Expression Regulation | Axons - metabolism | Nerve Degeneration - genetics | Mice, Transgenic | Cell Membrane - genetics | Phosphatidylinositol 3-Kinases - metabolism | Schwann Cells - metabolism | Charcot-Marie-Tooth Disease - pathology | Cytoplasm - pathology | Schwann Cells - cytology | Charcot-Marie-Tooth Disease - genetics | Animals | Axons - pathology | Protein Tyrosine Phosphatases, Non-Receptor - genetics | Oncogene Protein v-akt - genetics | Cytoplasm - genetics | Mice | Mutation | Oncogene Protein v-akt - metabolism | AKT protein
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9. Full Text Angina and Future Cardiovascular Events in Stable Patients With Coronary Artery Disease: Insights From the Reduction of Atherothrombosis for Continued Health (REACH) Registry
by Eisen, Alon and Bhatt, Deepak L and Steg, P. Gabriel and Eagle, Kim A and Goto, Shinya and Guo, Jianping and Smith, Sidney C and Ohman, E. Magnus and Scirica, Benjamin M and REACH Registry Investigators and the REACH Registry Investigators
Journal of the American Heart Association, ISSN 2047-9980, 10/2016, Volume 5, Issue 10, p. n/a
Background The extent to which angina is associated with future cardiovascular events in patients with coronary artery disease has long been debated. Methods... 
cardiovascular events | coronary artery disease | angina | Cardiovascular events | Coronary artery disease | Angina | CARDIAC & CARDIOVASCULAR SYSTEMS | OUTPATIENTS | MYOCARDIAL-ISCHEMIA | RISK | SYMPTOMS | RATES | HEART-DISEASE | SOUL | PECTORIS | CLARIFY REGISTRY | CLINICAL-OUTCOMES | United States - epidemiology | Myocardial Infarction - epidemiology | Prognosis | Humans | Middle Aged | Proportional Hazards Models | Hospitalization - statistics & numerical data | Male | Case-Control Studies | Myocardial Revascularization - utilization | Angina, Stable - epidemiology | Cardiovascular Diseases - mortality | Female | Registries | Stroke - epidemiology | Aged | Coronary Artery Disease - epidemiology | Odds Ratio | Heart Failure - epidemiology
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10. Full Text Dejerine–Sottas disease in childhood—Genetic and sonographic heterogeneity
by Hobbelink, Sanne M. R and Brockley, Cain R and Kennedy, Rachel A and Carroll, Kate and de Valle, Katy and Rao, Padma and Davis, Mark R and Laing, Nigel G and Voermans, Nicol C and Ryan, Monique M and Yiu, Eppie M
Brain and Behavior, ISSN 2162-3279, 04/2018, Volume 8, Issue 4, pp. e00919 - n/a
Introduction The nerve sonographic features of Dejerine‐Sottas disease (DSD) have not previously been described. Methods This exploratory cross‐sectional,... 
Charcot–Marie–Tooth disease | Dejerine–Sottas disease | peripheral neuropathy | ultrasound | pediatric | Dejerine-Sottas disease | MARIE-TOOTH-DISEASE | HEREDITARY MOTOR | Charcot-Marie-Tooth disease | BEHAVIORAL SCIENCES | MUTATIONS | SENSORY NEUROPATHY | NEUROSCIENCES | Genetic research | Diagnostic imaging | Children | Ultrasound imaging | Analysis | Diseases | Ultrasonic imaging | Mutation
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11. Full Text Persistent lipid abnormalities in statin-treated patients with diabetes mellitus in Europe and Canada: results of the Dyslipidaemia International Study
by Leiter, L. A and Lundman, P and da Silva, P. M and xel, H and Jünger, C and Gitt, A. K and Absenger, Guun and Albrich, Ernst and Allinger, Berndt and Allinger, Stephan and Anacher, Gerald and Angermayr, Gertraud and Angermeier, Hermann and Anzengruber, Aneas and Archimanitis, Gabriele and Arnsteiner, Patricia and Auberger, Wolfgang and Azhary, Mawaheb and Barfuss, Michael and Bauer, Christian and Bauer, Birgit Elisabeth and Beclin, Thomas and Binder, Thomas and Binder, Gabriele and Böhler, Dietmar and Brändle, Johann and Breslmair, Jörg and Brettlecker, Marlis and Bürger, Michael and Calvi, Inge and Dorfinger, Werner and Doringer-Schnepf, Elisabeth and Eer, Anton and Eckmayr, Christine and Eder, Franz and Egermann, Margit and Erath, Michael and Etzinger, Michael and Etzinger, Claudia and Fiedler, Lothar and Filip, Wolfgang and Filip, Michaela and Föchterle, Johann and Fodor, Anita and Frieden, Thomas and Gareiss, Mertens and Gföllner, Peter and Ghamarian, Thomas and Goritschan, Michael and Haar, Klaus and Habeler, Gerhard and Hadjiivanov, Valery and Haiböck, Christian and Hammer, Regina and Hartmann, Siegfried and Haschkovitz, Herbert and Hauer, Walter and Hauer, Josef and Haunschmidt, Christian and Heimayr, Christine and Hengl, Wolfgang and Hengl, Gunter and Hermann, Rudolf and Herrmann, Rainer and Hillebrand, Roswitha and Hintersteininger, Otto and Hirsch, Michael and Hitzinger, Martin and Hochegger, Tanja and Hockl, Wolfgang and Hoi, Michael and Hörmann, Jan and Hudler, Brigitte and Imb, Gerhard and Joichl, Anea and Jungbauer, Karl and Kapl, Gerlinde and Kerschbaum, Margit and Kienesberger, Franz and Killinger, Gerhard and Kitzler, Gerhard and Klein, Franz and Kleinbichler, Dietmar and Kohr, Anton and Kopetzky, Michael and Korthals, Christian and Kortschak, Werner and Koschutnik, Martin and Kraus, Werner A and Kurzemann, Susanne and Lavicka, Claus and Lehner, Guido and Lenz, Jürgen and Lepuschütz, Sabine and Lichtenwallner, Michael and Lober, Reinhard and Loidl, Christine and Lopatka, Eduard and Ludwig, Rudolf and Maca, Thomas and ... and DYSIS Investigators and DYSIS investigators
Diabetic medicine, ISSN 0742-3071, 2011, Volume 28, Issue 11, pp. 1343 - 1351
To assess the prevalence of persistent lipid abnormalities in statin-treated patients with diabetes with and without the metabolic syndrome. This was a... 
metabolic syndrome | cardiovascular disease | diabetes mellitus | dyslipidaemia | statins | Cardiovascular disease | Dyslipidaemia | Metabolic syndrome | Diabetes mellitus | Statins | METAANALYSIS | GUIDELINES | PREVENTION | DENSITY-LIPOPROTEIN CHOLESTEROL | THERAPY | REDUCTION | ENDOCRINOLOGY & METABOLISM | CORONARY-HEART-DISEASE | CLINICAL-PRACTICE | CARDIOVASCULAR RISK | LOW HDL-CHOLESTEROL | Hydroxymethylglutaryl-CoA Reductase Inhibitors - administration & dosage | Humans | Diabetic Angiopathies - etiology | Male | Metabolic Syndrome - drug therapy | Diabetes Mellitus, Type 2 - epidemiology | Metabolic Syndrome - blood | Canada - epidemiology | Cardiovascular Diseases - epidemiology | Cholesterol, LDL - blood | Female | Dyslipidemias - etiology | Diabetes Mellitus, Type 2 - complications | Metabolic Syndrome - epidemiology | Cardiovascular Diseases - etiology | Diabetic Angiopathies - chemically induced | Cross-Sectional Studies | Cholesterol, HDL - drug effects | Europe - epidemiology | Cholesterol, LDL - drug effects | Diabetic Angiopathies - blood | Anticholesteremic Agents - adverse effects | Metabolic Syndrome - complications | Diabetes Mellitus, Type 2 - blood | Dyslipidemias - epidemiology | Hydroxymethylglutaryl-CoA Reductase Inhibitors - adverse effects | Anticholesteremic Agents - administration & dosage | Dyslipidemias - chemically induced | Cholesterol, HDL - blood | Diabetic Angiopathies - epidemiology | Aged | Cardiovascular Diseases - chemically induced | Diabetes Mellitus, Type 2 - drug therapy | Diabetics | Blood cholesterol | Simvastatin | Low density lipoproteins | Triglycerides | Diabetes | Risk factors | Trans fatty acids
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