Results 251 to 260 of about 8,614,620 (399)

INF2‐Related Charcot–Marie–Tooth Disease in a Japanese Cohort: Genetic and Clinical Insights

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Background INF2 mutations cause focal segmental glomerulosclerosis (FSGS) and Charcot–Marie–Tooth disease (CMT). Accurate genetic diagnosis is critical, as INF2‐related FSGS is typically resistant to immunotherapy yet rarely recurs after transplantation, and its associated neuropathy can mimic treatable immune‐mediated disorders such as ...
Chikashi Yano, Masahiro Ando, Yujiro Higuchi, Jun‐Hui Yuan, Akiko Yoshimura, Takahiro Hobara, Risa Nagatomo, Fumikazu Kojima, Yu Hiramatsu, Satoshi Nozuma, Tomonori Nakamura, Yusuke Sakiyama, Chika Matsuoka, Toru Yamashita, Takashi Kimura, Ayako Miyazaki, Chinatsu Kinjo, Kenji Yokochi, Nanami Yamanaka, Nozomu Matsuda, Tomoki Suichi, Yoshiyuki Hanaoka, Haruka Kojima, Kenichi Todo, Hiroyuki Ishiura, Jun Mitsui, Shoji Tsuji, Hiroshi Takashima   +27 more
wiley   +1 more source

Amino Acid Profile Alterations in the Mother-Fetus System in Gestational Diabetes Mellitus and Macrosomia. [PDF]

Int J Mol Sci
Frankevich NA, Tokareva AO, Yuriev SY, Chagovets VV, Kutsenko AA, Novoselova AV, Karapetian TE, Lagutin VV, Frankevich VE, Sukhikh GT.   +9 more
europepmc   +1 more source

THE AMINO ACID COMPOSITION OF KERATINS

, 1939
Richard J. Block, Diana Bolling
openalex   +1 more source

Expanding Hereditary Spastic Paraplegias Limits: Biallelic SPAST Variants in Cerebral Palsy Mimics

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Hereditary spastic paraplegias (HSP) are rare neurodegenerative disorders marked by spasticity and lower limb weakness. The most common type, SPG4, is usually autosomal dominant and caused by SPAST gene variants, typically presenting as pure HSP.
Gregorio A. Nolasco, Mònica Roldán, Yalda Jamshidi, Ioannis Georvasilis, Rocío Jadraque Rodríguez, Reza Boostani, Ali Shoeibi, Lluís Armengol, Anna Codina, Ehsan Ghayoor Karimiani, Cristina Hernando‐Davalillo, Loreto Martorell, María Luisa Ramírez Almaraz, Jordi Muchart, Carlos Ortez, Andrés Nascimento, Roser Urreizti, Daniel Natera‐de Benito, Mercedes Serrano   +18 more
wiley   +1 more source

Amino acid composition of plant protein-enriched wheat biscuits differentially affects postprandial amino acid responses of overweight/obese compared to normalweight subjects. [PDF]

Eur J Nutr
Yanni AE, Kanata MC, Papaioannou V, Halabalaki M, Karathanos VT.   +4 more
europepmc   +1 more source

SPECTROSCOPIC INVESTIGATIONS OF AMINO ACIDS AND AMINO ACID DERIVATIVES

, 1935
Katherine Feraud, Max S. Dunn, Joseph Kaplan   +2 more
openalex   +1 more source

Reprogramming of glucose, fatty acid and amino acid metabolism for cancer progression

Cellular and Molecular Life Sciences, 2015
Zhaoyong Li, Huafeng Zhang
semanticscholar   +1 more source

SNUPN‐Related Muscular Dystrophy: Novel Phenotypic, Pathological and Functional Protein Insights

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective SNUPN‐related muscular dystrophy or LGMDR29 is a new entity that covers from a congenital or childhood onset pure muscular dystrophy to more complex phenotypes combining neurodevelopmental features, cataracts, or spinocerebellar ataxia. So far, 12 different variants have been described.
Nuria Muelas, Pablo Iruzubieta, Alberto Damborenea, Laura Pérez‐Fernández, Inmaculada Azorín, Juan Carlos Jiménez García, Ana Töpf, Pilar Martí, Lorena Fores‐Toribio, María Manterola, Rosana Blanco‐Mañez, Oihane Pikatza‐Menoio, Sonia Alonso‐Martín, Volker Straub, Aitziber L. Cortajarena, Adolfo López de Munain, David De Sancho, Lorea Blázquez, Juan J. Vilchez   +18 more
wiley   +1 more source

Gut microbiota-mediated modulation of host amino acid availability and metabolism. [PDF]

Gut Microbes
Han Z, Zhao L, Hu Q, Hung I, Liu C, Liu S, Mei X, Zeng X, Bin P, Wang J.   +9 more
europepmc   +1 more source

The Amino Acid Composition and Distribution of N¹⁵ in Soybean Root Nodules Supplied N¹⁵-Enriched N₂

, 1952
Israel Zelitch, Paul W. Wilson, R. H. Burris   +2 more
openalex   +2 more sources