Results 221 to 230 of about 23,670,105 (389)

RECORD OF MEETINGS OF THE NEW YORK ACADEMY OF SCIENCES January, 1901, to December, 1901 [PDF]

, 1901
Richard Elwood Dodge
openalex   +1 more source

The Diverse Neuromuscular Spectrum of VPS13A Disease

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective VPS13A disease (chorea‐acanthocytosis) is a rare neurodegenerative disorder caused by biallelic variants in VPS13A, typically presenting with hyperkinetic movement disorders, while neuromuscular signs are often mild. The aim of the project was to investigate the frequency and severity of neuromuscular impairment in VPS13A disease ...
Anne Buchberger, Evamaria Riedel, Marie Hackenberg, Alexander Mensch, Stefanie Beck‐Woedl, Joohyun Park, Tobias B. Haack, Bernhard Haslinger, Jan Kirschke, Holger Prokisch, Andreas Hermann, Christian Mawrin, Adrian Danek, Benedikt Schoser, Kevin Peikert, Marcus Deschauer, Isabell Cordts   +16 more
wiley   +1 more source

Two new species and new records of the genus <i>Procirrus</i> Latreille from China (Coleoptera, Staphylinidae, Paederinae). [PDF]

Zookeys
Huang L, Cao GH, Peng Z.
europepmc   +1 more source

Records of Indian Trypetidae (Diptera) with Descriptions of Some Apparently New Species

, 1934
H. K. Munro
openalex   +2 more sources

Some Recent Public "Rain" Baths in New York City. By Wm. Paul Gerward, C. E. Reprinted fromThe Engineering Record, pp. 25 [PDF]

, 1892
A. M.
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

New Records for the Arkansas Flora III [PDF]

, 1958
Moore, Dwight M.
core   +2 more sources

New records and updated checklist of the seaweeds of the phycologically little-known coast of Fujairah, United Arab Emirates. [PDF]

Sci Rep
John DM, Olsson PO.
europepmc   +1 more source

Maori Symbolism. Being an Account of the Origin, Migration and Culture of the New Zealand Maori as Recorded in Certain Sacred Legends.

, 1927

openalex   +2 more sources

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