Publicacions científiques

Kern J, Böhringer J, Timmann D, Trollmann R, Stendel C, Kamm C, Röbl M, Santhanakumaran V, Groeschel S, Beck-Wödl S, Göricke S, Krägeloh-Mann I, Synofzik M.

Any publicació:

2024

Número de revista:

Neurology vol. 102 n. 1

https://www.neurology.org/doi/full/10.1212/WNL.0000000000207898

Article

Clinical, Neuroimaging, and Metabolic Footprint of the Neurodevelopmental Disorder Caused by Monoallelic HK1 Variants

Autor/s:

Wortmann SB, Feichtinger RG, Abela L, van Gemert LA, Aubart M, Dufeu Berat CM, Boddaert N, de Coo R, Stühn L, Hebbink J, Heinritz W, Hildebrandt J, Himmelreich N, Korenke C, Lehman A, Leyland T, Makowski C, Martinez Marin RJ, Marzin P, Mühlhausen C, Rio M, Rotig A, Roux CJ, Schiff M, Haack TB,...

Any publicació:

2024

Número de revista:

Neurology® Genetics. vol. 10 n. 2

https://www.neurology.org/doi/full/10.1212/NXG.0000000000200129

Article

Clinicopathologic Findings in Patients With Paraneoplastic Neuropathies and Antibodies Strongly Associated With Cancer.

Autor/s:

Granger A, Rajnauth T, Lahoria R, Dubey D, Mills J, Mauermann ML, Berini SE, Spinner RJ, Dyck PJB, Klein CJ.

Any publicació:

2024

Número de revista:

Neurology vol. 102 n. 2

https://www.neurology.org/doi/full/10.1212/WNL.0000000000207982

CNS Inflammation as the First Sign of Complement Factor I Deficiency: A Severe Myelitis Treated With Intense Immunotherapy and Eculizumab.

Autor/s:

Massey V, Nguyen CE, François T, De Bruycker JJ, Bonnefoy A, Lapeyraque AL, Decaluwe H.

Clinical/Scientific Note

Any publicació:

2024

Número de revista:

Neurology Neuroimmunology & Neuroinflammation vol. 11 n. 2

https://www.neurology.org/doi/full/10.1212/NXI.0000000000200191

Article

Cognitive and Behavioral Features of Patients With Amyotrophic Lateral Sclerosis Who Are Carriers of the TARDBP Pathogenic Variant.

Autor/s:

Moglia C, Calvo A, Canosa A, Manera U, Vasta R, Di Pede F, Daviddi M, Matteoni E, Brunetti M, Sbaiz L, Cabras S, Gallone S, Grassano M, Peotta L, Palumbo F, Mora G, Iazzolino B, Chio A.

Any publicació:

2024

Número de revista:

Neurology vol. 102 n. 4

https://www.neurology.org/doi/full/10.1212/WNL.0000000000208082

Una iniciativa de:

Cercador

Clinical Reasoning: A 19-Month-Old Girl With Infantile-Onset Myopathy and White Matter Changes.

Clinical Reasoning: A 24-Year-Old Woman With Penetrating Neck Injury From a Needlefish.

Clinical Reasoning: A 30-Year-Old Woman Presenting With Rapidly Progressive Dementia and Extreme Hypoglycorrhachia.

Clinical Reasoning: A 54-Year-Old Woman With Progressive Headache and Neurologic Decline.

Clinical Uptake of Pediatric Exoskeletons: Pilot Study Using the Consolidated Framework for Implementation Research.

Clinical, Imaging, Genetic, and Disease Course Characteristics in Patients With GM2 Gangliosidosis.

Clinical, Neuroimaging, and Metabolic Footprint of the Neurodevelopmental Disorder Caused by Monoallelic HK1 Variants

Clinicopathologic Findings in Patients With Paraneoplastic Neuropathies and Antibodies Strongly Associated With Cancer.

CNS Inflammation as the First Sign of Complement Factor I Deficiency: A Severe Myelitis Treated With Intense Immunotherapy and Eculizumab.

Cognitive and Behavioral Features of Patients With Amyotrophic Lateral Sclerosis Who Are Carriers of the TARDBP Pathogenic Variant.

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