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1. Full Text Role of Gα(olf) in familial and sporadic adult-onset primary dystonia
by Vemula, Satya R and Puschmann, Andreas and Xiao, Jianfeng and Zhao, Yu and Rudzińska, Monika and Frei, Karen P and Truong, Daniel D and Wszolek, Zbigniew K and LeDoux, Mark S and Lund University and Klinisk neurogenetik and Neurologi, Lund and MultiPark: Multidisciplinary research focused on Parkinson´s disease and Clinical Neurogenetics and Neurology, Lund and Lunds universitet
Human Molecular Genetics, ISSN 0964-6906, 06/2013, Volume 22, Issue 12, pp. 2510 - 2519
The vast majority of patients with primary dystonia are adults with focal or segmental distribution of involuntary movements. Although ~10% of probands have at... 
Amino Acid Sequence | Dystonic Disorders - genetics | European Continental Ancestry Group - genetics | GTP-Binding Protein alpha Subunits - metabolism | GTP-Binding Protein alpha Subunits - chemistry | Humans | Middle Aged | Molecular Sequence Data | GTP-Binding Protein alpha Subunits - genetics | Male | Dystonic Disorders - enzymology | Sequence Alignment | Pedigree | Adult | Female | Mutation | Basic Medicine | Medical and Health Sciences | Medicin och hälsovetenskap | neurogenetics | olfaction | Medicinsk genetik | Medical Genetics | genetics | GNAL | dystonia | Medicinska och farmaceutiska grundvetenskaper | Purkinje cell | movement disorders
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2. Full Text Role of G(olf) in familial and sporadic adult-onset primary dystonia
by Vemula, SR and Puschmann, A and Xiao, JF and Zhao, Y and Rudzinska, M and Frei, KP and Truong, DD and Wszolek, ZK and LeDoux, MS
HUMAN MOLECULAR GENETICS, ISSN 0964-6906, 06/2013, Volume 22, Issue 12, pp. 2510 - 2519
The vast majority of patients with primary dystonia are adults with focal or segmental distribution of involuntary movements. Although 10 of probands have at... 
PRIMARY CERVICAL DYSTONIA | CHROMOSOME 18P | GERMANY | GENE | BIOCHEMISTRY & MOLECULAR BIOLOGY | GENETICS & HEREDITY | FOCAL DYSTONIA | PRIMARY TORSION DYSTONIA | MUTATIONS | HISTONE H3 PHOSPHORYLATION | EXPRESSION | DELETION
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3. Full Text Elevated cerebral blood flow velocities in Fabry disease with reversal after enzyme replacement
by Moore, David F and Altarescu, Gheona and Ling, Geoffrey S.F and Jeffries, Neal and Frei, Karen P and Weibel, Thais and Charria-Ortiz, Gustavo and Ferri, Raymond and Arai, Andrew E and Brady, Roscoe O and Schiffmann, Raphael
Stroke, ISSN 0039-2499, 2002, Volume 33, Issue 2, pp. 525 - 531
Background and Purpose-Fabry disease is an X-linked inherited disorder resulting from a deficiency of alpha-galactosidase A. Cerebrovascular disease in Fabry... 
Cerebrovascular accident | Fabry disease | Ultrasonography, Doppler, transcranial | Cerebrovascular disorders | Blood flow velocity | STORAGE | SYSTEM | INVOLVEMENT | ultrasonography, Doppler, transcranial | cerebrovascular accident | CLINICAL NEUROLOGY | blood flow velocity | PERIPHERAL VASCULAR DISEASE | VALUES | cerebrovascular disorders | TRANSCRANIAL DOPPLER SONOGRAPHY | ARTERY | alpha-Galactosidase - therapeutic use | Carbon Dioxide - metabolism | Double-Blind Method | Follow-Up Studies | Cerebrovascular Circulation - drug effects | Cardiac Output - drug effects | Humans | Middle Aged | Male | Treatment Outcome | Heart Rate - drug effects | Pulsatile Flow - drug effects | Ultrasonography, Doppler, Transcranial | Fabry Disease - physiopathology | Adult | Fabry Disease - drug therapy | Blood Flow Velocity - drug effects | Cohort Studies | Hypercapnia - metabolism
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4. Full Text The c.‐237_236GA>TT THAP1 sequence variant does not increase risk for primary dystonia
by Xiao, Jianfeng and Zhao, Yu and Bastian, Robert W and Perlmutter, Joel S and Racette, Brad A and Tabbal, Samer D and Karimi, Morvarid and Paniello, Randal C and Wszolek, Zbigniew K and Uitti, Ryan J and Van Gerpen, Jay A and Simon, David K and Tarsy, Daniel and Hedera, Peter and Truong, Daniel D and Frei, Karen P and Blitzer, Andrew and Rudzińska, Monika and Pfeiffer, Ronald F and Le, Carrie and LeDoux, Mark S
Movement Disorders, ISSN 0885-3185, 02/2011, Volume 26, Issue 3, pp. 549 - 553
Background: Sequence variants in coding and noncoding regions of THAP1 have been associated with primary dystonia. Methods: In this study, 1,446 Caucasian... 
untranslated region | dystonia | high‐resolution melting | DYT6 | THAP1 | Dystonia | High-resolution melting | Untranslated region | MODULE | GENE | high-resolution melting | ZINC-FINGER | MUTATIONS | CLINICAL NEUROLOGY | Dystonic Disorders - genetics | European Continental Ancestry Group - genetics | Gene Frequency | Humans | Middle Aged | Genotype | Male | DNA-Binding Proteins - genetics | Mutation - genetics | Young Adult | Base Sequence | Adolescent | Aged, 80 and over | Apoptosis Regulatory Proteins - genetics | Adult | Female | Aged | Nuclear Proteins - genetics | Child | Dystonic Disorders - etiology | Untranslated Regions - genetics
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5. Full Text Molecular defects of the dystonia-causing torsinA mutation
by Pham, Phuong and Frei, Karen P and Woo, William and Truong, Daniel D
NeuroReport, ISSN 0959-4965, 11/2006, Volume 17, Issue 16, pp. 1725 - 1728
The ΔGAG deletion mutation in DYT1, causing a loss of a glutamic acid near the carboxyl terminus of torsinA protein (torsinAΔE), is dominantly inherited and... 
AAA+ superfamily | TorsinA | DYT1 | Dystonia | Protein-protein interaction | EARLY-ONSET DYSTONIA | CELLS | LOCALIZATION | DYT1 DYSTONIA | PROTEIN | MUTANT TORSINA | SUPPRESSION | NEUROSCIENCES | FORMS | NUCLEAR-ENVELOPE | AAA plus superfamily. clystonia | torsinA | protein-protein interaction | AGGREGATION | Sequence Deletion | Humans | Molecular Chaperones - genetics | Molecular Chaperones - chemistry | Recombinant Fusion Proteins - chemistry | Dystonia Musculorum Deformans - genetics | Two-Hybrid System Techniques | Multiprotein Complexes - chemistry | Recombinant Fusion Proteins - genetics | Adenosine Triphosphatases - chemistry | Adenosine Triphosphatases - genetics | Mutation | Chromatography, Gel
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6. Full Text High-throughput mutational analysis of TOR1A in primary dystonia
by Xiao, Jianfeng and Bastian, Robert W and Perlmutter, Joel S and Racette, Brad A and Tabbal, Samer D and Karimi, Morvarid and Paniello, Randal C and Blitzer, Andrew and Batish, Sat and Wszolek, Zbigniew K and Uitti, Ryan J and Hedera, Peter and Simon, David K and Tarsy, Daniel and Truong, Daniel D and Frei, Karen P and Pfeiffer, Ronald F and Gong, Suzhen and Zhao, Yu and LeDoux, Mark S
BMC Medical Genetics, ISSN 1471-2350, 03/2009, Volume 10, Issue 1, pp. 24 - 24
Background: Although the c.904_906delGAG mutation in Exon 5 of TOR1A typically manifests as early-onset generalized dystonia, DYT1 dystonia is genetically and... 
EARLY-ONSET DYSTONIA | DYT1 MUTATION | PRIMARY TORSION-DYSTONIA | IDIOPATHIC DYSTONIA | DE-NOVO MUTATIONS | RESOLUTION MELTING ANALYSIS | GAG DELETION | GENETICS & HEREDITY | PHENOTYPIC VARIABILITY | FOCAL DYSTONIA | CONDUCTANCE REGULATOR GENE | Dystonic Disorders - genetics | Genetic Predisposition to Disease | Exons | Humans | Middle Aged | Molecular Chaperones - genetics | Child, Preschool | Male | Young Adult | DNA Mutational Analysis | Adolescent | Age of Onset | Aged, 80 and over | Adult | Female | Aged | Mutation | Child | Cohort Studies | Genetic aspects | Dystonia | Diagnosis | Research | Gene mutations | Health aspects
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7. Full Text The c.-237_236GA>TT THAP1 sequence variant does not increase risk for primary dystonia
: THAP1 Sequence Variant
by Xiao, Jianfeng and Zhao, Yu and Bastian, Robert W and Perlmutter, Joel S and Racette, Brad A and Tabbal, Samer D and Karimi, Morvarid and Paniello, Randal C and Wszolek, Zbigniew K and Uitti, Ryan J and Van Gerpen, Jay A and Simon, David K and Tarsy, Daniel and Hedera, Peter and Truong, Daniel D and Frei, Karen P and Blitzer, Andrew and Rudzińska, Monika and Pfeiffer, Ronald F and Le, Carrie and LeDoux, Mark S
Movement Disorders, ISSN 0885-3185, 02/2011, Volume 26, Issue 3, pp. 549 - 553
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8. Myoclonus in Gaucher disease
by Frei, Karen P and Schiffmann, Raphael
Advances in neurology, ISSN 0091-3952, 2002, Volume 89, pp. 41 - 48
Myoclonus - pathology | Brain - physiopathology | Humans | Myoclonus - etiology | Brain - pathology | Electroencephalography | Gaucher Disease - complications | Gaucher Disease - pathology | Myoclonus - physiopathology
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9. Full Text Natural history of posttraumatic cervical dystonia
by Frei, Karen P and Pathak, Mayank and Jenkins, Stephen and Truong, Daniel D
Movement Disorders, ISSN 0885-3185, 12/2004, Volume 19, Issue 12, pp. 1492 - 1498
We studied a case series of 9 patients with posttraumatic cervical dystonia, in whom involuntary muscle spasms and abnormal head postures occurred within 7... 
posttraumatic torticollis | complex regional pain syndrome | Complex regional pain syndrome | Posttraumatic torticollis | TRAUMA INDUCE DYSTONIA | PERIPHERAL TRAUMA | MOVEMENT-DISORDERS | REFLEX SYMPATHETIC DYSTROPHY | MUSCLE | CAUSALGIA | INJURY | TORTICOLLIS | CLINICAL NEUROLOGY | Severity of Illness Index | Neck Injuries - complications | Torticollis - etiology | Humans | Middle Aged | Torticollis - physiopathology | Brain Injuries - complications | Male | Neuromuscular Agents - therapeutic use | Botulinum Toxins, Type A - therapeutic use | Torticollis - drug therapy | Adult | Female
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10. Full Text Constitutive Achlorhydria in Mucolipidosis Type IV
by Raphael Schiffmann and Nancy K. Dwyer and Irina A. Lubensky and Maria Tsokos and Vincent E. Sutliff and John S. Latimer and Karen P. Frei and Roscoe O. Brady and Norman W. Barton and E. Joan Blanchette-Mackie and Ehud Goldin
Proceedings of the National Academy of Sciences of the United States of America, ISSN 0027-8424, 2/1998, Volume 95, Issue 3, pp. 1207 - 1212
Mucolipidosis type IV is an autosomal recessive lysosomal storage disease of unknown etiology that causes severe neurological and ophthalmological... 
Epithelial cells | Lysosomes | Antibodies | Biopsies | Cell membranes | Achlorhydria | Gastric parietal cells | Gastric juice | Animal cells | Cells | PAIN | MULTIDISCIPLINARY SCIENCES | CULTURED SKIN FIBROBLASTS | SECRETORY FUNCTION | NATURAL-HISTORY | CHILDREN | BASAL | Physiological aspects | Gastrin
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11. Full Text Hallucinations and the spectrum of p sychosis in Parkinson ' s d isease
by Frei, Karen and Truong, Daniel D
Journal of the Neurological Sciences, ISSN 0022-510X, 2016
Abstract Hallucinations and psychosis can be a part of Parkinson ' s disease and are considered to be a nonmotor symptom or a neuropsychiatric complication of... 
Neurology
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12. Full Text Genetics in neurology
by Frei, Karen P and Fuentes, Janice
05/2016, ISBN 1118777360, 7
This chapter attempts to describe the basics of genetics using selective neurological diseases as examples. Mutations can produce no change in the protein or... 
von hippel‐lindau disease | neurological diseases | genetics | nonsense suppression therapy | gene therapy | xeroderma pigmentosum | incontinentia pigmenti | neurofibromatosis | Sturge‐Weber syndrome
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13. Full Text Novel human pathological mutations. Gene symbol: THAP1. Disease: dystonia 6
by Xiao, Jianfeng and Zhao, Y and Bastian, Robert W and Perlmutter, Joel S and Racette, Brad A and Tabbal, Samer D and Karimi, Morvarid and Paniell, Randal and Blitzer, Andrew and Batish, Sat Dev and Wszolek, Zbigniew K and Uitti, Ryan J and Van Gerpen, Jay A and Hedera, Peter and Simon, David K and Tarsy, Daniel and Truong, Daniel D and Frei, Karen P and Pfeiffer, Ronald F and Gong, Suzhen and LeDoux, Mark S
Human genetics, 04/2010, Volume 127, Issue 4, p. 469
Base Sequence | Humans | Apoptosis Regulatory Proteins - genetics | Codon - genetics | Mutation, Missense | DNA-Binding Proteins - genetics | Dystonia Musculorum Deformans - genetics | Nuclear Proteins - genetics | Amino Acid Substitution
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14. Full Text Novel human pathological mutations. Gene symbol: THAP1. Disease: dystonia 6
by Xiao, Jianfeng and Zhao, Y and Bastian, Robert W and Perlmutter, Joel S and Racette, Brad A and Tabbal, Samer D and Karimi, Morvarid and Paniello, Randal and Blitzer, Andrew and Batish, Sat Dev and Wszolek, Zbigniew K and Uitti, Ryan J and Van Gerpen, Jay A and Hedera, Peter and Simon, David K and Tarsy, Daniel and Truong, Daniel D and Frei, Karen P and Pfeiffer, Ronald F and Gong, Suzhen and LeDoux, Mark S
Human genetics, 04/2010, Volume 127, Issue 4, p. 470
Base Sequence | Humans | Apoptosis Regulatory Proteins - genetics | Codon - genetics | Mutation, Missense | DNA-Binding Proteins - genetics | Dystonia Musculorum Deformans - genetics | Nuclear Proteins - genetics | Amino Acid Substitution
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15. Full Text Novel human pathological mutations. Gene symbol: THAP1. Disease: dystonia 6
by Xiao, Jianfeng and Zhao, Yu and Bastian, Robert W and Perlmutter, Joel S and Racette, Brad A and Tabbal, Samer D and Karimi, Morvarid and Paniello, Randal and Blitzer, Andrew and Batish, Sat Dev and Wszolek, Zbigniew K and Uitti, Ryan J and Van Gerpen, Jay A and Hedera, Peter and Simon, David K and Tarsy, Daniel and Truong, Daniel D and Frei, Karen P and Pfeiffer, Ronald F and Gong, Suzhen and LeDoux, Mark S
Human genetics, 04/2010, Volume 127, Issue 4, p. 469
Base Sequence | Humans | Apoptosis Regulatory Proteins - genetics | Codon - genetics | Mutation, Missense | DNA-Binding Proteins - genetics | Dystonia Musculorum Deformans - genetics | Nuclear Proteins - genetics | Amino Acid Substitution
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16. Full Text Novel human pathological mutations. Gene symbol: THAP1. Disease: dystonia 6
by Xiao, Jianfeng and Bastian, Robert W and Perlmutter, Joel S and Racette, Brad A and Tabbal, Samer D and Karimi, Morvarid and Paniello, Randal and Blitzer, Andrew and Batish, Sat Dev and Wszolek, Zbigniew K and Uitti, Ryan J and Van Gerpen, Jay A and Hedera, Peter and Simon, David K and Tarsy, Daniel and Truong, Daniel D and Frei, Karen P and Pfeiffer, Ronald F and Gong, Suzhen and LeDoux, Mark S
Human genetics, 04/2010, Volume 127, Issue 4, p. 470
Base Sequence | Humans | Apoptosis Regulatory Proteins - genetics | Codon - genetics | Mutation, Missense | DNA-Binding Proteins - genetics | Dystonia Musculorum Deformans - genetics | Nuclear Proteins - genetics | Amino Acid Substitution
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17. Full Text Novel human pathological mutations. Gene symbol: THAP1. Disease: dystonia 6
by Xiao, Jianfeng and Zhao, Yu and Bastian, Robert W and Perlmutter, Joel S and Racette, Brad A and Tabbal, Samer D and Karimi, Morvarid and Paniello, Randal and Blitzer, Andrew and Batish, Sat Dev and Wszolek, Zbigniew K and Uitti, Ryan J and Van Gerpen, Jay A and Hedera, Peter and Simon, David K and Tarsy, Daniel and Truong, Daniel D and Frei, Karen P and Pfeiffer, Ronald F and Gong, Suzhen and LeDoux, Mark S
Human genetics, 04/2010, Volume 127, Issue 4, p. 470
Base Sequence | Humans | Apoptosis Regulatory Proteins - genetics | Codon - genetics | Mutation, Missense | DNA-Binding Proteins - genetics | Dystonia Musculorum Deformans - genetics | Nuclear Proteins - genetics | Amino Acid Substitution
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18. Full Text Novel human pathological mutations. Gene symbol: THAP1. Disease: dystonia 6
by Xiao, Jianfeng and Zhao, Yu and Bastian, Robert W and Perlmutter, Joel S and Racette, Brad A and Tabbal, Samer D and Karimi, Morvarid and Paniello, Randal and Blitzer, Andrew and Batish, Sat Dev and Wszolek, Zbigniew K and Uitti, Ryan J and Van Gerpen, Jay A and Hedera, Peter and Simon, David K and Tarsy, Daniel and Truong, Daniel D and Frei, Karen P and Pfeiffer, Ronald F and Gong, Suzhen and LeDoux, Mark S
Human genetics, 04/2010, Volume 127, Issue 4, p. 469
Base Sequence | Humans | Apoptosis Regulatory Proteins - genetics | Codon - genetics | Mutation, Missense | DNA-Binding Proteins - genetics | Dystonia Musculorum Deformans - genetics | Nuclear Proteins - genetics | Amino Acid Substitution
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19. Full Text Genetics in Neurology
by Frei, Karen P
09/2009, ISBN 1405157380, 5
This chapter contains sections titled: Introduction The basics Mendelian genetics Reduced penetrance Variable expressivity Trinucleotide repeats Genomic... 
Mendelian genetics | dystonia, Oppenheimer's dystonia (DYT1) ‐ inherited in autosomal dominant pattern with reduced penetrance and variable expressivity | neurocutaneous disorders ‐ phakomatoses disorders involving skin and brain | inherited traits ‐ Gregor Mendel describing heritability of traits in pea plants | inherited susceptibility to cerebellar and spinal cord hemangioblastomas ‐ in Von Hippel–Lindau disease (VHL) | genetics in neurology | autosomal recessive inheritance | mitochondrial disorders | Rett's syndrome, example of X‐linked dominant inheritance pattern | autosomal dominant inheritance | Rett's syndrome, example of X-linked dominant inheritance pattern | Mitochondrial disorders | Autosomal dominant inheritance | Inherited susceptibility to cerebellar and spinal cord hemangioblastomas - in Von Hippel-Lindau disease (VHL) | Autosomal recessive inheritance | Inherited traits - Gregor Mendel describing heritability of traits in pea plants | Genetics in neurology | Dystonia, Oppenheimer's dystonia (DYT1) - inherited in autosomal dominant pattern with reduced penetrance and variable expressivity | Neurocutaneous disorders - phakomatoses disorders involving skin and brain
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20. Full Text Constitutive achlorhydria in mucolipidosis type IV
by Raphael Schiffmann and Nancy K. Dwyer and Irina A. Lubensky and Maria Tsokos and Vincent E. Sutliff and John S. Latimer and Karen P. Frei and Roscoe O. Brady and Norman W. Barton and E. Joan Blanchette-Mackie and Ehud Goldin
Proceedings of the National Academy of Sciences of the United States of America, ISSN 0027-8424, 02/1998, Volume 95, Issue 3, pp. 1207 - 1212
Mucolipidosis type IV is an autosomal recessive lysosomal storage disease of unknown etiology that causes severe neurological and ophthalmological... 
H(+)-K(+)-Exchanging ATPase - metabolism | Gastric Acid - chemistry | Humans | Actins - metabolism | Child, Preschool | Achlorhydria - pathology | Gastroscopy | Mucolipidoses - physiopathology | Microscopy, Confocal | Mucolipidoses - complications | Mucolipidoses - pathology | Parietal Cells, Gastric - pathology | Adolescent | Achlorhydria - complications | Adult | Child | Biological Sciences
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