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  1. Book: Neuromuscular junction disorders

    Engel, Andrew G.

    (Handbook of clinical neurology ; 91 = 3. ser., vol. [13])

    2008  

    Author's details vol. ed. Andrew G. Engel
    Series title Handbook of clinical neurology ; 91 = 3. ser., vol. [13]
    Collection
    Keywords Neuromuscular Junction Diseases / diagnosis ; Neuromuscular Junction Diseases / therapy
    Language English
    Size XIV, 451 S. : Ill., graph. Darst.
    Publisher Elsevier
    Publishing place Edinburgh u.a.
    Publishing country Great Britain
    Document type Book
    HBZ-ID HT015641028
    ISBN 0-444-52008-2 ; 978-0-444-52008-1
    Database Catalogue ZB MED Medicine, Health

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    In stock of ZB MED Cologne/Königswinter

    Shelf markLoan statusLocation
    2009 A 9517 order for loan Magazin

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  2. Book: Myology / 1

    Engel, Andrew G.

    basic and clinical

    2004  

    Author's details Andrew G. Engel
    Collection Myology
    Keywords Muskelkrankheit ; Neuromuskuläre Krankheit ; Muskel ; Biochemie ; Physiologie ; Anatomie
    Subject Humanphysiologie ; Mensch ; Körperfunktion ; Biologische Chemie ; Neuromyopathie ; Neuromuscular disease ; Muskeln ; Tiere ; Tieranatomie ; Kunst der Zergliederung ; Zergliederungskunst ; Myopathie ; Muskelerkrankung
    Language English
    Size XXIV, 958, I-46 S. : Ill., graph. Darst.
    Edition 3. ed.
    Publisher McGraw-Hill
    Publishing place New York u.a.
    Publishing country United States
    Document type Book
    HBZ-ID HT014058557
    ISBN 0-07-137181-8 ; 0-07-137180-X ; 978-0-07-137181-0 ; 978-0-07-137180-3
    Database Catalogue ZB MED Medicine, Health

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    In stock of ZB MED Cologne/Königswinter

    Shelf markLoan statusLocation
    2004 A 8697 order for loan Magazin
    2005 A 768 order for loan Magazin

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  3. Book: Myology / 2

    Engel, Andrew G.

    basic and clinical

    2004  

    Author's details Andrew G. Engel
    Collection Myology
    Keywords Muskelkrankheit ; Neuromuskuläre Krankheit ; Muskel ; Biochemie ; Physiologie ; Anatomie
    Subject Muskeln ; Mensch ; Tiere ; Tieranatomie ; Kunst der Zergliederung ; Zergliederungskunst ; Humanphysiologie ; Körperfunktion ; Biologische Chemie ; Neuromyopathie ; Neuromuscular disease ; Myopathie ; Muskelerkrankung
    Language English
    Size XXIV S., S. 961 - 1960, I-46 S. : Ill., graph. Darst.
    Edition 3. ed.
    Publisher McGraw-Hill
    Publishing place New York u.a.
    Publishing country United States
    Document type Book
    HBZ-ID HT014058612
    ISBN 0-07-137182-6 ; 0-07-137180-X ; 978-0-07-137182-7 ; 978-0-07-137180-3
    Database Catalogue ZB MED Medicine, Health

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    In stock of ZB MED Cologne/Königswinter

    Shelf markLoan statusLocation
    2004 A 8698 order for loan Magazin
    2005 A 769 order for loan Magazin

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  4. Article ; Online: Correction to: The Therapy of Congenital Myasthenic Syndromes.

    Engel, Andrew G

    Neurotherapeutics : the journal of the American Society for Experimental NeuroTherapeutics

    2018  Volume 16, Issue 1, Page(s) 244

    Abstract: The third paragraph in the left column of page 256 of the article pertaining to the treatment of congenital choline acetyl transferase (ChAT) deficiency states that "Because apneic attacks occur suddenly in infants and children, the parents should be ... ...

    Abstract The third paragraph in the left column of page 256 of the article pertaining to the treatment of congenital choline acetyl transferase (ChAT) deficiency states that "Because apneic attacks occur suddenly in infants and children, the parents should be provided with an inflatable rescue bag."
    Language English
    Publishing date 2018-11-01
    Publishing country United States
    Document type Journal Article ; Published Erratum
    ZDB-ID 2316693-9
    ISSN 1878-7479 ; 1933-7213
    ISSN (online) 1878-7479
    ISSN 1933-7213
    DOI 10.1007/s13311-018-00672-6
    Database MEDical Literature Analysis and Retrieval System OnLINE

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    In stock of ZB MED Cologne/Königswinter

    Zs.A 6156: Show issues Location:
    Je nach Verfügbarkeit (siehe Angabe bei Bestand)
    bis Jg. 2021: Bestellungen von Artikeln über das Online-Bestellformular
    ab Jg. 2022: Lesesaal (EG)

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  5. Article ; Online: Congenital Myasthenic Syndromes in 2018.

    Engel, Andrew G

    Current neurology and neuroscience reports

    2018  Volume 18, Issue 8, Page(s) 46

    Abstract: Purpose of review: Summarize features of the currently recognized congenital myasthenic syndromes (CMS) with emphasis on novel findings identified in the past 6 years.: Recent findings: Since the last review of the CMS in this journal in 2012, ... ...

    Abstract Purpose of review: Summarize features of the currently recognized congenital myasthenic syndromes (CMS) with emphasis on novel findings identified in the past 6 years.
    Recent findings: Since the last review of the CMS in this journal in 2012, several novel CMS were identified. The identified disease proteins are SNAP25B, synaptotagmin 2, Munc13-1, synaptobrevin-1, GFPT1, DPAGT1, ALG2, ALG14, Agrin, GMPPB, LRP4, myosin 9A, collagen 13A1, the mitochondrial citrate carrier, PREPL, LAMA5, the vesicular ACh transporter, and the high-affinity presynaptic choline transporter. Exome sequencing has provided a powerful tool for identifying novel CMS. Identifying the disease genes is essential for determining optimal therapy. The landscape of the CMS is still unfolding.
    MeSH term(s) Humans ; Mutation/genetics ; Myasthenic Syndromes, Congenital/classification ; Myasthenic Syndromes, Congenital/diagnosis ; Myasthenic Syndromes, Congenital/genetics ; Myasthenic Syndromes, Congenital/physiopathology ; Neuromuscular Junction/physiopathology
    Language English
    Publishing date 2018-06-12
    Publishing country United States
    Document type Journal Article ; Research Support, N.I.H., Extramural ; Review
    ZDB-ID 2057363-7
    ISSN 1534-6293 ; 1528-4042
    ISSN (online) 1534-6293
    ISSN 1528-4042
    DOI 10.1007/s11910-018-0852-4
    Database MEDical Literature Analysis and Retrieval System OnLINE

    Full text online

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    In stock of ZB MED Cologne/Königswinter

    Zs.A 5549: Show issues Location:
    Je nach Verfügbarkeit (siehe Angabe bei Bestand)
    bis Jg. 1994: Bestellungen von Artikeln über das Online-Bestellformular
    Jg. 1995 - 2021: Lesesall (2.OG)
    ab Jg. 2022: Lesesaal (EG)

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  6. Article: Genetic basis and phenotypic features of congenital myasthenic syndromes.

    Engel, Andrew G

    Handbook of clinical neurology

    2018  Volume 148, Page(s) 565–589

    Abstract: The congenital myasthenic syndromes (CMS) are heterogeneous disorders in which the safety margin of neuromuscular transmission is compromised by one or more specific mechanisms. The disease proteins reside in the nerve terminal, the synaptic basal lamina, ...

    Abstract The congenital myasthenic syndromes (CMS) are heterogeneous disorders in which the safety margin of neuromuscular transmission is compromised by one or more specific mechanisms. The disease proteins reside in the nerve terminal, the synaptic basal lamina, or in the postsynaptic region, or at multiple sites at the neuromuscular junction as well as in other tissues. Targeted mutation analysis by Sanger or exome sequencing has been facilitated by characteristic phenotypic features of some CMS. No fewer than 20 disease genes have been recognized to date. In one-half of the currently identified probands, the disease stems from mutations in genes encoding subunits of the muscle form of the acetylcholine receptor (CHRNA1, CHRNB, CHRNAD1, and CHRNE). In 10-14% of the probands the disease is caused by mutations in RAPSN, DOK 7, or COLQ, and in 5% by mutations in CHAT. Other less frequently identified disease genes include LAMB2, AGRN, LRP4, MUSK, GFPT1, DPAGT1, ALG2, and ALG 14 as well as SCN4A, PREPL, PLEC1, DNM2, and MTM1. Identification of the genetic basis of each CMS is important not only for genetic counseling and disease prevention but also for therapy, because therapeutic agents that benefit one type of CMS can be harmful in another.
    MeSH term(s) Humans ; Myasthenic Syndromes, Congenital/genetics ; Myasthenic Syndromes, Congenital/physiopathology ; Nerve Tissue Proteins/genetics ; Phenotype ; Receptors, Cholinergic/genetics
    Chemical Substances Nerve Tissue Proteins ; Receptors, Cholinergic
    Language English
    Publishing date 2018
    Publishing country Netherlands
    Document type Journal Article ; Review
    ISSN 0072-9752
    ISSN 0072-9752
    DOI 10.1016/B978-0-444-64076-5.00037-5
    Database MEDical Literature Analysis and Retrieval System OnLINE

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  7. Book: Myasthenia gravis and myasthenic disorders

    Engel, Andrew G.

    (Contemporary neurology series ; 56)

    1999  

    Author's details ed. by Andrew G. Engel
    Series title Contemporary neurology series ; 56
    Collection
    Keywords Myasthenia Gravis ; Neuromuscular Diseases
    Language English
    Size XX, 310 S. : Ill., graph. Darst.
    Publisher Oxford Univ. Press
    Publishing place New York u.a.
    Publishing country United States
    Document type Book
    HBZ-ID HT011212479
    ISBN 0-19-512970-9 ; 978-0-19-512970-0
    Database Catalogue ZB MED Medicine, Health

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    In stock of ZB MED Cologne/Königswinter

    Shelf markLoan statusLocation
    2000 A 478 order for loan Magazin

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  8. Article ; Online: Clinical and Pathologic Features of Congenital Myasthenic Syndromes Caused by 35 Genes-A Comprehensive Review.

    Ohno, Kinji / Ohkawara, Bisei / Shen, Xin-Ming / Selcen, Duygu / Engel, Andrew G

    International journal of molecular sciences

    2023  Volume 24, Issue 4

    Abstract: Congenital myasthenic syndromes (CMS) are a heterogeneous group of disorders characterized by impaired neuromuscular signal transmission due to germline pathogenic variants in genes expressed at the neuromuscular junction (NMJ). A total of 35 genes have ... ...

    Abstract Congenital myasthenic syndromes (CMS) are a heterogeneous group of disorders characterized by impaired neuromuscular signal transmission due to germline pathogenic variants in genes expressed at the neuromuscular junction (NMJ). A total of 35 genes have been reported in CMS (
    MeSH term(s) Humans ; Albuterol ; Amifampridine ; Cholinesterase Inhibitors ; Mitochondrial Proteins/genetics ; Mutation ; Myasthenic Syndromes, Congenital/genetics ; Myasthenic Syndromes, Congenital/pathology ; NAV1.4 Voltage-Gated Sodium Channel/genetics ; Neuromuscular Junction/pathology ; Receptors, Cholinergic/genetics ; Symporters/genetics ; Synaptic Transmission
    Chemical Substances Albuterol (QF8SVZ843E) ; Amifampridine (RU4S6E2G0J) ; Cholinesterase Inhibitors ; CHRND protein, human ; Mitochondrial Proteins ; MYO9A protein, human ; NAV1.4 Voltage-Gated Sodium Channel ; Receptors, Cholinergic ; SCN4A protein, human ; Slc25a1 protein, human ; SLC5A7 protein, human ; Symporters
    Language English
    Publishing date 2023-02-13
    Publishing country Switzerland
    Document type Journal Article ; Review
    ZDB-ID 2019364-6
    ISSN 1422-0067 ; 1422-0067 ; 1661-6596
    ISSN (online) 1422-0067
    ISSN 1422-0067 ; 1661-6596
    DOI 10.3390/ijms24043730
    Database MEDical Literature Analysis and Retrieval System OnLINE

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  9. Book: Myology / 1

    Engel, Andrew G.

    basic and clinical

    1994  

    Author's details Andrew G. Engel
    Collection Myology
    Keywords Muskelkrankheit ; Neuromuskuläre Krankheit ; Muskel ; Biochemie ; Physiologie ; Anatomie
    Subject Muskeln ; Neuromyopathie ; Neuromuscular disease ; Myopathie ; Muskelerkrankung ; Mensch ; Tiere ; Tieranatomie ; Kunst der Zergliederung ; Zergliederungskunst ; Humanphysiologie ; Körperfunktion ; Biologische Chemie
    Language English
    Size XXI, 1129, I-44 S. : Ill., graph. Darst.
    Edition 2. ed.
    Publisher McGraw-Hill
    Publishing place New York u.a.
    Publishing country United States
    Document type Book
    HBZ-ID HT006313865
    ISBN 0-07-019558-7 ; 0-07-911134-3 ; 978-0-07-019558-5 ; 978-0-07-911134-0
    Database Catalogue ZB MED Medicine, Health

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    In stock of ZB MED Cologne/Königswinter

    Shelf markLoan statusLocation
    1994 A 5194 -1- order for loan Magazin

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  10. Book: Myology / 2

    Engel, Andrew G.

    basic and clinical

    1994  

    Author's details Andrew G. Engel
    Collection Myology
    Keywords Muskelkrankheit ; Neuromuskuläre Krankheit ; Muskel ; Biochemie ; Physiologie ; Anatomie
    Subject Muskeln ; Mensch ; Tiere ; Tieranatomie ; Kunst der Zergliederung ; Zergliederungskunst ; Humanphysiologie ; Körperfunktion ; Biologische Chemie ; Neuromyopathie ; Neuromuscular disease ; Myopathie ; Muskelerkrankung
    Language English
    Size XXI S., S. 1133 - 1937, I-44 S. : Ill., graph. Darst.
    Edition 2. ed.
    Publisher McGraw-Hill
    Publishing place New York u.a.
    Publishing country United States
    Document type Book
    HBZ-ID HT006313860
    ISBN 0-07-019559-5 ; 0-07-911134-3 ; 978-0-07-019559-2 ; 978-0-07-911134-0
    Database Catalogue ZB MED Medicine, Health

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    In stock of ZB MED Cologne/Königswinter

    Shelf markLoan statusLocation
    1994 A 5194 -2- order for loan Magazin

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