Results 201 to 210 of about 157,517 (293)

Hereditary Spastic Paraplegia in Alberta: Lessons from a Well‐Defined Cohort Including the Indigenous Population

Movement Disorders Clinical Practice, EarlyView.
Abstract Background Hereditary spastic paraplegias (HSP) are rare disorders sharing common features of leg spasticity with gait impairment. Simple and complex forms are recognized; over 50% of cases remain unsolved genetically. Little is known about the genetics of HSP among Indigenous Peoples. Objectives To describe clinical, radiological, and genetic
Ekhlas Assaedi, Setareh Ashtiani, Mehrdad A. Estiar, Ziv Gan‐Or, Erica D. McKenzie, Aakash Shetty, Guy Rouleau, Oksana Suchowersky   +7 more
wiley   +1 more source

Plasma p-tau231 in the presenilin 1 E280A autosomal dominant Alzheimer's disease kindred: A cross-sectional and longitudinal cohort study. [PDF]

Alzheimers Dement
Malotaux V, Ashton NJ, Öhrfelt A, Chen Y, Su Y, Garcia-Ospina G, Guzman-Martínez C, Villegas-Lanau A, Gómez-Ramirez J, Giraldo-Chica M, Aguillon D, Tirado V, Baena A, Munoz C, Acosta-Baena N, Pruzin JJ, Ghisays V, Rios-Romenets S, Vila-Castelar C, Martínez JE, Giudicessi A, Tariot PN, Zetterberg H, Blennow K, Reiman EM, Quiroz YT.   +25 more
europepmc   +1 more source

Preserved Thermoregulation in Huntington's Disease: Insights from an Observational Case–Control Study

Movement Disorders Clinical Practice, EarlyView.
ABSTRACT Background Thermoregulation is critical for preventing hyperthermia during physical activity. In Huntington's disease (HD), research on possible thermoregulatory alterations has received little attention. Objectives We aimed to investigate and compare skin temperature differences before and after exercise between HD patients and healthy ...
Lucía Simón‐Vicente, Jéssica Rivadeneyra‐Posadas, María Soto‐Célix, Javier Raya‐González, Alejandro Rodríguez‐Fernández, Daniel Castillo‐Alvira, Fernando Vázquez, Esther Cubo   +7 more
wiley   +1 more source

Variants in CAPN3 Causing Autosomal Dominant Limb-Girdle Muscular Dystrophy Combined With Calpain-3 Deficiency. [PDF]

Hum Mutat
Krag T, Nasho E, Brady L, Verebi C, Leturcq F, Malfatti E, Duno M, Tarnopolsky M, Vissing J.   +8 more
europepmc   +1 more source

ADCY5‐Mosaic Variants: A Diagnosis Not to Be Missed

Movement Disorders Clinical Practice, EarlyView.
Abstract Background An increasing number of ADCY5‐mosaic patients, seemingly with a milder phenotype, are being identified. However, an in‐depth assessment of their clinical characteristics is lacking. Cases We collected and analyzed data from 12 consecutive ADCY5‐mosaic patients diagnosed at our center and 7 cases from the literature; 63% of the ...
Alice Innocenti, Emmanuel Roze, Florence Riant, Marie‐Céline François‐Heude, Bérénice Lecardonnel, Giacomo Garone, Maxime Colmard, Eline Chauvet‐Piat, Anne‐Cécile Chaux, Marie‐Aude Spitz, Beatrice Desnous, Catherine Sarret, Philippe Damier, Thomas Wirth, Mathieu Anheim, Emilie Retailleau, Estelle Conabady, Caroline Dubacq, Oriane Trouillard, Aurélie Méneret, Agathe Roubertie   +20 more
wiley   +1 more source

Proteomic analysis of Down syndrome cerebrospinal fluid compared to late-onset and autosomal dominant Alzheimer´s disease. [PDF]

Nat Commun
Montoliu-Gaya L, Bian S, Dammer EB, Alcolea D, Sauer M, Martá-Ariza M, Ashton NJ, Belbin O, Fuchs J, Watson CM, Ping L, Duong DM, Nilsson J, Barroeta I, Lantero-Rodriguez J, Videla L, Benejam B, Roberts BR, Blennow K, Seyfried NT, Levey AI, Carmona-Iragui M, Gobom J, Lleó A, Wisniewski T, Zetterberg H, Fortea J, Johnson ECB.   +27 more
europepmc   +1 more source

Cognitive Changes in Pre‐ataxic Spinocerebellar Ataxias: A Scoping Review

Movement Disorders Clinical Practice, EarlyView.
Abstract Background Although traditionally recognized for motor impairment, evidence suggests that cognitive deficits may emerge before ataxia onset in autosomal dominant spinocerebellar ataxias (SCA), particularly in nucleotide repeat expansion SCAs (NRE‐SCAs).
Renata Barreto Tenorio, Andressa Aline Vieira, Hélio Afonso Ghizoni Teive, Carlos Henrique Ferreira Camargo   +3 more
wiley   +1 more source

Reliability of radiomic analysis on multiparametric MRI for patients affected by autosomal dominant polycystic kidney disease. [PDF]

Sci Rep
Lussana F, Lanzarone E, Villa G, Mastropietro A, Caroli A, Scalco E.   +5 more
europepmc   +1 more source

Coexistence of APC and KRAS Mutations in Familial Adenomatous Polyposis and Endometrial Cancer: A Mini‐Review With Case‐Based Perspective

Med Research, EarlyView.
ABSTRACT Familial adenomatous polyposis (FAP) is a well‐characterized hereditary colorectal cancer syndrome driven by germline mutations in the APC gene. KRAS mutations, although more common in sporadic colorectal and endometrial cancers, are rarely seen concurrently in patients with FAP.
Tongchuan Yin, Zhenhua Tan, Lanjin Bai, Haibo Lan, Tianliang Liu   +4 more
wiley   +1 more source