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Tytuł :
Variation in SIPA1L2 is correlated with phenotype modification in Charcot- Marie- Tooth disease type 1A.
Autorzy :
Tao F; Department for Human Genetics and Hussman Institute for Human Genomics, University of Miami, Miami, FL.
Beecham GW; Department for Human Genetics and Hussman Institute for Human Genomics, University of Miami, Miami, FL.
Rebelo AP; Department for Human Genetics and Hussman Institute for Human Genomics, University of Miami, Miami, FL.
Svaren J; Department of Comparative Biosciences and Waisman Center, University of Wisconsin, Madison, WI.
Blanton SH; Department for Human Genetics and Hussman Institute for Human Genomics, University of Miami, Miami, FL.
Moran JJ; Department of Comparative Biosciences and Waisman Center, University of Wisconsin, Madison, WI.
Lopez-Anido C; Department of Comparative Biosciences and Waisman Center, University of Wisconsin, Madison, WI.
Morrow JM; Medical Research Council Centre for Neuromuscular Diseases, University College London Institute of Neurology, London, United Kingdom.
Abreu L; Department for Human Genetics and Hussman Institute for Human Genomics, University of Miami, Miami, FL.
Rizzo D; Data Management and Coordinating Center, Rare Diseases Clinical Research Network, Pediatrics Epidemiology Center, University of South Florida, Tampa, FL.
Kirk CA; Data Management and Coordinating Center, Rare Diseases Clinical Research Network, Pediatrics Epidemiology Center, University of South Florida, Tampa, FL.
Wu X; Department of Neurology, University of Iowa, Iowa City, IA.
Feely S; Department of Neurology, University of Iowa, Iowa City, IA.
Verhamme C; Department of Neurology, Academic Medical Center, Amsterdam, the Netherlands.
Saporta MA; Department of Neurology, University of Miami, Miami, FL.
Herrmann DN; Department of Neurology, University of Rochester, Rochester, NY.
Day JW; Department of Neurology, Stanford University, Palo Alto, CA.
Sumner CJ; Department of Neurology, Johns Hopkins University School of Medicine, Baltimore, MD.; Department of Neuroscience, Johns Hopkins University School of Medicine, Baltimore, MD.
Lloyd TE; Department of Neurology, Johns Hopkins University School of Medicine, Baltimore, MD.; Department of Neuroscience, Johns Hopkins University School of Medicine, Baltimore, MD.
Li J; Department of Neurology, Wayne State University School of Medicine, Detroit, MI.
Yum SW; Division of Neurology, Children's Hospital of Philadelphia, Philadelphia, PA.
Taroni F; Istituto di Ricovero e Cura a Carattere Scientifico (IRCCS), Foundation Carlo Besta Neurological Institute, Milan, Italy.
Baas F; Department of Clinical Genetics, Leiden University Medical Center, Leiden, the Netherlands.
Choi BO; Department of Neurology, Samsung Medical Center, Sungkyunkwan University School of Medicine, Seoul, South Korea.
Pareyson D; Istituto di Ricovero e Cura a Carattere Scientifico (IRCCS), Foundation Carlo Besta Neurological Institute, Milan, Italy.
Scherer SS; Department of Neurology, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA.
Reilly MM; Medical Research Council Centre for Neuromuscular Diseases, University College London Institute of Neurology, London, United Kingdom.
Shy ME; Department of Neurology, University of Iowa, Iowa City, IA.
Züchner S; Department for Human Genetics and Hussman Institute for Human Genomics, University of Miami, Miami, FL.
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Corporate Authors :
Inherited Neuropathy Consortium
Źródło :
Annals of neurology [Ann Neurol] 2019 Mar; Vol. 85 (3), pp. 316-330.
Typ publikacji :
Journal Article; Research Support, N.I.H., Extramural; Research Support, Non-U.S. Gov't
Journal Info :
Publisher: Wiley-Liss Country of Publication: United States NLM ID: 7707449 Publication Model: Print Cited Medium: Internet ISSN: 1531-8249 (Electronic) Linking ISSN: 03645134 NLM ISO Abbreviation: Ann. Neurol. Subsets: MEDLINE
MeSH Terms :
Charcot-Marie-Tooth Disease/*genetics
Foot/*physiopathology
GTPase-Activating Proteins/*genetics
Genes, Modifier/*genetics
Muscle Weakness/*genetics
Adolescent ; Adult ; Aged ; Aged, 80 and over ; Animals ; Cell Line, Tumor ; Charcot-Marie-Tooth Disease/physiopathology ; Child ; Child, Preschool ; Female ; Gene Expression Regulation ; Gene Knockdown Techniques ; Gene Regulatory Networks ; Humans ; In Vitro Techniques ; Male ; Middle Aged ; Muscle Weakness/physiopathology ; Myelin Proteins/genetics ; Neurilemmoma/genetics ; Phenotype ; Polymorphism, Single Nucleotide ; Rats ; Severity of Illness Index ; Young Adult
Czasopismo naukowe
Tytuł :
Modifier Gene Candidates in Charcot-Marie-Tooth Disease Type 1A: A Case-Only Genome-Wide Association Study.
Autorzy :
Tao F; Department for Human Genetics and Hussman Institute for Human Genomics, University of Miami, Miami, FL, USA.
Beecham GW; Department for Human Genetics and Hussman Institute for Human Genomics, University of Miami, Miami, FL, USA.
Rebelo AP; Department for Human Genetics and Hussman Institute for Human Genomics, University of Miami, Miami, FL, USA.
Blanton SH; Department for Human Genetics and Hussman Institute for Human Genomics, University of Miami, Miami, FL, USA.
Moran JJ; Department of Comparative Biosciences and Waisman Center, University of Wisconsin, Madison, WI, USA.
Lopez-Anido C; Department of Comparative Biosciences and Waisman Center, University of Wisconsin, Madison, WI, USA.
Svaren J; Department of Comparative Biosciences and Waisman Center, University of Wisconsin, Madison, WI, USA.
Abreu L; Department for Human Genetics and Hussman Institute for Human Genomics, University of Miami, Miami, FL, USA.
Rizzo D; Data Management and Coordinating Center, Rare Diseases Clinical Research Network, Pediatrics Epidemiology Center, University of South Florida, Tampa, FL, USA.
Kirk CA; Data Management and Coordinating Center, Rare Diseases Clinical Research Network, Pediatrics Epidemiology Center, University of South Florida, Tampa, FL, USA.
Wu X; Department of Neurology, University of Iowa, Iowa City, IA, USA.
Feely S; Department of Neurology, University of Iowa, Iowa City, IA, USA.
Verhamme C; Department of Neurology, Academic Medical Centre, Amsterdam, The Netherlands.
Saporta MA; Department of Neurology, University of Miami, Miami, FL, USA.
Herrmann DN; Department of Neurology, University of Rochester, Rochester, NY, USA.
Day JW; Department of Neurology, Stanford University, Palo Alto, CA, USA.
Sumner CJ; Department of Neurology, Johns Hopkins University School of Medicine, Baltimore, MD, USA.; Department of Neuroscience, Johns Hopkins University School of Medicine, Baltimore, MD, USA.
Lloyd TE; Department of Neurology, Johns Hopkins University School of Medicine, Baltimore, MD, USA.; Department of Neuroscience, Johns Hopkins University School of Medicine, Baltimore, MD, USA.
Li J; Department of Neurology, Wayne State University School of Medicine, Detroit, MI, USA.
Yum SW; Division of Neurology, The Children's Hospital of Philadelphia, Philadelphia, PA, USA.
Taroni F; IRCCS Foundation Carlo Besta Neurological Institute, Milan, Italy.
Baas F; Department of Clinical Genetics, Leiden University Medical Center, Leiden, The Netherlands.
Choi BO; Department of Neurology, Samsung Medical Center, Sungkyunkwan University School of Medicine, Seoul, Korea.
Pareyson D; IRCCS Foundation Carlo Besta Neurological Institute, Milan, Italy.
Scherer SS; Department of Neurology, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA, USA.
Reilly MM; MRC Centre for Neuromuscular Diseases, UCL Institute of Neurology, Queen Square, London, UK.
Shy ME; Department of Neurology, University of Iowa, Iowa City, IA, USA.
Züchner S; Department for Human Genetics and Hussman Institute for Human Genomics, University of Miami, Miami, FL, USA.
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Corporate Authors :
Inherited Neuropathy Consortium
Źródło :
Journal of neuromuscular diseases [J Neuromuscul Dis] 2019; Vol. 6 (2), pp. 201-211.
Typ publikacji :
Journal Article
Journal Info :
Publisher: IOS Press Country of Publication: Netherlands NLM ID: 101649948 Publication Model: Print Cited Medium: Internet ISSN: 2214-3602 (Electronic) NLM ISO Abbreviation: J Neuromuscul Dis Subsets: MEDLINE
MeSH Terms :
Charcot-Marie-Tooth Disease/*genetics
Genes, Modifier/*genetics
Genome-Wide Association Study ; Genotype ; Humans
Czasopismo naukowe
Tytuł :
Hypermorphic and hypomorphic AARS alleles in patients with CMT2N expand clinical and molecular heterogeneities.
Autorzy :
Weterman MAJ; Department of Clinical Genetics, Leiden University Medical Center, Leiden, Netherlands.
Kuo M; Cellular and Molecular Biology Program, University of Michigan Medical School, Ann Arbor, MI, USA.; Medical Scientist Training Program, University of Michigan Medical School, Ann Arbor, MI, USA.
Kenter SB; Department of Clinical Genetics and Genome Analysis, Academic Medical Center, Amsterdam, Netherlands.
Gordillo S; Department of Clinical Genetics and Genome Analysis, Academic Medical Center, Amsterdam, Netherlands.
Karjosukarso DW; Department of Clinical Genetics and Genome Analysis, Academic Medical Center, Amsterdam, Netherlands.
Takase R; Department of Biochemistry and Molecular Biology, Thomas Jefferson University, Philadelphia, USA.
Bronk M; Department of Clinical Genetics and Genome Analysis, Academic Medical Center, Amsterdam, Netherlands.
Oprescu S; Department of Human Genetics, University of Michigan Medical School, Ann Arbor, MI, USA.
van Ruissen F; Department of Clinical Genetics and Genome Analysis, Academic Medical Center, Amsterdam, Netherlands.
Witteveen RJW; Department of Neurology, Alrijne Hospital, Leiden, Netherlands.
Bienfait HME; Department of Neurology, Spaarne Gasthuis, Haarlem, Netherlands.
Breuning M; Department of Clinical Genetics, Leiden University Medical Center, Leiden, Netherlands.
Verhamme C; Department of Neurology, Academic Medical Center, Amsterdam, Netherlands.
Hou YM; Department of Biochemistry and Molecular Biology, Thomas Jefferson University, Philadelphia, USA.
de Visser M; Department of Neurology, Academic Medical Center, Amsterdam, Netherlands.
Antonellis A; Cellular and Molecular Biology Program, University of Michigan Medical School, Ann Arbor, MI, USA.; Department of Human Genetics, University of Michigan Medical School, Ann Arbor, MI, USA.; Department of Neurology, University of Michigan Medical School, Ann Arbor, MI, USA.
Baas F; Department of Clinical Genetics, Leiden University Medical Center, Leiden, Netherlands.
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Źródło :
Human molecular genetics [Hum Mol Genet] 2018 Dec 01; Vol. 27 (23), pp. 4036-4050.
Typ publikacji :
Journal Article; Research Support, N.I.H., Extramural
Journal Info :
Publisher: IRL Press at Oxford University Press Country of Publication: England NLM ID: 9208958 Publication Model: Print Cited Medium: Internet ISSN: 1460-2083 (Electronic) Linking ISSN: 09646906 NLM ISO Abbreviation: Hum. Mol. Genet. Subsets: MEDLINE
MeSH Terms :
Alanine-tRNA Ligase/*genetics
Amino Acyl-tRNA Synthetases/*genetics
Charcot-Marie-Tooth Disease/*genetics
RNA, Transfer/*genetics
Adult ; Alleles ; Amino Acids/genetics ; Animals ; Charcot-Marie-Tooth Disease/pathology ; Female ; Gene Expression Regulation, Enzymologic/genetics ; Genetic Heterogeneity ; Humans ; Male ; Middle Aged ; Mutation/genetics ; Pedigree ; Yeasts/genetics ; Zebrafish/genetics
Czasopismo naukowe
Tytuł :
Pseudodominant inheritance pattern in a family with CMT2 caused by GDAP1 mutations.
Autorzy :
van Paassen BW; Department of Clinical Genetics, University of Amsterdam, Academic Medical Center, Amsterdam, The Netherlands.
Bronk M; Department of Clinical Genetics, University of Amsterdam, Academic Medical Center, Amsterdam, The Netherlands.
Verhamme C; Department of Neurology, University of Amsterdam, Academic Medical Center, Amsterdam, The Netherlands.
van Ruissen F; Department of Clinical Genetics, University of Amsterdam, Academic Medical Center, Amsterdam, The Netherlands.
Baas F; Department of Clinical Genetics, Leiden University Medical Center, Leiden, The Netherlands.
van Spaendonck-Zwarts KY; Department of Clinical Genetics, University of Amsterdam, Academic Medical Center, Amsterdam, The Netherlands.
de Visser M; Department of Neurology, University of Amsterdam, Academic Medical Center, Amsterdam, The Netherlands.
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Źródło :
Journal of the peripheral nervous system : JPNS [J Peripher Nerv Syst] 2017 Dec; Vol. 22 (4), pp. 464-467. Date of Electronic Publication: 2017 Sep 11.
Typ publikacji :
Case Reports
Journal Info :
Publisher: Wiley Country of Publication: United States NLM ID: 9704532 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1529-8027 (Electronic) Linking ISSN: 10859489 NLM ISO Abbreviation: J. Peripher. Nerv. Syst. Subsets: MEDLINE
MeSH Terms :
Inheritance Patterns*
Charcot-Marie-Tooth Disease/*diagnosis
Charcot-Marie-Tooth Disease/*genetics
Nerve Tissue Proteins/*genetics
Adult ; Charcot-Marie-Tooth Disease/pathology ; Charcot-Marie-Tooth Disease/physiopathology ; Genes, Dominant ; Humans ; Middle Aged ; Pedigree
Raport
Tytuł :
LRSAM1-mediated ubiquitylation is disrupted in axonal Charcot-Marie-Tooth disease 2P.
Autorzy :
Hakonen JE; Department of Clinical Genetics, Leiden University Medical Center, Leiden, the Netherlands.; Laboratory of Genome Analysis, Department of Clinical Genetics.; Department of Medical Biochemistry, Academic Medical Center, University of Amsterdam, Meibergdreef 15, 1105AZ, Amsterdam and.
Sorrentino V; Department of Medical Biochemistry, Academic Medical Center, University of Amsterdam, Meibergdreef 15, 1105AZ, Amsterdam and.; Laboratory for integrative and systems physiology, EPFL, CH-1015, Lausanne, Switzerland.
Avagliano Trezza R; Department of Medical Biochemistry, Academic Medical Center, University of Amsterdam, Meibergdreef 15, 1105AZ, Amsterdam and.
de Wissel MB; Laboratory of Genome Analysis, Department of Clinical Genetics.
van den Berg M; Department of Medical Biochemistry, Academic Medical Center, University of Amsterdam, Meibergdreef 15, 1105AZ, Amsterdam and.
Bleijlevens B; Department of Medical Biochemistry, Academic Medical Center, University of Amsterdam, Meibergdreef 15, 1105AZ, Amsterdam and.
van Ruissen F; Laboratory of Genome Analysis, Department of Clinical Genetics.
Distel B; Department of Medical Biochemistry, Academic Medical Center, University of Amsterdam, Meibergdreef 15, 1105AZ, Amsterdam and.
Baas F; Department of Clinical Genetics, Leiden University Medical Center, Leiden, the Netherlands.
Zelcer N; Department of Medical Biochemistry, Academic Medical Center, University of Amsterdam, Meibergdreef 15, 1105AZ, Amsterdam and.
Weterman MAJ; Department of Clinical Genetics, Leiden University Medical Center, Leiden, the Netherlands.
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Źródło :
Human molecular genetics [Hum Mol Genet] 2017 Jun 01; Vol. 26 (11), pp. 2034-2041.
Typ publikacji :
Journal Article; Research Support, Non-U.S. Gov't
Journal Info :
Publisher: IRL Press at Oxford University Press Country of Publication: England NLM ID: 9208958 Publication Model: Print Cited Medium: Internet ISSN: 1460-2083 (Electronic) Linking ISSN: 09646906 NLM ISO Abbreviation: Hum. Mol. Genet. Subsets: MEDLINE
MeSH Terms :
Charcot-Marie-Tooth Disease/*genetics
Ubiquitin-Protein Ligases/*genetics
Axons/metabolism ; Axons/physiology ; Base Sequence ; Charcot-Marie-Tooth Disease/metabolism ; Exons ; Female ; Frameshift Mutation ; Genetic Testing ; Humans ; Male ; Mutation ; Mutation, Missense/genetics ; Netherlands ; Protein Domains ; Ubiquitin-Protein Ligases/metabolism ; Ubiquitination
Czasopismo naukowe
Tytuł :
c-Jun activation in Schwann cells protects against loss of sensory axons in inherited neuropathy.
Autorzy :
Hantke J; 1 Department of Cell and Developmental Biology, University College London (UCL), Gower Street, London WC1E 6BT, UK.
Carty L; 1 Department of Cell and Developmental Biology, University College London (UCL), Gower Street, London WC1E 6BT, UK.
Wagstaff LJ; 1 Department of Cell and Developmental Biology, University College London (UCL), Gower Street, London WC1E 6BT, UK.
Turmaine M; 1 Department of Cell and Developmental Biology, University College London (UCL), Gower Street, London WC1E 6BT, UK.
Wilton DK; 1 Department of Cell and Developmental Biology, University College London (UCL), Gower Street, London WC1E 6BT, UK.
Quintes S; 1 Department of Cell and Developmental Biology, University College London (UCL), Gower Street, London WC1E 6BT, UK.
Koltzenburg M; 2 UCL Institute of Neurology, Queen Square, London WC1N 3BG, UK.
Baas F; 3 Department of Genome Analysis, Academic Medical Centre, Amsterdam, The Netherlands.
Mirsky R; 1 Department of Cell and Developmental Biology, University College London (UCL), Gower Street, London WC1E 6BT, UK.
Jessen KR; 1 Department of Cell and Developmental Biology, University College London (UCL), Gower Street, London WC1E 6BT, UK .
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Źródło :
Brain : a journal of neurology [Brain] 2014 Nov; Vol. 137 (Pt 11), pp. 2922-37. Date of Electronic Publication: 2014 Sep 12.
Typ publikacji :
Journal Article; Research Support, Non-U.S. Gov't
Journal Info :
Publisher: Oxford University Press Country of Publication: England NLM ID: 0372537 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1460-2156 (Electronic) Linking ISSN: 00068950 NLM ISO Abbreviation: Brain Subsets: Core Clinical (AIM); MEDLINE
MeSH Terms :
Axons/*metabolism
Charcot-Marie-Tooth Disease/*metabolism
Demyelinating Diseases/*metabolism
Motor Neurons/*metabolism
Proto-Oncogene Proteins c-jun/*metabolism
Schwann Cells/*metabolism
Animals ; Axons/pathology ; Behavior, Animal/physiology ; Charcot-Marie-Tooth Disease/physiopathology ; Demyelinating Diseases/pathology ; Disease Models, Animal ; Mice ; Mice, Inbred C3H ; Mice, Knockout ; Motor Neurons/pathology
Czasopismo naukowe
Tytuł :
PMP22 related neuropathies: Charcot-Marie-Tooth disease type 1A and Hereditary Neuropathy with liability to Pressure Palsies.
Autorzy :
van Paassen BW; Department of Clinical Genetics, Academic Medical Center, Meibergdreef 9, 1105 AZ, Amsterdam, the Netherlands. .
van der Kooi AJ
van Spaendonck-Zwarts KY
Verhamme C
Baas F
de Visser M
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Źródło :
Orphanet journal of rare diseases [Orphanet J Rare Dis] 2014 Mar 19; Vol. 9, pp. 38. Date of Electronic Publication: 2014 Mar 19.
Typ publikacji :
Journal Article; Research Support, Non-U.S. Gov't; Review
Journal Info :
Publisher: BioMed Central Country of Publication: England NLM ID: 101266602 Publication Model: Electronic Cited Medium: Internet ISSN: 1750-1172 (Electronic) Linking ISSN: 17501172 NLM ISO Abbreviation: Orphanet J Rare Dis Subsets: MEDLINE
MeSH Terms :
Genetic Predisposition to Disease*
Arthrogryposis/*genetics
Charcot-Marie-Tooth Disease/*genetics
Hereditary Sensory and Motor Neuropathy/*genetics
Myelin Proteins/*genetics
Arthrogryposis/diagnosis ; Arthrogryposis/therapy ; Charcot-Marie-Tooth Disease/therapy ; Genetic Counseling ; Hereditary Sensory and Motor Neuropathy/diagnosis ; Hereditary Sensory and Motor Neuropathy/therapy ; Humans ; Point Mutation ; Prognosis
SCR Disease Name :
Tomaculous neuropathy
Czasopismo naukowe
Tytuł :
The phenotype of the Gly94fsX222 PMP22 insertion.
Autorzy :
de Vries SD; Department of Neurology, Academic Medical Centre, University of Amsterdam, Amsterdam, The Netherlands.
Verhamme C
van Ruissen F
van Paassen BW
Arts WF
Kerkhoff H
van Engelen BG
Lammens M
de Visser M
Baas F
van der Kooi AJ
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Źródło :
Journal of the peripheral nervous system : JPNS [J Peripher Nerv Syst] 2011 Jun; Vol. 16 (2), pp. 113-8.
Typ publikacji :
Journal Article
Journal Info :
Publisher: Wiley Country of Publication: United States NLM ID: 9704532 Publication Model: Print Cited Medium: Internet ISSN: 1529-8027 (Electronic) Linking ISSN: 10859489 NLM ISO Abbreviation: J. Peripher. Nerv. Syst. Subsets: MEDLINE
MeSH Terms :
Arthrogryposis/*genetics
Arthrogryposis/*physiopathology
Charcot-Marie-Tooth Disease/*genetics
Charcot-Marie-Tooth Disease/*physiopathology
Hereditary Sensory and Motor Neuropathy/*genetics
Hereditary Sensory and Motor Neuropathy/*physiopathology
Myelin Proteins/*genetics
Adolescent ; Adult ; Arthrogryposis/pathology ; Charcot-Marie-Tooth Disease/pathology ; Child ; Electrophysiology ; Female ; Hereditary Sensory and Motor Neuropathy/pathology ; Humans ; Male ; Mutation, Missense ; Phenotype ; Point Mutation ; Young Adult
SCR Disease Name :
Tomaculous neuropathy
Czasopismo naukowe
Tytuł :
Mechanisms for nonrecurrent genomic rearrangements associated with CMT1A or HNPP: rare CNVs as a cause for missing heritability.
Autorzy :
Zhang F; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA.
Seeman P
Liu P
Weterman MA
Gonzaga-Jauregui C
Towne CF
Batish SD
De Vriendt E
De Jonghe P
Rautenstrauss B
Krause KH
Khajavi M
Posadka J
Vandenberghe A
Palau F
Van Maldergem L
Baas F
Timmerman V
Lupski JR
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Źródło :
American journal of human genetics [Am J Hum Genet] 2010 Jun 11; Vol. 86 (6), pp. 892-903. Date of Electronic Publication: 2010 May 20.
Typ publikacji :
Journal Article; Research Support, N.I.H., Extramural; Research Support, Non-U.S. Gov't
Journal Info :
Publisher: University of Chicago Press Country of Publication: United States NLM ID: 0370475 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1537-6605 (Electronic) Linking ISSN: 00029297 NLM ISO Abbreviation: Am. J. Hum. Genet. Subsets: MEDLINE
MeSH Terms :
Chromosomes, Human, Pair 17*
DNA Copy Number Variations*
Translocation, Genetic*
Charcot-Marie-Tooth Disease/*genetics
Myelin Proteins/*genetics
Paralysis/*genetics
Comparative Genomic Hybridization ; Gene Deletion ; Gene Duplication ; Hereditary Sensory and Motor Neuropathy ; Humans
Czasopismo naukowe
Tytuł :
Copy number variation upstream of PMP22 in Charcot-Marie-Tooth disease.
Autorzy :
Weterman MA; Neurogenetics Lab, Department of Neurogenetics K2-213, Academic Medical Center Amsterdam, Meibergdreef 9, 1105 AZ Amsterdam, The Netherlands. />van Ruissen F
de Wissel M
Bordewijk L
Samijn JP
van der Pol WL
Meggouh F
Baas F
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Źródło :
European journal of human genetics : EJHG [Eur J Hum Genet] 2010 Apr; Vol. 18 (4), pp. 421-8. Date of Electronic Publication: 2009 Nov 04.
Typ publikacji :
Journal Article; Research Support, Non-U.S. Gov't
Journal Info :
Publisher: Nature Publishing Group Country of Publication: England NLM ID: 9302235 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1476-5438 (Electronic) Linking ISSN: 10184813 NLM ISO Abbreviation: Eur. J. Hum. Genet. Subsets: MEDLINE
MeSH Terms :
Charcot-Marie-Tooth Disease/*genetics
Gene Dosage/*genetics
Genetic Variation/*genetics
Microtubule Proteins/*genetics
Myelin Proteins/*metabolism
Adult ; Blotting, Southern ; Chromosome Segregation ; Comparative Genomic Hybridization ; Female ; Gene Duplication ; Haplotypes ; Humans ; Male ; Middle Aged ; Mutation/genetics ; Myelin Proteins/genetics ; Oligonucleotide Array Sequence Analysis ; Pedigree ; Phenotype ; Polymerase Chain Reaction ; Young Adult
Czasopismo naukowe
Tytuł :
Oral high dose ascorbic acid treatment for one year in young CMT1A patients: a randomised, double-blind, placebo-controlled phase II trial.
Autorzy :
Verhamme C; Department of Neurology and Clinical Neurophysiology, Academic Medical Centre, University of Amsterdam, PO Box 22660, 1100 DD, Amsterdam, The Netherlands. />de Haan RJ
Vermeulen M
Baas F
de Visser M
van Schaik IN
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Źródło :
BMC medicine [BMC Med] 2009 Nov 12; Vol. 7, pp. 70. Date of Electronic Publication: 2009 Nov 12.
Typ publikacji :
Clinical Trial, Phase II; Journal Article; Randomized Controlled Trial; Research Support, Non-U.S. Gov't
Journal Info :
Publisher: BioMed Central Country of Publication: England NLM ID: 101190723 Publication Model: Electronic Cited Medium: Internet ISSN: 1741-7015 (Electronic) Linking ISSN: 17417015 NLM ISO Abbreviation: BMC Med Subsets: MEDLINE
MeSH Terms :
Ascorbic Acid/*adverse effects
Ascorbic Acid/*therapeutic use
Charcot-Marie-Tooth Disease/*drug therapy
Vitamins/*adverse effects
Vitamins/*therapeutic use
Administration, Oral ; Adolescent ; Ascorbic Acid/administration & dosage ; Double-Blind Method ; Female ; Humans ; Male ; Median Nerve/physiology ; Muscle Strength/drug effects ; Neural Conduction/physiology ; Placebos/administration & dosage ; Sensation/physiology ; Severity of Illness Index ; Treatment Outcome ; Vitamins/administration & dosage ; Young Adult
Czasopismo naukowe
Tytuł :
Ciliary neurotrophic factor null alleles are not a risk factor for Charcot-Marie-Tooth disease, hereditary neuropathy with pressure palsies and amyotrophic lateral sclerosis.
Autorzy :
Van Vught PW; Rudolf Magnus Institute of Neuroscience, Department of Neurology, University Medical Center Utrecht, Utrecht, The Netherlands.
Van Wijk J
Bradley TE
Plasmans D
Jakobs ME
Veldink JH
de Jong JM
Van den Berg LH
Baas F
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Źródło :
Neuromuscular disorders : NMD [Neuromuscul Disord] 2007 Dec; Vol. 17 (11-12), pp. 964-7. Date of Electronic Publication: 2007 Jul 24.
Typ publikacji :
Journal Article; Research Support, Non-U.S. Gov't
Journal Info :
Publisher: Pergamon Press Country of Publication: England NLM ID: 9111470 Publication Model: Print-Electronic Cited Medium: Print ISSN: 0960-8966 (Print) Linking ISSN: 09608966 NLM ISO Abbreviation: Neuromuscul. Disord. Subsets: MEDLINE
MeSH Terms :
Amyotrophic Lateral Sclerosis/*genetics
Charcot-Marie-Tooth Disease/*genetics
Ciliary Neurotrophic Factor/*genetics
Genetic Predisposition to Disease/*genetics
Mutation/*genetics
Peripheral Nervous System Diseases/*genetics
Adult ; Age of Onset ; Aged ; Aged, 80 and over ; Alleles ; Charcot-Marie-Tooth Disease/metabolism ; Charcot-Marie-Tooth Disease/physiopathology ; DNA Mutational Analysis ; Disease Progression ; Female ; Genetic Testing ; Genotype ; Humans ; Male ; Middle Aged ; Netherlands ; Peripheral Nervous System Diseases/metabolism ; Peripheral Nervous System Diseases/physiopathology ; Phenotype ; Polymorphism, Genetic/genetics
Czasopismo naukowe
Tytuł :
Phenotype of Charcot-Marie-Tooth disease Type 2.
Autorzy :
Bienfait HM; Department of Neurology, Academic Medical Centre, University of Amsterdam, The Netherlands.
Baas F
Koelman JH
de Haan RJ
van Engelen BG
Gabreëls-Festen AA
Ongerboer de Visser BW
Meggouh F
Weterman MA
De Jonghe P
Timmerman V
de Visser M
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Źródło :
Neurology [Neurology] 2007 May 15; Vol. 68 (20), pp. 1658-67.
Typ publikacji :
Journal Article; Research Support, Non-U.S. Gov't
Journal Info :
Publisher: Lippincott Williams & Wilkins Country of Publication: United States NLM ID: 0401060 Publication Model: Print Cited Medium: Internet ISSN: 1526-632X (Electronic) Linking ISSN: 00283878 NLM ISO Abbreviation: Neurology Subsets: Core Clinical (AIM); MEDLINE
MeSH Terms :
Genetic Heterogeneity*
Neural Conduction*
Charcot-Marie-Tooth Disease/*genetics
GTP-Binding Protein gamma Subunits/*genetics
Membrane Proteins/*genetics
Mitochondrial Proteins/*genetics
Nerve Tissue Proteins/*genetics
rab GTP-Binding Proteins/*genetics
Action Potentials ; Adolescent ; Adult ; Age of Onset ; Aged ; Axons/physiology ; Charcot-Marie-Tooth Disease/classification ; Charcot-Marie-Tooth Disease/diagnosis ; Charcot-Marie-Tooth Disease/epidemiology ; Charcot-Marie-Tooth Disease/physiopathology ; Child ; Child, Preschool ; DNA Mutational Analysis ; Demyelinating Diseases ; Electromyography ; Female ; GTP Phosphohydrolases ; GTP-Binding Protein gamma Subunits/physiology ; Genotype ; Humans ; Hypesthesia/etiology ; Infant ; Male ; Membrane Proteins/physiology ; Middle Aged ; Mitochondrial Proteins/physiology ; Muscle Weakness/etiology ; Muscular Atrophy/etiology ; Mutation ; Nerve Tissue Proteins/physiology ; Netherlands/epidemiology ; Neurologic Examination ; Peripheral Nerves/physiopathology ; Phenotype ; Reflex, Abnormal ; Retrospective Studies ; Severity of Illness Index ; Walking ; rab GTP-Binding Proteins/physiology
Czasopismo naukowe
Tytuł :
Comparison of CMT1A and CMT2: similarities and differences.
Autorzy :
Bienfait HM; Department of Neurology, H2-222, Academic Medical Center, University of Amsterdam, PO box 22660, 1100, DE, Amsterdam, The Netherlands.
Verhamme C
van Schaik IN
Koelman JH
de Visser BW
de Haan RJ
Baas F
van Engelen BG
de Visser M
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Źródło :
Journal of neurology [J Neurol] 2006 Dec; Vol. 253 (12), pp. 1572-80. Date of Electronic Publication: 2006 Aug 28.
Typ publikacji :
Comparative Study; Evaluation Study; Journal Article; Research Support, Non-U.S. Gov't
Journal Info :
Publisher: Springer-Verlag Country of Publication: Germany NLM ID: 0423161 Publication Model: Print-Electronic Cited Medium: Print ISSN: 0340-5354 (Print) Linking ISSN: 03405354 NLM ISO Abbreviation: J. Neurol. Subsets: MEDLINE
MeSH Terms :
Charcot-Marie-Tooth Disease/*classification
Charcot-Marie-Tooth Disease/*physiopathology
Action Potentials/physiology ; Adolescent ; Adult ; Age of Onset ; Aged ; Charcot-Marie-Tooth Disease/genetics ; Charcot-Marie-Tooth Disease/pathology ; Child ; Female ; Humans ; Male ; Median Nerve/physiopathology ; Middle Aged ; Neural Conduction/physiology ; Statistics, Nonparametric
Czasopismo naukowe
Tytuł :
Charcot-Marie-Tooth disease due to a de novo mutation of the RAB7 gene.
Autorzy :
Meggouh F; Neurogenetics Department, AMC, Meibergdreef 9, 1105 AZ Amsterdam, The Netherlands.
Bienfait HM
Weterman MA
de Visser M
Baas F
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Źródło :
Neurology [Neurology] 2006 Oct 24; Vol. 67 (8), pp. 1476-8.
Typ publikacji :
Case Reports; Journal Article; Research Support, Non-U.S. Gov't
Journal Info :
Publisher: Lippincott Williams & Wilkins Country of Publication: United States NLM ID: 0401060 Publication Model: Print Cited Medium: Internet ISSN: 1526-632X (Electronic) Linking ISSN: 00283878 NLM ISO Abbreviation: Neurology Subsets: Core Clinical (AIM); MEDLINE
MeSH Terms :
Mutation, Missense*
Charcot-Marie-Tooth Disease/*genetics
rab GTP-Binding Proteins/*genetics
Acyltransferases/genetics ; Adult ; Asparagine ; Charcot-Marie-Tooth Disease/complications ; Cytosine ; Foot Ulcer/etiology ; Genetic Variation ; Guanine ; Heterozygote ; Humans ; Lysine ; Male ; Pedigree ; Serine C-Palmitoyltransferase
Czasopismo naukowe
Tytuł :
Late onset axonal Charcot-Marie-Tooth phenotype caused by a novel myelin protein zero mutation.
Autorzy :
Bienfait HM; Department of Neurology, Academic Medical Centre, University of Amsterdam, The Netherlands.
Faber CG
Baas F
Gabreëls-Festen AA
Koelman JH
Hoogendijk JE
Verschuuren JJ
Wokke JH
de Visser M
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Źródło :
Journal of neurology, neurosurgery, and psychiatry [J Neurol Neurosurg Psychiatry] 2006 Apr; Vol. 77 (4), pp. 534-7.
Typ publikacji :
Journal Article; Research Support, Non-U.S. Gov't
Journal Info :
Publisher: BMJ Publishing Group Country of Publication: England NLM ID: 2985191R Publication Model: Print Cited Medium: Print ISSN: 0022-3050 (Print) Linking ISSN: 00223050 NLM ISO Abbreviation: J. Neurol. Neurosurg. Psychiatry Subsets: MEDLINE
MeSH Terms :
Axons/*pathology
Charcot-Marie-Tooth Disease/*genetics
Charcot-Marie-Tooth Disease/*pathology
Intracellular Signaling Peptides and Proteins/*genetics
Myelin P0 Protein/*genetics
Phosphoproteins/*genetics
Adult ; Age of Onset ; Aged ; Biopsy ; Charcot-Marie-Tooth Disease/epidemiology ; Cohort Studies ; Connexins/genetics ; DNA Mutational Analysis ; Demyelinating Diseases/pathology ; Female ; Humans ; Male ; Median Nerve/physiopathology ; Middle Aged ; Myelin Proteins/genetics ; Neural Conduction/physiology ; Pedigree ; Phenotype ; Point Mutation ; Polymorphism, Single-Stranded Conformational ; Sural Nerve/pathology ; Sural Nerve/physiopathology ; Ulnar Nerve/physiopathology
Czasopismo naukowe
Tytuł :
Axonal neuropathy with optic atrophy is caused by mutations in mitofusin 2.
Autorzy :
Züchner S; Center for Human Genetics, Duke University Medical Center, Durham, NC 27710, USA. />De Jonghe P
Jordanova A
Claeys KG
Guergueltcheva V
Cherninkova S
Hamilton SR
Van Stavern G
Krajewski KM
Stajich J
Tournev I
Verhoeven K
Langerhorst CT
de Visser M
Baas F
Bird T
Timmerman V
Shy M
Vance JM
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Źródło :
Annals of neurology [Ann Neurol] 2006 Feb; Vol. 59 (2), pp. 276-81.
Typ publikacji :
Comparative Study; Journal Article; Research Support, N.I.H., Extramural; Research Support, Non-U.S. Gov't
Journal Info :
Publisher: Wiley-Liss Country of Publication: United States NLM ID: 7707449 Publication Model: Print Cited Medium: Print ISSN: 0364-5134 (Print) Linking ISSN: 03645134 NLM ISO Abbreviation: Ann. Neurol. Subsets: MEDLINE
MeSH Terms :
Mutation*
Charcot-Marie-Tooth Disease/*genetics
Genetic Predisposition to Disease/*genetics
Membrane Proteins/*genetics
Mitochondrial Proteins/*genetics
Optic Atrophy/*genetics
Adolescent ; Adult ; Age of Onset ; Charcot-Marie-Tooth Disease/complications ; Charcot-Marie-Tooth Disease/pathology ; Child ; DNA Mutational Analysis/methods ; Family Health ; GTP Phosphohydrolases ; Humans ; Middle Aged ; Models, Biological ; Neural Conduction/physiology ; Optic Atrophy/etiology ; Optic Atrophy/pathology ; Pedigree ; Visual Acuity/physiology
Czasopismo naukowe
Tytuł :
[From gene to disease; Charcot-Marie-Tooth disease or the hereditary motor and sensory neuropathies].
Transliterated Title :
Van gen naar ziekte; de ziekte van Charcot-Marie-Tooth ofwel de hereditaire motorische en sensorische neuropathieën.
Autorzy :
Verhamme C; Afd. Neurologie, Academisch Medisch Centrum/Universiteit van Amsterdam, Postbus 22.660, 1100 DD Amsterdam.
Baas F
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Źródło :
Nederlands tijdschrift voor geneeskunde [Ned Tijdschr Geneeskd] 2005 Jul 02; Vol. 149 (27), pp. 1505-9.
Typ publikacji :
English Abstract; Journal Article; Research Support, Non-U.S. Gov't; Review
Journal Info :
Publisher: Vereniging NTvG Country of Publication: Netherlands NLM ID: 0400770 Publication Model: Print Cited Medium: Print ISSN: 0028-2162 (Print) Linking ISSN: 00282162 NLM ISO Abbreviation: Ned Tijdschr Geneeskd Subsets: MEDLINE
MeSH Terms :
Genetic Linkage*
Charcot-Marie-Tooth Disease/*genetics
Peripheral Nervous System Diseases/*genetics
Charcot-Marie-Tooth Disease/pathology ; Demyelinating Diseases/genetics ; Demyelinating Diseases/pathology ; Hereditary Sensory and Autonomic Neuropathies/genetics ; Hereditary Sensory and Autonomic Neuropathies/pathology ; Humans ; Peripheral Nervous System Diseases/pathology
Czasopismo naukowe
Tytuł :
Early onset neuropathy in a compound form of Charcot-Marie-Tooth disease.
Autorzy :
Meggouh F; Neurogenetics Laboratory, Academic Medical Center, Amsterdam, The Netherlands.
de Visser M
Arts WF
De Coo RI
van Schaik IN
Baas F
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Źródło :
Annals of neurology [Ann Neurol] 2005 Apr; Vol. 57 (4), pp. 589-91.
Typ publikacji :
Case Reports; Journal Article
Journal Info :
Publisher: Wiley-Liss Country of Publication: United States NLM ID: 7707449 Publication Model: Print Cited Medium: Print ISSN: 0364-5134 (Print) Linking ISSN: 03645134 NLM ISO Abbreviation: Ann. Neurol. Subsets: MEDLINE
MeSH Terms :
Charcot-Marie-Tooth Disease/*genetics
Myelin Proteins/*genetics
Nuclear Proteins/*genetics
Transcription Factors/*genetics
Blotting, Southern ; Charcot-Marie-Tooth Disease/pathology ; Child, Preschool ; DNA Mutational Analysis ; Female ; Gene Duplication ; Genotype ; Humans ; Male ; Mutation ; Pedigree ; Phenotype
Czasopismo naukowe
Tytuł :
Expression profiling of sciatic nerve in a Charcot-Marie-Tooth disease type 1a mouse model.
Autorzy :
ten Asbroek AL; Neurogenetics Laboratory, Academic Medical Center, Amsterdam, The Netherlands. />Verhamme C
van Groenigen M
Wolterman R
de Kok-Nazaruk MM
Baas F
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Źródło :
Journal of neuroscience research [J Neurosci Res] 2005 Mar 15; Vol. 79 (6), pp. 825-35.
Typ publikacji :
Comparative Study; Journal Article
Journal Info :
Publisher: Wiley Interscience Country of Publication: United States NLM ID: 7600111 Publication Model: Print Cited Medium: Print ISSN: 0360-4012 (Print) Linking ISSN: 03604012 NLM ISO Abbreviation: J. Neurosci. Res. Subsets: MEDLINE
MeSH Terms :
Charcot-Marie-Tooth Disease/*metabolism
Gene Expression Regulation/*physiology
Sciatic Nerve/*metabolism
Animals ; Blotting, Northern/methods ; Blotting, Western/methods ; Ciliary Neurotrophic Factor/genetics ; Ciliary Neurotrophic Factor/metabolism ; Connexins/genetics ; Connexins/metabolism ; Disease Models, Animal ; Gene Expression Regulation/genetics ; Intracellular Signaling Peptides and Proteins/genetics ; Intracellular Signaling Peptides and Proteins/metabolism ; Mice ; Mice, Inbred C57BL ; Mice, Transgenic ; Myelin Proteins/genetics ; Myelin Proteins/metabolism ; Myelin Proteolipid Protein/genetics ; Myelin Proteolipid Protein/metabolism ; Nerve Growth Factors ; Nerve Tissue Proteins/genetics ; Nerve Tissue Proteins/metabolism ; RNA, Messenger/metabolism ; Reverse Transcriptase Polymerase Chain Reaction/methods ; S100 Calcium Binding Protein beta Subunit ; S100 Proteins/genetics ; S100 Proteins/metabolism ; Sciatic Nerve/pathology
Czasopismo naukowe

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