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Article
Novel TOP3A Variant Associated With Mitochondrial Disease: Expanding the Clinical Spectrum of Topoisomerase III Alpha–Related Diseases
Autor/s:
Primiano G, Torraco A, Verrigni D, Sabino A, Bertini E, Carrozzo R, Silvestri G, Servidei S
Clinical/Scientific Notes
Any publicació:
2022
Número de revista:
Neurology® Genetics. vol. 8 n. 4
https://ng.neurology.org/content/8/4/e200007
Article
Expanding the Phenotypic Spectrum of Vocal Cord and Pharyngeal Weakness With Distal Myopathy due to the p.S85C MATR3 Mutation
Autor/s:
Manini A, Velardo D, Ciscato P, Cinnante C, Moggio M, Comi G, Corti S, Ronchi D
Clinical/Scientific Notes
Any publicació:
2022
Número de revista:
Neurology® Genetics. vol. 8 n. 4
https://ng.neurology.org/content/8/4/e200006
Article
Neurofibromatosis-1 Gene Mutational Profiles Differ Between Syndromic Disease and Sporadic Cancers
Autor/s:
Bewley AF, Akinwe TM, Turner TN, Gutmann DH
Clinical/Scientific Notes
Any publicació:
2022
Número de revista:
Neurology® Genetics. vol. 8 n. 4
https://ng.neurology.org/content/8/4/e200003
Article
Familial Brain Calcifications With Leukoencephalopathy: A Novel PDGFB Variant
Autor/s:
Shen J, Shillington A, Espay AJ, Hill EJ
Clinical/Scientific Notes
Any publicació:
2022
Número de revista:
Neurology® Genetics. vol. 8 n. 4
https://ng.neurology.org/content/8/4/e200001
Article
Questioning the Association of the STMN2 Dinucleotide Repeat With Amyotrophic Lateral Sclerosis
Autor/s:
Ross JP, Akçimen F, Liao C, Spiegelman D, Weisburd B, Dupré N, Dion PA, Rouleau GA, Farhan SMK
Clinical/Scientific Notes
Any publicació:
2022
Número de revista:
Neurology® Genetics. vol. 8 n. 4
https://ng.neurology.org/content/8/4/e678
Editorial
Picking Brains on a Global Scale: Practice Current and Practice Buzz
Autor/s:
Zea Vera A, Bartolini L, Ganesh A
Special Editorial
Any publicació:
2022
Número de revista:
Neurology® Clinical Practice vol. 12 n. 4
https://cp.neurology.org/content/12/4/e33
Article
Scoliosis in Spinal Muscular Atrophy Type 1 in the Nusinersen Era
Autor/s:
Al Amrani F, Amin R, Chiang J, Xiao L, Boyd J, Law E, Nigro E, Weinstock L, Stosic A, Gonorazky HD
Any publicació:
2022
Número de revista:
Neurology® Clinical Practice vol. 12 n. 4
https://cp.neurology.org/content/12/4/279
Article
Inpatients With Dementia Referred for Palliative Care Consultation: A Multicenter Analysis
Autor/s:
Goss A, O'Riordan DL, Pantilat SZ...
Any publicació:
2022
Número de revista:
Neurology® Clinical Practice vol. 12 n. 4
https://cp.neurology.org/content/12/4/288
Article
Diagnostic Accuracy of Clinical Signs and Biochemical Parameters for External Ventricular CSF Catheter-Associated Infection
Autor/s:
Dorresteijn KRIS, Verheul RJ, Ponjee GAE, Tewarie RN, Müller MCA, van de Beek D, Brouwer MC, Jellema K
Any publicació:
2022
Número de revista:
Neurology® Clinical Practice vol. 12 n. 4
https://cp.neurology.org/content/12/4/298
Article
Uses of the NIH Toolbox® in Clinical Samples: A Scoping Review
Autor/s:
Fox RS, Zhang M, Amagai S, Bassard A, Dworak EM, Han C, Kassanits J, Miller CH, Nowinski CJ, Giella AK, Stoeger JN, Swantek K, Hook JN, Gershon RC
Any publicació:
2022
Número de revista:
Neurology® Clinical Practice vol. 12 n. 4
https://cp.neurology.org/content/12/4/307