Neurology® Genetics. vol. 10 n. 6

Neurology® Genetics. vol. 10 n. 6

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Neurology® Genetics

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2024

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Article
Adult Phenotype of CHD2-Associated Disorders.
Autor/s:
Rong M, Zulfiqar Ali Q, Aledo-Serrano A, Bayat A, Devinsky O, Qaiser F, Chandran I, Ali A, Fasano A, Bassett AS, Andrade DM.
Any publicació:
2024
Número de revista:
Neurology® Genetics. vol. 10 n. 6
https://www.neurology.org/doi/full/10.1212/NXG.0000000000200194
Article
Updated Genetic Analysis of Japanese Familial ALS Patients Carrying SOD1 Variants Revealed Phenotypic Differences for Common Variants.
Autor/s:
Nishiyama A, Niihori T, Suzuki N, Izumi R, Akiyama T, Kato M, Funayama R, Nakayama K, Warita H, Aoki Y, Aoki M.
Any publicació:
2024
Número de revista:
Neurology® Genetics. vol. 10 n. 6
https://www.neurology.org/doi/full/10.1212/NXG.0000000000200196
Article
Examining the Performance of Polygenic Risk Scores for Alzheimer Disease Within and Across Populations Using k-Fold Cross-Validation
Autor/s:
Osterman MD, Song YE, Lynn A, Miskimen K, Wheeler NR, Bartlett J, Farrer LA, Schellenberg GD, Martin ER, Pericak-Vance MA, Bush WS, Haines JL as the Alzheimer's Disease Sequencing Project ...
Any publicació:
2024
Número de revista:
Neurology® Genetics. vol. 10 n. 6
https://www.neurology.org/doi/full/10.1212/NXG.0000000000200198
Article
TTN-Related Muscular Dystrophies, LGMD, and TMD, in an Estonian Family Caused by the Finnish Founder Variant.
Autor/s:
Õunap K, Reimand T, Õiglane-Shlik E, Puusepp S, Mihkla L, Pajusalu S, Savarese M, Udd B.
Any publicació:
2024
Número de revista:
Neurology® Genetics. vol. 10 n. 6
https://www.neurology.org/doi/full/10.1212/NXG.0000000000200199
Article
Clinical and Genetic Analysis of 8 Children With Ornithine Transcarbamylase Deficiency: Two Novel Mutations.
Autor/s:
Zhang C, Shan J, Su J, Wang G, Huo Q, Xu R, Dong M.
Any publicació:
2024
Número de revista:
Neurology® Genetics. vol. 10 n. 6
https://www.neurology.org/doi/full/10.1212/NXG.0000000000200204
Article
Shared Genetics of Migraine and Gastrointestinal Disorders Implicates Underlying Neurologic Mechanisms Yet Heterogeneous Etiologies.
Autor/s:
Chasman DI, Guo Y, Chan AT, Rist PM, Staller K.
Any publicació:
2024
Número de revista:
Neurology® Genetics. vol. 10 n. 6
https://www.neurology.org/doi/full/10.1212/NXG.0000000000200201
Article
Disease Progression of GNE Myopathy and Its Relationship With Genotype: A Retrospective, Observational Study in Chinese Patients.
Autor/s:
Sun H, Zheng F, Yu J, Meng L, Gang Q, Lv H, Zhang W, Yuan Y, Yu M, Wang Z.
Any publicació:
2024
Número de revista:
Neurology® Genetics. vol. 10 n. 6
https://www.neurology.org/doi/full/10.1212/NXG.0000000000200203
Article
TRPM8 Mutations Associated With Persistent Pain After Surgical Injury of Corneal Trigeminal Axons.
Autor/s:
Ghovanloo MR, Effraim PR, Tyagi S, Aldrich AM, Cheng X, Yuan JH, Schulman BR, Jacobs DS, Dib-Hajj SD, Waxman SG.
Any publicació:
2024
Número de revista:
Neurology® Genetics. vol. 10 n. 6
https://www.neurology.org/doi/full/10.1212/NXG.0000000000200206
Article
Clinical Features, Biochemistry, Imaging, and Treatment Response in a Single-Center Cohort With Coenzyme Q10 Biosynthesis Disorders.
Autor/s:
Wahedi A, Sudhakar S, Lam A, Ciancio JIR, Mills P, Gissen P, Gardham A, Kapadia J, Hassell J, Heales S, Rahman S.
Any publicació:
2024
Número de revista:
Neurology® Genetics. vol. 10 n. 6
https://www.neurology.org/doi/full/10.1212/NXG.0000000000200209
Article
Assessment of the Clinical Interactions of GAA Repeat Expansions in FGF14 and FXN.
Autor/s:
Gerhart BJ, Pellerin D, Danzi MC, Zuchner S, Brais B, Matos-Rodrigues G, Nussenzweig A, Usdin K, Park CC, Napierala JS, Lynch DR, Napierala M
Any publicació:
2024
Número de revista:
Neurology® Genetics. vol. 10 n. 6
https://www.neurology.org/doi/full/10.1212/NXG.0000000000200210
Article
Quantitative Muscle MRI to Monitor Disease Progression in Hypokalemic Period Paralysis.
Autor/s:
Holm-Yildiz S, Krag T, Dysgaard T, Pedersen BS, Witting N, Kodal LS, Kannuberg L, Pedersen JJ, Lyu Z, Aagaard MM, Vissing J.
Any publicació:
2024
Número de revista:
Neurology® Genetics. vol. 10 n. 6
https://www.neurology.org/doi/full/10.1212/NXG.0000000000200211
Article
Global Perspectives on Returning Genetic Research Results in Parkinson Disease.
Autor/s:
Tan AH, Saffie-Awad P, Schumacher Schuh AF, Lim SY, Madoev H, Ahmad-Annuar A, Solle J, Wegel CE, Doquenia ML, Dey S, Perinan MT, Makarious MB, Fiske B, Morris HR, Noyce AJ, Alcalay RN, Kumar KR, Klein C; Global Parkinson's Genetic Program (GP2)...
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2024
Número de revista:
Neurology® Genetics. vol. 10 n. 6
https://www.neurology.org/doi/full/10.1212/NXG.0000000000200213
Article
Nemaline Myopathy Type 6 Caused by Variants in the KBTBD13 Gene: A Cross-Sectional Study of 24 Patients.
Autor/s:
van Kleef ESB, Bouman K, Molenaar JPF, Küsters B, Groothuis JT, Olivé M, Malfatti E, Kamsteeg EJ, Van Engelen BGM, Ottenheijm CAC, Doorduin J, Voermans NC.
Any publicació:
2024
Número de revista:
Neurology® Genetics. vol. 10 n. 6
https://www.neurology.org/doi/pdf/10.1212/NXG.0000000000200214
Fetal Brain MRI Findings in Myotonic Dystrophy and Considerations for Prenatal Genetic Testing.
Autor/s:
Shear MA, Penon-Portmann M, Shieh JT, Glenn OA, Thiet MP, Chetty S, Sparks TN, Gano D.
Clinical/Scientific Notes
Any publicació:
2024
Número de revista:
Neurology® Genetics. vol. 10 n. 6
https://www.neurology.org/doi/full/10.1212/NXG.0000000000200171
Adult Neuropsychiatric Manifestation of Hartnup Disease With a Novel SLCA6A19 Variant: A Case Report.
Autor/s:
Bachmann T, Faust H, Abou Jamra R, Pott C, Kluge M, Rumpf JJ, Then Bergh F, Beblo S.
Clinical/Scientific Notes
Any publicació:
2024
Número de revista:
Neurology® Genetics. vol. 10 n. 6
https://www.neurology.org/doi/full/10.1212/NXG.0000000000200195
SLC29A3 Pathogenic Variants Resulting in Dural Based Fibroinflammatory Mass Lesions and H Syndrome Treated With Cobimetinib: A Case Report.
Autor/s:
Banks SA, Abeykoon JP, Rech K, Morris P, Tan QKG, Veres LN, Schoonover KL, Aksamit AJ, Keating GF, Kissoon N, Sominidi Damodaran S, Maredia HS, Davidge-Pitts CJ, Villasboas JC, Go R, Tobin WO; Mayo Clinic-University of Alabama at Birmingham Histiocytosis Working Group.
Clinical/Scientific Notes
Any publicació:
2024
Número de revista:
Neurology® Genetics. vol. 10 n. 6
https://www.neurology.org/doi/full/10.1212/NXG.0000000000200197
Progressive Apraxia of Speech as a Manifestation of Spinocerebellar Ataxia 2: Case Report.
Autor/s:
Blazek AM, Meade G, Jackson LM, Gavrilova R, Stierwalt J, Martinez-Thompson JM, Duffy JR, Clark H, Machulda MM, Whitwell JL, Josephs KA, Utianski RL, Botha H.
Clinical/Scientific Notes
Any publicació:
2024
Número de revista:
Neurology® Genetics. vol. 10 n. 6
https://www.neurology.org/doi/full/10.1212/NXG.0000000000200202
Diagnosing Late-Onset Tay-Sachs Through Next Generation Sequencing and Functional Enzyme Testing: From Genes to Enzymes.
Autor/s:
Tupil AR, Rivlin W, Mccombe PA, Henderson RD, Rodgers J, Vadlamudi L.
Clinical/Scientific Notes
Any publicació:
2024
Número de revista:
Neurology® Genetics. vol. 10 n. 6
https://www.neurology.org/doi/full/10.1212/NXG.0000000000200205
Bilateral Dentate Nuclei Hyperintensities and Response to 4-Aminopyridine in a Patient With Childhood-Onset GAA-FGF14-Related Ataxia.
Autor/s:
Mitrotti P, Vegezzi E, Zangaglia R, Palmieri I, Dicaire MJ, Gana S, Aghdas SR, Nicolosi S, Pichiecchio A, Tassorelli C, Valente EM, Avenali M.
Clinical/Scientific Notes
Any publicació:
2024
Número de revista:
Neurology® Genetics. vol. 10 n. 6
https://www.neurology.org/doi/full/10.1212/NXG.0000000000200208
Novel Biallelic Synonymous Exonic Variant in VPS13A Affecting mRNA Splicing: Case Report.
Autor/s:
Hoe RHM, Zhao Y, Ong HL, Tay KSS, Tan NCK, Khor MJY, Fan BE, Peikert K, Hermann A, Neo S, Chen Z.
Clinical/Scientific Notes
Any publicació:
2024
Número de revista:
Neurology® Genetics. vol. 10 n. 6
https://www.neurology.org/doi/full/10.1212/NXG.0000000000200207
Novel AIFM1 Variant in 2 Siblings With Sensorineural Hearing Loss and Cerebellar Ataxia.
Autor/s:
Vasquez A, Schimmenti LA, Demirel N, Rabatin AE, Fischer CR, Pinto MV, Boesch RP, Selcen D.
Clinical/Scientific Notes
Any publicació:
2024
Número de revista:
Neurology® Genetics. vol. 10 n. 6
https://www.neurology.org/doi/full/10.1212/NXG.0000000000200216
Rapidly Progressing and Early-Onset Forms of Amyotrophic Lateral Sclerosis Caused by a Novel SOD1 Variant in a Lithuanian Family.
Autor/s:
Valančius D, Burnytė B, Masaitienė R, Morkūnienė A, Klimašauskienė A.
Clinical/Scientific Notes
Any publicació:
2024
Número de revista:
Neurology® Genetics. vol. 10 n. 6
https://www.neurology.org/doi/full/10.1212/NXG.0000000000200217
Correction
Correction for: Costa-Roger M, Blasco-Pérez L, Gerin L, Codina-Solà M, Leno-Colorado J, Gómez-García De la Banda M, Garcia-Uzquiano R, Saugier-Veber P, Drunat S, Quijano-Roy S, Tizzano EF. Complex SMN Hybrids Detected in a Cohort of 31 Patients With Spinal Muscular Atrophy. Neurol Genet. 2024 Jul...
Any publicació:
2024
Número de revista:
Neurology® Genetics. vol. 10 n. 6
https://www.neurology.org/doi/full/10.1212/NXG.0000000000200212
Missing Full Disclosures
Correction for: Noda K, Hattori Y, Hori M, Harada-Shiba M, Ihara M. A Case of Multiple Intracranial Major Artery Stenoses With Coexisting PCSK9 p.E32K and RNF213 p.R4810K Variants . Neurol Genet. 2023 Sep 5;9(5):e200099. doi: 10.1212/NXG.0000000000200099. PMID: 38235366 Correction for: Laliberté A...
Any publicació:
2024
Número de revista:
Neurology® Genetics. vol. 10 n. 6
https://www.neurology.org/doi/pdf/10.1212/NXG.0000000000200218

Una iniciativa de:

Neurology® Genetics. vol. 10 n. 6

Adult Phenotype of CHD2-Associated Disorders.

Updated Genetic Analysis of Japanese Familial ALS Patients Carrying SOD1 Variants Revealed Phenotypic Differences for Common Variants.

Examining the Performance of Polygenic Risk Scores for Alzheimer Disease Within and Across Populations Using k-Fold Cross-Validation

TTN-Related Muscular Dystrophies, LGMD, and TMD, in an Estonian Family Caused by the Finnish Founder Variant.

Clinical and Genetic Analysis of 8 Children With Ornithine Transcarbamylase Deficiency: Two Novel Mutations.

Shared Genetics of Migraine and Gastrointestinal Disorders Implicates Underlying Neurologic Mechanisms Yet Heterogeneous Etiologies.

Disease Progression of GNE Myopathy and Its Relationship With Genotype: A Retrospective, Observational Study in Chinese Patients.

TRPM8 Mutations Associated With Persistent Pain After Surgical Injury of Corneal Trigeminal Axons.

Clinical Features, Biochemistry, Imaging, and Treatment Response in a Single-Center Cohort With Coenzyme Q10 Biosynthesis Disorders.

Assessment of the Clinical Interactions of GAA Repeat Expansions in FGF14 and FXN.

Quantitative Muscle MRI to Monitor Disease Progression in Hypokalemic Period Paralysis.

Global Perspectives on Returning Genetic Research Results in Parkinson Disease.

Nemaline Myopathy Type 6 Caused by Variants in the KBTBD13 Gene: A Cross-Sectional Study of 24 Patients.

Fetal Brain MRI Findings in Myotonic Dystrophy and Considerations for Prenatal Genetic Testing.

Adult Neuropsychiatric Manifestation of Hartnup Disease With a Novel SLCA6A19 Variant: A Case Report.

SLC29A3 Pathogenic Variants Resulting in Dural Based Fibroinflammatory Mass Lesions and H Syndrome Treated With Cobimetinib: A Case Report.

Progressive Apraxia of Speech as a Manifestation of Spinocerebellar Ataxia 2: Case Report.

Diagnosing Late-Onset Tay-Sachs Through Next Generation Sequencing and Functional Enzyme Testing: From Genes to Enzymes.

Bilateral Dentate Nuclei Hyperintensities and Response to 4-Aminopyridine in a Patient With Childhood-Onset GAA-FGF14-Related Ataxia.

Novel Biallelic Synonymous Exonic Variant in VPS13A Affecting mRNA Splicing: Case Report.

Novel AIFM1 Variant in 2 Siblings With Sensorineural Hearing Loss and Cerebellar Ataxia.

Rapidly Progressing and Early-Onset Forms of Amyotrophic Lateral Sclerosis Caused by a Novel SOD1 Variant in a Lithuanian Family.

Correction

Missing Full Disclosures

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