يعرض 1 - 10 نتائج من 26 نتيجة بحث عن '"P, De Jonghe"', وقت الاستعلام: 1.08s تنقيح النتائج
  1. 1
    دورية أكاديمية
    A homozygous FITM2 mutation causes a deafness-dystonia syndrome with motor regression and signs of ichthyosis and sensory neuropathy

    المؤلفون: Celia Zazo Seco, Anna Castells-Nobau, Seol-hee Joo, Margit Schraders, Jia Nee Foo, Monique van der Voet, S. Sendhil Velan, Bonnie Nijhof, Jaap Oostrik, Erik de Vrieze, Radoslaw Katana, Atika Mansoor, Martijn Huynen, Radek Szklarczyk, Martin Oti, Lisbeth Tranebjærg, Erwin van Wijk, Jolanda M. Scheffer-de Gooyert, Saadat Siddique, Jonathan Baets, Peter de Jonghe, Syed Ali Raza Kazmi, Suresh Anand Sadananthan, Bart P. van de Warrenburg, Chiea Chuen Khor, Martin C. Göpfert, Raheel Qamar, Annette Schenck, Hannie Kremer, Saima Siddiqi

    المصدر: Disease Models & Mechanisms, Vol 10, Iss 2, Pp 105-118 (2017)

    مصطلحات موضوعية: FITM2, Lipid droplets, Drosophila, Hearing impairment, Motor development, Dystonia, Medicine, Pathology, RB1-214

    وصف الملف: electronic resource

    العلاقة: http://dmm.biologists.org/content/10/2/105Test; https://doaj.org/toc/1754-8403Test; https://doaj.org/toc/1754-8411Test

    الوصول الحر: https://doaj.org/article/61e74f9ef396439ebd381addcbedf971Test

    View record in DOAJ النص الكامل

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  2. 2
    De novo SCN1A mutations in migrating partial seizures of infancy

    المؤلفون: Samuel F. Berkovic, David R. Thorburn, L. Hamiwka, Arvid Suls, Heather C Mefford, P. De Jonghe, Leanne M. Dibbens, B. Appleton, Todor Arsov, Mark T Mackay, Elaine C. Wirrell, Simone C. Yendle, Ingrid E. Scheffer, Tommy Stödberg, Thierry Bienvenu, Jeremy L. Freeman, Kent Kelley, Jacinta M McMahon, John C. Mulley, D. Carranza Rojo

    المساهمون: Rojo, D Carranza, Hamiwka, L, McMahon, JM, Dibbens, LM, Arsov, T, Suls, A, Stodberg, T, Kelley, K, Wirrell, E, Appleton, B, Mackay, M, Freeman, JL, Yendle, SC, Berkovic, SF, Bienvenu, T, De Jonghe, P, Thorburn, DR, Mulley, JC, Mefford, HC, Scheffer, IE

    المصدر: Neurology

    مصطلحات موضوعية: Male, Pathology, medicine.medical_specialty, DNA Copy Number Variations, CDKL5, Nerve Tissue Proteins, DNA-Directed DNA Polymerase, Protein Serine-Threonine Kinases, Biology, Bioinformatics, Sodium Channels, Epilepsy, Munc18 Proteins, Dravet syndrome, Convulsion, medicine, Humans, STXBP1, Missense mutation, Genetic Predisposition to Disease, Genetic Testing, Copy-number variation, Child, Genetic testing, severe infantile multifocal epilepsy, medicine.diagnostic_test, copy number variation, Infant, Articles, Cadherins, medicine.disease, Protocadherins, DNA Polymerase gamma, NAV1.1 Voltage-Gated Sodium Channel, epileptic encephalopathy, Child, Preschool, Mutation, Female, Human medicine, Epilepsies, Partial, Neurology (clinical), medicine.symptom

    وصف الملف: pdf

    الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::5505529999beb05557f80acb3720b784Test
    https://doi.org/10.1212/wnl.0b013e318227046dTest


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  3. 3
    Clinical spectrum of early-onset epileptic encephalopathies associated with STXBP1 mutations

    المؤلفون: Samuel F. Berkovic, Philip Holmgren, Dirk Goossens, Jurgen Del-Favero, T Van Dyck, Berten Ceulemans, Kristien Verhaert, Lieven Lagae, Ingrid E. Scheffer, Albena Jordanova, Anna Jansen, Arvid Suls, Liesbet Deprez, P. De Jonghe, Simone C. Yendle, R. Van Coster, Sarah Weckhuysen

    المساهمون: Neurology, American Academy Of, Public Health Care

    المصدر: Neurology
    ResearcherID

    مصطلحات موضوعية: Male, Pediatrics, medicine.medical_specialty, Ohtahara syndrome, Pathology, Ataxia, Encephalopathy, Epilepsies, Myoclonic, Syntaxin binding, Cohort Studies, Epilepsy, Munc18 Proteins, medicine, Humans, STXBP1, genetics, Child, business.industry, Electroencephalography, STXBP1 mutations, West Syndrome, medicine.disease, Early-onset epileptic encephalopathy, Mutation, Epilepsy syndromes, Anticonvulsants, Female, Human medicine, Neurology (clinical), medicine.symptom, business, Genome-Wide Association Study

    الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::12d1d8d514bc8605e6877b5a30f3fd6cTest
    https://doi.org/10.1212/wnl.0b013e3181f4d7bfTest


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  4. 4
    Further evidence that mutations in FGD4/frabin cause Charcot-Marie-Tooth disease type 4H

    المؤلفون: M. Casarotto, Sergio Ferrari, Vincent Timmerman, P. De Jonghe, Laura Bertolasi, T Deconinck, Gian Maria Fabrizi, Nicolo' Rizzuto, Tiziana Cavallaro, Federica Taioli

    المصدر: Neurology

    مصطلحات موضوعية: Proband, Charcot-Marie-Tooth, Pathology, medicine.medical_specialty, Molecular Sequence Data, Neural Conduction, medicine.disease_cause, FGD4 gene, Young Adult, Degenerative disease, CMT4H, neuropathy, mutation, Charcot-Marie-Tooth Disease, Charcot-Marie-Tooth disease type 4H, Humans, Medicine, Amino Acid Sequence, Child, Mutation, Nerve biopsy, Base Sequence, medicine.diagnostic_test, Genetic heterogeneity, business.industry, Microfilament Proteins, Peroneal muscular atrophy, Myelin outfoldings, medicine.disease, Pedigree, Female, Human medicine, Neurology (clinical), business, Neuroscience

    الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::fb6d3f014126726f247b8e06dafbec75Test
    https://doi.org/10.1212/01.wnl.0000345373.58618.b6Test


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  5. 5
    A novel 3′-splice site mutation in peripheral myelin protein 22 causing hereditary neuropathy with liability to pressure palsies

    المؤلفون: C. Van Broeckhoven, J. Meuleman, J. J. Martin, A. Pou-Serradell, Chantal Ceuterick, P. De Jonghe, Vincent Timmerman, Ann Löfgren

    المصدر: Neuromuscular disorders

    مصطلحات موضوعية: Adult, Male, Pathology, medicine.medical_specialty, DNA, Recombinant, medicine.disease_cause, Exon, Sural Nerve, Peripheral myelin protein 22, Pressure, Humans, Paralysis, Medicine, Child, Gene, Genetics (clinical), Genetics, Mutation, Splice site mutation, Base Sequence, business.industry, Point mutation, medicine.disease, Phenotype, Pedigree, Electrophysiology, Peripheral neuropathy, Neurology, Pediatrics, Perinatology and Child Health, Female, Neurology (clinical), Hereditary Sensory and Motor Neuropathy, business, Myelin Proteins

    الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::01d7dc1c59ba11b5947a94015bdc0dc0Test
    https://doi.org/10.1016/s0960-8966Test(00)00214-5


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  6. 6
    Axon damage in CMT due to mutation in myelin protein P0

    المؤلفون: Clemens Oliver Hanemann, P. De Jonghe, A.A.W.M. Gabreëls-Festen

    المصدر: Neuromuscular Disorders, 11, 8, pp. 753--6
    Neuromuscular Disorders, 11, 753--6
    Neuromuscular disorders

    مصطلحات موضوعية: Adult, Male, Pathology, medicine.medical_specialty, Biopsy, Axonal loss, Neural Conduction, Sural nerve, Cell Count, Biology, medicine.disease_cause, Myelin, Sural Nerve, Charcot-Marie-Tooth Disease, medicine, Humans, Axon, Genetics (clinical), Myelin Sheath, Mutation, medicine.diagnostic_test, Myelin-associated glycoprotein, Neuromusculaire en neurometabole aandoeningen, Anatomy, Middle Aged, Immunohistochemistry, Axons, Myelin-Associated Glycoprotein, medicine.anatomical_structure, Neurology, Amino Acid Substitution, Neuromuscular and neurometabolic disorders, nervous system, Pediatrics, Perinatology and Child Health, Female, Neurology (clinical), Myelin P0 Protein

    الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e942e736d7e72cf978e8992c3c6a97abTest
    https://doi.org/10.1016/s0960-8966Test(01)00229-2


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  7. 7
    Infantile Demyelinating Neuropathy Associated with a de novo Point Mutation on Ser72 in PMP22 and Basal Lamina Onion Bulbs in Skin Biopsy

    المؤلفون: C. Ceuterick-de Groote, P. De Jonghe, V. Timmerman, G. Van Goethem, A. Löfgren, B. Ceulemans, C. Van Broeckhoven, J.-J. Martin

    المصدر: Pathology, research and practice

    مصطلحات موضوعية: Male, Pathology, medicine.medical_specialty, Biopsy, DNA Mutational Analysis, Mutation, Missense, Motor nerve, Biology, Basement Membrane, Pathology and Forensic Medicine, Sural Nerve, Peripheral myelin protein 22, medicine, Humans, Point Mutation, Missense mutation, Skin, medicine.diagnostic_test, Point mutation, Cutaneous nerve, Infant, DNA, Cell Biology, Hypotonia, Amino Acid Substitution, Skin biopsy, Female, medicine.symptom, Hereditary Sensory and Motor Neuropathy, Myelin Proteins, Demyelinating Diseases

    الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f1791c182ac574d55e12658ee2ef5d69Test
    https://doi.org/10.1078/0344-0338-00033Test


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  8. 8
    Distal myopathy with upper limb predominance caused by **filamin C** haploinsufficiency

    المؤلفون: Mariana Gospodinova, Vanyo Mitev, C. Tzekov, P. De Jonghe, Teodora Chamova, Stoyan Bichev, Hanns Lochmüller, Chantal Ceuterick-de Groote, K. Storm, E. Reyniers, Vincent Timmerman, Elke Ydens, G. Hadjidekov, V. Mihaylova, Leonardo Almeida-Souza, Albena Jordanova, E. De Vriendt, A Suls, Jonathan Baets, I. Tournev, P.F.M. van der Ven, J. J. Martin, K. Peeters, Velina Guergueltcheva, Dieter O. Fürst

    المصدر: Neurology

    مصطلحات موضوعية: Adult, Male, Pathology, medicine.medical_specialty, Genotype, Genetic Linkage, Filamins, Nonsense mutation, DNA Mutational Analysis, Genome-wide association study, Haploinsufficiency, Biology, Filamin, medicine.disease_cause, Frameshift mutation, Contractile Proteins, medicine, Humans, FLNC, Myopathy, Bulgaria, Mutation, Microfilament Proteins, Middle Aged, Pedigree, Distal Myopathies, Female, Neurology (clinical), Human medicine, medicine.symptom, Genome-Wide Association Study

    الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::2cc09a5eab8334dc040c48894e873e02Test
    https://hdl.handle.net/10067/927420151162165141Test


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  9. 9
    Mutations in SACS cause atypical and late-onset forms of ARSACS

    المؤلفون: B Michielsens, Jurgen Del-Favero, P. De Jonghe, Karin Dahan, Albena Jordanova, Jonathan Baets, Dirk Goossens, T Deconinck, Wim Robberecht, Milic Rasic, Katrien Smets, Patrick Santens, P. Van den Bergh, L. De Meirleir, E. Schmedding, P. Van Damme

    المساهمون: Pediatrics, Internal Medicine Specializations, Neuroprotection & Neuromodulation

    المصدر: Neurology

    مصطلحات موضوعية: Adult, Male, Pathology, medicine.medical_specialty, Adolescent, DNA Mutational Analysis, Late onset, Autosomal recessive spastic ataxia of Charlevoix-S, Biology, medicine.disease_cause, Young Adult, Exon, ARSACS, medicine, Humans, Copy-number variation, Child, Heat-Shock Proteins, SACs, Genetics, Mutation, Cerebellar ataxia, Spastic Paraplegia, Hereditary, Middle Aged, medicine.disease, Magnetic Resonance Imaging, Phenotype, Peripheral neuropathy, Microsatellite, Female, Human medicine, Neurology (clinical), medicine.symptom

    الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::22eecc2b957d560aae0b8eaaa5983e60Test
    https://biblio.vub.ac.be/vubir/mutations-in-sacs-cause-atypical-and-lateonset-forms-of-arsacsTest(0272eb48-c1bf-4382-aa1c-51a3e8a24fe8).html


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  10. 10
    Progressive myoclonic epilepsy as an adult-onset manifestation of Leigh syndrome due to m.14487TC

    المؤلفون: J. De Bleecker, W. Van Paesschen, K. Smets, Simon Tousseyn, Patrick Santens, L. De Meirleir, Marc Gewillig, L Ceulemans, P. De Jonghe, Philippe Pals, Bart Dermaut, R. Van Coster, Joél Smet, Sara Seneca, Sarah Weckhuysen, B. De Paepe, Paul M. Parizel, L. Dom, Paul Boon

    المصدر: Journal of neurology, neurosurgery and psychiatry

    مصطلحات موضوعية: Adult, Male, medicine.medical_specialty, Pathology, Genotype, Respiratory chain, Mutation, Missense, Progressive myoclonus epilepsy, Gastroenterology, DNA, Mitochondrial, Epilepsy, Young Adult, Belgium, Internal medicine, medicine, Missense mutation, Humans, Family, Leigh disease, Age of Onset, Child, Muscle, Skeletal, Genetic Association Studies, Dystonia, business.industry, NADH Dehydrogenase, Middle Aged, medicine.disease, Myoclonic Epilepsies, Progressive, Pedigree, Psychiatry and Mental health, Mitochondrial respiratory chain, Phenotype, Dystonic Disorders, Surgery, Sensorineural hearing loss, Female, Neurology (clinical), Human medicine, Leigh Disease, business

    الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a7f98365b6e3201bd7d64bb93efc5385Test
    https://pubmed.ncbi.nlm.nih.gov/20019223Test


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