Neurology® Genetics. vol. 10 n. 5

Neurology® Genetics. vol. 10 n. 5

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Neurology® Genetics

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2024

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Article
A Novel De Novo Gain-of-Function CACNA1D Variant in Neurodevelopmental Disease With Congenital Tremor, Seizures, and Hypotonia.
Autor/s:
Dannenberg F, Von Moers A, Bittigau P, Lange J, Wiegand S, Török F, Stölting G, Striessnig J, Motazacker MM, Broekema MF, Schuelke M, Kaindl AM, Scholl UI, Ortner NJ. ...
Any publicació:
2024
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Neurology® Genetics. vol. 10 n. 5
https://www.neurology.org/doi/full/10.1212/NXG.0000000000200186
Article
Genome-Wide and Transcriptome-Wide Association Studies on Northern New England and Ohio Amyotrophic Lateral Sclerosis Cohorts.
Autor/s:
Li S, Gui J, Passarelli MN, Andrew AS, Sullivan KM, Cornell KA, Traynor BJ, Stark A, Chia R, Kuenzler RM, Pioro EP, Bradley WG, Stommel EW.
Any publicació:
2024
Número de revista:
Neurology® Genetics. vol. 10 n. 5
https://www.neurology.org/doi/full/10.1212/NXG.0000000000200188
Article
Spectrum of Leukodystrophy and Genetic Leukoencephalopathy in Indian Population Diagnosed by Clinical Exome Sequencing and Clinical Utility.
Autor/s:
Manisha KY, Fasaludeen A, Poulose P, Menon R, Thomas B, Nair SS, Cherian A, Divya KP, Sundaram S.
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2024
Número de revista:
Neurology® Genetics. vol. 10 n. 5
https://www.neurology.org/doi/full/10.1212/NXG.0000000000200190
Article
Macrostructural Brain Abnormalities in Spinal Muscular Atrophy: A Case-Control Study.
Autor/s:
Groulx-Boivin E, Oliveira-Carneiro A, Carlson H, Floer A, Kirton A, Mah J, Saint-Martin C, La Piana R, Oskoui M.
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2024
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Neurology® Genetics. vol. 10 n. 5
https://www.neurology.org/doi/full/10.1212/NXG.0000000000200193
Article
Blended Phenotype of NOTCH3 and RNF213 Variants With Accelerated Large and Small Artery Crosstalk: A Case Report and Literature Review.
Autor/s:
Saito S, Hosoki S, Yamaguchi E, Ishiyama H, Abe S, Yoshimoto T, Tanaka T, Hattori Y, Liao YC, Lee YC, Mizuta I, Mizuno T, Ihara M.
Clinical/Scientific Notes
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2024
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Neurology® Genetics. vol. 10 n. 5
https://www.neurology.org/doi/full/10.1212/NXG.0000000000200176
Article
v
Autor/s:
Berling E, Latour P, Loiselet K, Guémy C, Vidoni L, Romero NB, Lacene E, Evangelista T, Stojkovic T.
Clinical/Scientific Notes
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2024
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Neurology® Genetics. vol. 10 n. 5
https://www.neurology.org/doi/full/10.1212/NXG.0000000000200178
Article
Genetic Insights Into Hypothalamic Hamartoma: Unraveling Somatic Variants.
Autor/s:
Sami L, Chipaux M, Ferrand-Sorbets S, Doladilhe M, Bulteau C, Raffo E, Rosenberg S, Dorfmuller G, Checri R, De Sainte Agathe JM, Leguern E, Adle-Biassette H, Baldassari S, Baulac S.
Clinical/Scientific Notes
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2024
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Neurology® Genetics. vol. 10 n. 5
https://www.neurology.org/doi/full/10.1212/NXG.0000000000200180
Article
Inherited PURA Pathogenic Variant Associated With a Mild Neurodevelopmental Disorder.
Autor/s:
Hildebrand MS, Braden RO, Lauretta ML, Kaspi A, Leventer RJ, Anderson M, Goel H, Bahlo M, Scheffer IE, Amor DJ, Janowski R, Niessing D, Morgan AT.
Clinical/Scientific Notes
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2024
Número de revista:
Neurology® Genetics. vol. 10 n. 5
https://www.neurology.org/doi/full/10.1212/NXG.0000000000200181
Article
Ictal and Postictal Central Apnea in DEPDC5-Related Epilepsy.
Autor/s:
Meletti S, Duma GM, Burani M, Danieli A, Giovannini G, Osanni E, Micalizzi E, Mambretti F, Pugnaghi M, Vaudano AE, Bonanni P.
Clinical/Scientific Notes
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2024
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Neurology® Genetics. vol. 10 n. 5
https://www.neurology.org/doi/full/10.1212/NXG.0000000000200183
Article
Refractory Epilepsy in Adult Patient With COQ8A Variant Improves With CoQ10 Supplementation: A Case for Exome Sequencing in the ICU.
Autor/s:
LoVoi J, Thai DQ, Han J, Wang S, Agonafer M, Thankappan B.
Clinical/Scientific Notes
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2024
Número de revista:
Neurology® Genetics. vol. 10 n. 5
https://www.neurology.org/doi/full/10.1212/NXG.0000000000200184
Article
A Titin Truncating Variant Causing a Dominant Myopathy With Cardiac Involvement in a Large Family: The Exception That Proves the Rule.
Autor/s:
Claeys KG, Savarese M, Jonson PH, Goosens V, Topf A, Vihola A, Straub V, Udd B.
Clinical/Scientific Notes
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2024
Número de revista:
Neurology® Genetics. vol. 10 n. 5
https://www.neurology.org/doi/full/10.1212/NXG.0000000000200185
Article
Global Presence and Penetrance of CSF1R-Related Disorder.
Autor/s:
Dulski J, Baker M, Banks SA, Bayat M, Bruffaerts R, Ortiz Cruz G, Disserol CC, Fisher KS, Jose JN, Kalman B, Kantarci OH, Maltsev D, Middleton C, Novotni G, Plaseska-Karanfilska D, Raskin S, Souza J, Teive HA, Wszolek ZK.
Clinical/Scientific Notes
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2024
Número de revista:
Neurology® Genetics. vol. 10 n. 5
https://www.neurology.org/doi/full/10.1212/NXG.0000000000200187
Article
Elevated VCP ATPase Activity Correlates With Disease Onset in Multisystem Proteinopathy-1.
Autor/s:
Robinson SE, Findlay AR, Li S, Wang F, Schiava M, Daw J, Diaz-Manera J, Chou TF, Weihl CC.
Clinical/Scientific Notes
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2024
Número de revista:
Neurology® Genetics. vol. 10 n. 5
https://www.neurology.org/doi/full/10.1212/NXG.0000000000200191
Article
Clinical Approach to Genetic Cerebral Arteriopathy in the Adult Patient With Ischemic Stroke.
Autor/s:
Haddad EN, Kumar P, Shearn-Nance G, Kharal GA, Dhawan A.
Review
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2024
Número de revista:
Neurology® Genetics. vol. 10 n. 5
https://www.neurology.org/doi/full/10.1212/NXG.0000000000200182
Article
Practical Approach to Longitudinal Neurologic Care of Adults With X-Linked Adrenoleukodystrophy and Adrenomyeloneuropathy.
Autor/s:
Kornbluh AB, Baldwin A, Fatemi A, Vanderver A, Adang LA, Van Haren K, Sampson J, Eichler FS, Sadjadi R, Engelen M, Orthmann-Murphy JL.
Review
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2024
Número de revista:
Neurology® Genetics. vol. 10 n. 5
https://www.neurology.org/doi/full/10.1212/NXG.0000000000200192
Correction
Correction for: Pongpakdee S, Apiwattanakul M, Termglinchan T, Witoonpanich R, Dejthevaporn C, Lee T, Wansophonkul S, Yamanaka A, Funaguma S, Lida A, Nishino I. CGG/CCG Repeat Expansions in LOC642361/NUTM2B-AS1 in Thai Patients With Oculopharyngodistal Myopathy. Neurol Genet. 2024 Jul 8;10(4):...
Any publicació:
2024
Número de revista:
Neurology® Genetics. vol. 10 n. 5
https://www.neurology.org/doi/full/10.1212/NXG.0000000000200189

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Neurology® Genetics. vol. 10 n. 5

Neurology® Genetics. vol. 10 n. 5

En aquest número

A Novel De Novo Gain-of-Function CACNA1D Variant in Neurodevelopmental Disease With Congenital Tremor, Seizures, and Hypotonia.

Genome-Wide and Transcriptome-Wide Association Studies on Northern New England and Ohio Amyotrophic Lateral Sclerosis Cohorts.

Spectrum of Leukodystrophy and Genetic Leukoencephalopathy in Indian Population Diagnosed by Clinical Exome Sequencing and Clinical Utility.

Macrostructural Brain Abnormalities in Spinal Muscular Atrophy: A Case-Control Study.

Blended Phenotype of NOTCH3 and RNF213 Variants With Accelerated Large and Small Artery Crosstalk: A Case Report and Literature Review.

v

Genetic Insights Into Hypothalamic Hamartoma: Unraveling Somatic Variants.

Inherited PURA Pathogenic Variant Associated With a Mild Neurodevelopmental Disorder.

Ictal and Postictal Central Apnea in DEPDC5-Related Epilepsy.

Refractory Epilepsy in Adult Patient With COQ8A Variant Improves With CoQ10 Supplementation: A Case for Exome Sequencing in the ICU.

A Titin Truncating Variant Causing a Dominant Myopathy With Cardiac Involvement in a Large Family: The Exception That Proves the Rule.

Global Presence and Penetrance of CSF1R-Related Disorder.

Elevated VCP ATPase Activity Correlates With Disease Onset in Multisystem Proteinopathy-1.

Clinical Approach to Genetic Cerebral Arteriopathy in the Adult Patient With Ischemic Stroke.

Practical Approach to Longitudinal Neurologic Care of Adults With X-Linked Adrenoleukodystrophy and Adrenomyeloneuropathy.

Correction

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