Publicaciones científicas

Artículo

Clinical and genetic spectra of 1550 index patients with hereditary spastic paraplegia.

Autor/es:

Méreaux JL, Banneau G, Papin M, Coarelli G, Valter R, Raymond L, Kol B, Ariste O, Parodi L, Tissier L, Mairey M, Ait Said S, Gautier C, Guillaud-Bataille M; French SPATAX clinical network, Forlani S, de la Grange P, Brice A, Vazza G, Durr A, Leguern E, Stevanin G.

Editor's Choice

Año publicación:

2022

Número de revista:

Brain vol. 145 n. 3

https://academic.oup.com/brain/article/145/3/1029/6497016

Clinical and genetic spectrum of 355 Chinese children with epilepsy: a trio-sequencing-based study.

Autor/es:

Duan J, Ye Y, Cao D, Zou D, Lu X, Chen L, Wen J, Zou H, Gao J, Li B, Hu Z, Liao J.

Letters to the editor

Año publicación:

2022

Número de revista:

Brain vol. 145 n. 5

https://academic.oup.com/brain/article/145/5/e43/6540466

Artículo

Clinical and genetic spectrum of a large cohort of patients with δ-sarcoglycan muscular dystrophy.

Autor/es:

Alonso-Pérez J, González-Quereda L, Bruno C, Panicucci C, Alavi A, Nafissi S, Nilipour Y, Zanoteli E, Isihi LMA, Melegh B, Hadzsiev K, Muelas N, Vílchez JJ, Dourado ME, Kadem N, Kutluk G, Umair M, Younus M, Pegorano E, Bello L, Crawford TO, Suárez-Calvet X, Töpf A, Guglieri M, Marini-Bettolo C,...

Editor's Choice

Año publicación:

2022

Número de revista:

Brain vol. 145 n. 2

https://academic.oup.com/brain/article/145/2/596/6369509

Artículo

Clinical and Laboratory Features in Anti-NF155 Autoimmune Nodopathy.

Autor/es:

Martín-Aguilar L, Lleixà C, Pascual-Goñi E, Caballero-Ávila M, Martínez-Martínez L, Díaz-Manera J, Rojas-García R, Cortés-Vicente E, Turon-Sans J, de Luna N, Suárez-Calvet X, Gallardo E, Rajabally Y, Scotton S, Jacobs BC, Baars A, Cortese A, Vegezzi E, Höftberger R, Zimprich F, Roesler C, Nobile-...

Año publicación:

2022

Número de revista:

Neurology Neuroimmunology & Neuroinflammation vol. 9 n. 1

https://nn.neurology.org/content/9/1/e1098

Artículo

Clinical and Metabolic Signature of UNC13A rs12608932 Variant in Amyotrophic Lateral Sclerosis.

Autor/es:

Calvo A, Canosa A, Moglia C, Manera U, Grassano M, Vasta R, Palumbo F, Cugnasco P, Gallone S, Brunetti M, De Marchi F, Arena V, Pagani M, Dalgard C, Scholz SW, Chia R, Corrado L, Dalfonso S, Mazzini L, Traynor BJ, Chio A.

Año publicación:

2022

Número de revista:

Neurology® Genetics. vol. 8 n. 6

https://ng.neurology.org/content/8/6/e200033

Artículo

Clinical and neuroscience evidence supports the critical importance of patient expectations and agency in opioid tapering.

Autor/es:

Darnall BD, Fields HL.

Perspective

Año publicación:

2022

Número de revista:

Pain vol. 163 n. 5

https://journals.lww.com/pain/Fulltext/2022/05000/Clinical_and_neuroscience_evid…

Artículo

Clinical and Structural Findings in Patients With Lesion-Induced Dystonia: Descriptive and Quantitative Analysis of Published Cases.

Autor/es:

Corp DT, Greenwood CJ, Morrison-Ham J, Pullinen J, McDowall GM, Younger EFP, Jinnah HA, Fox MD, Joutsa J.

Año publicación:

2022

Número de revista:

Neurology vol. 99 n. 18

https://n.neurology.org/content/99/18/e1957

Artículo

Clinical Characteristics of 100 Patients With Hypermobility Spectrum Disorders and Shoulder Complaints With or Without Mechanical Symptoms: A Cross-sectional Study.

Autor/es:

Liaghat B, Skou ST, Sondergaard J, Boyle E, Søgaard K, Juul-Kristensen B.

Año publicación:

2022

Número de revista:

Archives of Physical Medicine and Rehabilitation. vol. 103 n. 9

https://www.archives-pmr.org/article/S0003-9993(22)00017-X/fulltext

Artículo

Clinical Characteristics of Seizures and Epilepsy in Individuals With Recurrent Deletions and Duplications in the 16p11.2 Region

Autor/es:

Christelle Moufawad El Achkar, Alyssa Rosen, Sudha Kilaru Kessler, Kyle J. Steinman, Sarah J. Spence, Melissa Ramocki, Elysa Jill Marco, LeeAnne Green Snyder, John E. Spiro, Wendy K. Chung, Poduri Annapurna, Elliott H. Sherr

Año publicación:

2022

Número de revista:

Neurology® Genetics. vol. 8 n. 5

https://ng.neurology.org/content/8/5/e200018

Artículo

Clinical Deep Phenotyping of ABCA7 Mutation Carriers.

Autor/es:

Campbell AS, Ho CCG, Atık M, Allen M, Lincoln S, Malphrus K, Nguyen T, Oatman SR, Corda M, Conway O, Strickland S, Petersen RC, Dickson DW, Graff-Radford NR, Ertekin-Taner N.

Año publicación:

2022

Número de revista:

Neurology® Genetics. vol. 8 n. 2

https://ng.neurology.org/content/8/2/e655

Una iniciativa de:

Buscador

Clinical and genetic spectra of 1550 index patients with hereditary spastic paraplegia.

Clinical and genetic spectrum of 355 Chinese children with epilepsy: a trio-sequencing-based study.

Clinical and genetic spectrum of a large cohort of patients with δ-sarcoglycan muscular dystrophy.

Clinical and Laboratory Features in Anti-NF155 Autoimmune Nodopathy.

Clinical and Metabolic Signature of UNC13A rs12608932 Variant in Amyotrophic Lateral Sclerosis.

Clinical and neuroscience evidence supports the critical importance of patient expectations and agency in opioid tapering.

Clinical and Structural Findings in Patients With Lesion-Induced Dystonia: Descriptive and Quantitative Analysis of Published Cases.

Clinical Characteristics of 100 Patients With Hypermobility Spectrum Disorders and Shoulder Complaints With or Without Mechanical Symptoms: A Cross-sectional Study.

Clinical Characteristics of Seizures and Epilepsy in Individuals With Recurrent Deletions and Duplications in the 16p11.2 Region

Clinical Deep Phenotyping of ABCA7 Mutation Carriers.

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