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1
Impairments in contractility and cytoskeletal organisation cause nuclear defects in nemaline myopathy
Impairments in contractility and cytoskeletal organisation cause nuclear defects in nemaline myopathy
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Impairments in contractility and cytoskeletal organisation cause nuclear defects in nemaline myopathy

Jacob A Ross Yotam Levy; Michela Ripolone; Justin S Kolb; Mark Turmaine; Mark Holt; Johan Lindqvist; Kristl G Claeys; Joachim Weis; Edmar Zanoteli

Acta neuropathologica v. 138, n. 3, Special Issue, p. 477-495, 2019

New York 2019

Acesso online. A biblioteca também possui exemplares impressos.

2
Congenital myopathies: an update
Congenital myopathies: an update
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Congenital myopathies: an update

Claeys, Kristl G

Developmental medicine and child neurology, 2020-03, Vol.62 (3), p.297-302 [Periódico revisado por pares]

England

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3
Diagnostic Challenges and Clinical Characteristics of Hepatitis E Virus–Associated Guillain-Barré Syndrome
Diagnostic Challenges and Clinical Characteristics of Hepatitis E Virus–Associated Guillain-Barré Syndrome
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Diagnostic Challenges and Clinical Characteristics of Hepatitis E Virus–Associated Guillain-Barré Syndrome

Stevens, Olivier ; Claeys, Kristl G ; Poesen, Koen ; Saegeman, Veroniek ; Van Damme, Philip

JAMA neurology, 2017-01, Vol.74 (1), p.26-33 [Periódico revisado por pares]

United States: American Medical Association

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4
Inflammatory markers in cerebrospinal fluid: independent prognostic biomarkers in amyotrophic lateral sclerosis?
Inflammatory markers in cerebrospinal fluid: independent prognostic biomarkers in amyotrophic lateral sclerosis?
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Inflammatory markers in cerebrospinal fluid: independent prognostic biomarkers in amyotrophic lateral sclerosis?

Gille, Benjamin ; De Schaepdryver, Maxim ; Dedeene, Lieselot ; Goossens, Janne ; Claeys, Kristl G ; Van Den Bosch, Ludo ; Tournoy, Jos ; Van Damme, Philip ; Poesen, Koen

Journal of neurology, neurosurgery and psychiatry, 2019-12, Vol.90 (12), p.1338-1346 [Periódico revisado por pares]

England: BMJ Publishing Group LTD

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5
Nuclear actin aggregation is a hallmark of anti-synthetase syndrome–induced dysimmune myopathy
Nuclear actin aggregation is a hallmark of anti-synthetase syndrome–induced dysimmune myopathy
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Nuclear actin aggregation is a hallmark of anti-synthetase syndrome–induced dysimmune myopathy

Stenzel, Werner ; Preue, Corinna ; Allenbach, Yves ; Pehl, Debora ; Junckerstorff, Reimar ; Heppner, Frank L. ; Nolte, Kay ; Aronica, Eleonora ; Kana, Veronika ; Rushing, Elisabeth ; Schneider, Udo ; Claeys, Kristl G. ; Benveniste, Olivier ; Weis, Joachim ; Goebel, Hans H.

Neurology, 2015-03, Vol.84 (13), p.1346-1354 [Periódico revisado por pares]

United States: American Academy of Neurology

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6
Minimal clinically important differences in six-minute walking distance in late-onset Pompe disease
Minimal clinically important differences in six-minute walking distance in late-onset Pompe disease
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Minimal clinically important differences in six-minute walking distance in late-onset Pompe disease

Claeys, Kristl G ; Kushlaf, Hani ; Raza, Syed ; Hummel, Noemi ; Shohet, Simon ; Keyzor, Ian ; Kopiec, Agnieszka ; Graham, Ryan ; Fox, Brian ; Schoser, Benedikt

Orphanet journal of rare diseases, 2024-04, Vol.19 (1), p.154-154, Article 154 [Periódico revisado por pares]

England: BioMed Central Ltd

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7
Towards a functional pathology of hereditary neuropathies
Towards a functional pathology of hereditary neuropathies
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Towards a functional pathology of hereditary neuropathies

Weis, Joachim ; Claeys, Kristl G. ; Roos, Andreas ; Azzedine, Hamid ; Katona, Istvan ; Schröder, J. Michael ; Senderek, Jan

Acta Neuropathologica, 2017-04, Vol.133 (4), p.493-515 [Periódico revisado por pares]

Berlin/Heidelberg: Springer Berlin Heidelberg

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8
Biochemical and clinical biomarkers in adult SMA 3–4 patients treated with nusinersen for 22 months
Biochemical and clinical biomarkers in adult SMA 3–4 patients treated with nusinersen for 22 months
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Biochemical and clinical biomarkers in adult SMA 3–4 patients treated with nusinersen for 22 months

De Wel, Bram ; De Schaepdryver, Maxim ; Poesen, Koen ; Claeys, Kristl G.

Annals of clinical and translational neurology, 2022-08, Vol.9 (8), p.1241-1251 [Periódico revisado por pares]

Bognor Regis: John Wiley & Sons, Inc

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9
Expanded phenotypic spectrum of the m.8344A>G “MERRF” mutation: data from the German mitoNET registry
Expanded phenotypic spectrum of the m.8344A>G “MERRF” mutation: data from the German mitoNET registry
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Expanded phenotypic spectrum of the m.8344A>G “MERRF” mutation: data from the German mitoNET registry

Altmann, Judith ; Büchner, Boriana ; Nadaj-Pakleza, Aleksandra ; Schäfer, Jochen ; Jackson, Sandra ; Lehmann, Diana ; Deschauer, Marcus ; Kopajtich, Robert ; Lautenschläger, Ronald ; Kuhn, Klaus A. ; Karle, Kathrin ; Schöls, Ludger ; Schulz, Jörg B. ; Weis, Joachim ; Prokisch, Holger ; Kornblum, Cornelia ; Claeys, Kristl G. ; Klopstock, Thomas

Journal of neurology, 2016-05, Vol.263 (5), p.961-972 [Periódico revisado por pares]

Berlin/Heidelberg: Springer Berlin Heidelberg

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10
Sporadic late-onset nemaline myopathy: clinico-pathological characteristics and review of 76 cases
Sporadic late-onset nemaline myopathy: clinico-pathological characteristics and review of 76 cases
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Sporadic late-onset nemaline myopathy: clinico-pathological characteristics and review of 76 cases

Schnitzler, Lukas J ; Schreckenbach, Tobias ; Nadaj-Pakleza, Aleksandra ; Stenzel, Werner ; Rushing, Elisabeth J ; Van Damme, Philip ; Ferbert, Andreas ; Petri, Susanne ; Hartmann, Christian ; Bornemann, Antje ; Meisel, Andreas ; Petersen, Jens A ; Tousseyn, Thomas ; Thal, Dietmar R ; Reimann, Jens ; De Jonghe, Peter ; Martin, Jean-Jacques ; Van den Bergh, Peter Y ; Schulz, Jörg B ; Weis, Joachim ; Claeys, Kristl G

Orphanet journal of rare diseases, 2017-05, Vol.12 (1), p.86-86, Article 86 [Periódico revisado por pares]

England: BioMed Central

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  1. Levy, Y  (1)
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Deste Autor:

  1. Levy, Y
  2. Lindqvist, J
  3. Turmaine, M
  4. Ripolone, M
  5. Claeys, K

Neste Assunto:

  1. Science & Technology
  2. Life Sciences & Biomedicine
  3. Neurosciences & Neurology
  4. Humans
  5. Clinical Neurology

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